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ABSTRACT
Year : 2018  |  Volume : 7  |  Issue : 9  |  Page : 27-42  

Case reports


Date of Web Publication24-Dec-2018

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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/2249-4863.248472

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How to cite this article:
. Case reports. J Family Med Prim Care 2018;7, Suppl S3:27-42

How to cite this URL:
. Case reports. J Family Med Prim Care [serial online] 2018 [cited 2020 Oct 22];7, Suppl S3:27-42. Available from: https://www.jfmpc.com/text.asp?2018/7/9/27/248472




  A case of failure to thrive with right facial palsy in a child having Goldenhar Syndrome Top


Priyanka Prakash Vaigankar1

1Goa Medical College, Bambolim, Goa, India

E-mail: [email protected]

Goldenhar Syndrome also known as oculo-auriculo-vertebral spectrum is a rare complex congenital anomaly involving the fi rst and the second branchial arches characterized by abnormalities of the ear, eyes, and vertebra. The incidence is as low as 1 in 26, 000 live births. There is minor male predominance male:female 3:2. It is a disorder where the patient's facial features are incompletely developed on one side, resulting in eye, ear, and jaw abnormalities. In 85% of patient with Goldenhar Syndrome, only one side of the face is affected. Cervical spine vertebral deformities are part of the collection of symptoms. History: We report a case of Goldenhar Syndrome with rare association of hypoplastic thumb in the Department of Paediatric and Neonatology of Goa Medical College. An 8-month-old female child born out of nonconsanguineous marriages to a 21-year primigravida presented with the chief complaints of inadequate weight gain and swelling in the groin. The child was delivered by cesarean section, the indication for the same was oligohydramnios and intrauterine growth retardation. History of premature rupture of membranes, and child not crying at birth. The child was kept in NNU and handed to mother on the third postnatal day. General Examination: Anthropometry: low weight, head to toe examination: Dysmorphic low set ears with microtia of right ear, high arched palate, asymmetry of the chest, hypoplastic thumb (a rare association with Goldenhar Syndrome documented in literature), Indirect Inguinal Hernia. Systemic Examination:Central nervous system: Right Infranuclear Facial Palsy; Eyes: Esotropia; Ear Nose Throat: Bilaterally narrow external auditory canal; Genitourinary System: Anteriorly placed anal opening very close to vagina. Investigation: Radiogram revealed scoliosis, hemivertebrae, and dextrocardia. Atrial septal defect and 6 mm left to right shunt.


  A rare combination of I-cell disease and pseudo-Hurler Syndrome Top


Varun Venkat Raghavan1

1M.S, Bangalore Medical College, Bengaluru, Karnataka, India

E-mail: [email protected]

History: A 9-month-old girl born to a 2nd degree consanguineously married couple at term by normal vaginal delivery. She presented with a history of developmental delay since 3 months of age. The patient attained social smile at 5 months of age and partial head control at 7 months of age. Roll over phenomenon is not attuned. There was a significant history in the form of two hospital admissions one at 3 months of age and other now for the complaints of noisy breathing. No startle response was present. Examination: The weight, length, and head circumference were all less than three standard deviations. There were coarse facies noted in the form of thick eye brows and hypertelorism, bilateral corneal clouding, low-set ears, broad nose with depressed nasal bridge, high arched palate, pectus excavatum, and kyphosis. Nervous system examination revealed hypertonia in all four limbs with brisk deep tendon reflexes. Per abdominal examination revealed nontendon hepatomegaly palpable 2 cm below right costal margin, firm in consistency, and splenomegaly of 2 cm palpable below left costal margin also firm in consistency. Fundus examination revealed bilateral optic atrophy. Investigations and Management: On investigations, complete blood count, liver function test, and renal functions were normal. Thyroid function test, serum lactate, tandem mass spectrometry, urine spot for mucopolysaccharidosis was normal. Magnetic resonance imaging brain showed bilateral frontotemporal atrophy. Enzyme activity in plasma was performed which showed high levels of alpha-mannosidase, alpha-fucosidase, and beta-hexosaminidase T suggesting a diagnosis of both mucolipidosis 2 and type 3. Genetic analysis report is awaited. Patient is managed conservatively. Genetic counseling was given. Prenatal testing for the next pregnancy was advised.


  Abdominal epilepsy Top


Sreehita K Bhaskar1

1Medical College, Hyderabad, Telangana, India

E-mail: [email protected]

A 12-year-old male child presented with chronic abdominal pain for last 4 months and difficulty in breathing for last 10 days. Abdominal pain was diffuse, more on epigastric, right hypochondrium, left iliac fossa, and around umbilicus, which was more in morning and burning in nature lasting for few minutes associated with anorexia and difficulty in breathing, relieved on lying down on bed. H/O loss of weight. Diffi culty in breathing was not associated with respiratory symptoms. On examination, pallor was present, tenderness in epigastric, right hypochondrium, left iliac fossa, and around umbilicus. No organomegaly, no free fluid in the abdomen, and no palpable masses. Other systems were normal. On investigations, hemoglobin% - 8.8 g/dl, erythrocyte sedimentation rate-normal, normal level of serum electrolytes, blood urea, liver enzymes. Complete urine examination-normal, stool examination-no cysts and ova. Ultrasound of abdomen– normal, chest X-ray – normal electroencephalogram showed generalized epileptic discharges. Treatment - patient responded to phenytoin.


  Acute lymphoblastic leukemia in old age Top


Gaddam Vinuthna1

1Osmania Medical College, Hyderabad, Telangana, India

E-mail: [email protected]

Case Summary: A 73-year-old male patient came with history of loss of appetite, generalized weakness, cough, insomnia, and body pains (left loin majorly) since March 20, 2015. Patient had no bleeding diasthesis, hemoptysis, vomiting, and shortness of breath. Patient was diabetic, hypertensive, underwent cardiac bypass surgery, and extracorporeal shock wave lithotripsy. Patient was chronic alcoholic has disturbed sleep due to body pains. On examination, he had pallor, gross swelling, and tenderness in the left loin region. All other systems were normal on examination. On investigation, bleeding time, clotting time were normal, serum creatinine level is increased, blood sodium and glomerular filtration rate are decreased. Urine culture ruled out any infections of kidney. On computed tomography scan abdomen, left kidney is grossly enlarged with multiple calculi, right kidney has poorly enhancing lesion. Renal biopsy showed poorly differentiated cells with malignant features. Fluorodeoxyglucose (FDG)-positron emission tomography scan of whole body revealed FDG uptake in spine of right scapula, paravertebral soft tissue in dorsal spine, left retroperitoneum, para aortic regions in addition to both kidneys. Immunohistochemistry (IHC) revealed malignant cells to be CD20+, CD10+, TdT+, and Ki67 in 80% cells. Complete blood count and peripheral smear were normal in the beginning but a month later, white blood cell started increasing and blasts started appearing. Acute myeloid leukemia (AML), idiopathic thrombocytopenia purpura, rhabdomyosarcoma, Merkel cell tumor, aplastic anemia, red cell count, small cell lung cancer, leukemoid reaction are differential diagnosis which are ruled out by IHC, peripheral smear. BCR-ABL, TEL-AML1, E2A-PBX1, and MLL-AF4 transcripts were not found in all translocations test. Patient was on BFM-90 protocol for B-ALL, but he could not tolerate effects of induction phase of chemotherapy, expired on June 5, 2015. Discussion: Presenting signs and symptoms of acute lymphocytic leukemia (ALL) resemble common health issues, particularly in old age. Diagnosing disease may take a lot of time which in turn worsens the condition and most of the times patient is lost before diagnosis is made. As proportion of older age group is increasing, prospective trials for older people with ALL are needed for better treatment options.


  An interesting rare case of ataxia Top


Sri Harsha Kandikonda1, Nareshbabu Kamani1

1Osmania Medical College, Hyderabad, Telangana, India

E-mail: [email protected]

Introduction: A 15-year-old female came with chief complaints of swaying while walking, slippage of chappals, and slurring of speech. She was apparently asymptomatic 5 years back. Initially, she noticed swaying on either side while going to school. Took support of wall while using wash basin. H/O of shortness of breath on exertion 7 years back for which she was evaluated and diagnosed to have HOCM for which she is taking propranolol. On GE patient, conscious and coherent oriented to time, place, and person, sitting comfortably on the bed. Vitals are normal. On central nervous system examination: MOTOR: Wasting of EDB, thenar, hypothenar muscles seen on both sides; hypotonia in both limbs, power is normal; no involuntary reflexes found; deep reflexes are lost; dysdiadokinesia seen, finger, nose, heel, knee tests negative by both open and close eyes; no neurocutaneous markers. Cerebellar Findings: Truncal ataxia present. Finger nose test not able to do on both sides. Heel knee test not able to do on both sides. Dysdiadokinesia is present. No nystagmus. Dysmetria present. Lurching type of gait is seen. Head titubation present. Sensory Findings: Pain and temperature are normal. Vibration is lost on toe, decreased on fingers. Romberg test is positive Cranial Nerves Examination: cranial nerve examination is normal. History of the patient is diagnosed to have HOCM for which she is taking propranolol. Differential diagnosis friedreich ataxia; isolated Vitamin E deficiency; abeta lipoproteinaemia; hypothyroidism; Vitamin b12 deficiency. Investigations: Complete blood picture, lipid profile, thyroid profile, Vitamin E levels, complete urine examination all found to be normal; magnetic resonance imaging (MRI) brain is normal. MRI spine-thinning of spinal cord in lower cervical and dorsal region with prominent posterior subarachnoid space - spinal cord atrophy. Final diagnosis: Friedrich ataxia by eliminating reversible causes which are normal. Rare recessively inherited neurodegenerative disease with genetic defect in FXN gene it is most common form of inherited ataxia (but rare).


  Bartter syndrome Top


Samanpally Harideep1, Nikhil Reddy1

1Osmania Medical College, Hyderabad, Telangana, India

E-mail: [email protected]

Introduction: Bartter syndrome is a rare disease which presents in childhood which is characterized by hypokalemia, metabolic alkalosis, hyperaldosteronism, and normal blood pressure (BP). We report a case of 35-year-old female who presented with weakness of both lower limbs and unable to hold neck erect. Investigations were suggestive of Bartter syndrome. We report this case because adult variant Bartter is rare. Case: A 35-year-old female presented with a history of weakness of both lower limbs of 1 day duration followed by weakness of neck. After few hours, she developed spasms of the hand. On Examination: BP-110/80 mmHg, neurological examination: power of muscles of both upper limbs and lower limbs 3/5; reflexes: Knee and ankle reflexes are absent in both the limbs; sensory system: Normal; cranial nerves: Normal. Investigations: - Serum potassium: 2.0 meq/l, serum creatinine: 0.9 mg/dl, serum sodium: 139 meq/l, serum urea: 20 mg/dl. Initial investigation showed hypokalemia. We started evaluating the patient for cause of hypokalemia. Serum magnesium: 1.75 mg/ dl, serum calcium: 7.5 mg/dl, and hematological profi le: normal. Arterial blood gas: showed metabolic alkalosis with pH of 7.549, PCO2: 40.1 mmHg, PO2: 89.4 mmHg. Urinary potassium: 40 mmol/l, urinary creatinine: 54 mg/dl, urinary sodium: 95 mmol. D/D: Diuretic abuse (loop, thiazide diuretics), Gitelman syndrome, cyclical vomiting, and Cushing syndrome. Treatment:Intravenous injection calcium gluconate and maintenance dose of calcium is given despite the spasms of hand continued and then MgSO4 is given then spasms subsided.


  Serous cystadenoma Top


Sangeetha Sankiti1

1MNR Medical College, Sangareddy, Telangana, India E-mail: [email protected]

Introduction: A case of 35-year-old women presenting to the gynecological department with progressively increasing mass per abdomen since 8 months and pain abdomen since 3 months. No history of menstrual irregularities, weight loss, loss of appetite, and urinary complaints. Physical examination suggestive of mass per abdomen corresponding to 36 weeks, arising from pelvis and extending up to xiphisternum, cystic in consistency, restricted mobility, and lower pole of mass is felt. On bimanual examination, uterus felt separately from the mass and movements on cervix are not transmitted to the mass. Investigations:  Pap smear More Details s/o infl ammatory smear. CA 125-15 IU/ml. Ultrasound s/o 28 cm × 20 cm × 10 cm sized well-defined anechoic cystic lesion in right adnexa and right ovary is not seen separately from the lesion. Cyst shows thick wall with internal septations and echoes. Left ovary and uterus are normal. No free fluid in the pelvis. On color flow, the cyst shows vascularity in the walls. On Doppler study mixed arterial and venous flow is seen, arterial study shows low resistance wave form. Treatment: exploratory laparotomy was done. At laparotomy giant cystic mass arising from right ovary was encountered. Left side adnexa was healthy. Total abdominal hysterectomy and right salpingo-oophorectomy was done. Pathology report is benign serous cystadenoma. Conclusion:Serous cystadenomas are common cystic ovarian neoplasms accounting for 50% of all ovarian tumors. 60–70% are benign and 15% borderline and 20–25% are malignant. They are common in third, fourth, and fifth decades of life.


  Brain ischemia due to arm exercise: A case of vascular steal phenomenon Top


Siddharth Srinivasan1

1Rajah Muthiah Medical College, Annamalai University, Chidambaram, Tamil Nadu, India

E-mail: [email protected]

Introduction: A 47-year-old female homemaker residing at Madurai visited the OP with the complaints of repeated episodes of dizziness for past 5 years. Clinical details: Dizzy spells lasting only for a few seconds, occasionally prolonged to around 2 min without vertigo. However, brief spells of diplopia or imbalance were experienced. There was no loss of consciousness or jerks. However, the patient recalled such symptoms soon after manual exertion of the left arm (using the grinder/washing clothes). ±Left arm pain. Examination: Vitals: pulse rate – 76/min; left upper limb blood pressure (BP): 100/80 mmHg. Right upper limb BP: 132/90 mmHg. Equal on both lower limbs BP: 160/100 mmHg. Left supraclavicular bruit was heard not conducted up the carotids. No palpable or pulsatile mass. Fingertips were normal, no ischemic signs, or discoloration. Investigations: blood routine, erythrocyte sedimentation rate, and C-reactive protein normal. Doppler: reversal of blood flow in the vertebral artery and no detectable blood flow in the origin of the left subclavian artery. Color Doppler: Reversed left vertebral fl ow on phase contrast – i.e., craniocaudal. The left subclavian artery origin showed total occlusion with collaterals forming the distal subclavian/supplying the left upper limb. Discussion: Vertebrobasilar ischemia caused by - Atheroma, thoracic outlet syndrome, and autoimmune Takayasu's arteritis. Associated physical signs such as asymmetrical BP and pulse, point to the diagnosis of a subclavian steal syndrome. Treatment: The patient was rendered asymptomatic by opening the subclavian artery with a stent. Prognosis: Complete recovery with no residual symptoms. Conclusion:It must be kept in mind that most of the cases are asymptomatic, but early diagnosis can serve as a marker for atheroma. The upper limb ischemic symptoms in spite of vascular stenosis may be absent in many people due to extensive collaterals as compared to lower limb ischemic symptoms.


  Brugada Syndrome Top


Madhulika Kakarla1, Anjani Durga1

1Kamineni Institute of Medical Sciences, Narketpally, Telangana, India

E-mail: [email protected], [email protected]

Introduction: Brugada syndrome is a clinical entity characterized by a specific electrocardiographic pattern with ST-segment elevation in right precordial leads (v1-v3), susceptibility to ventricular tachyarrhythmia and increased the risk of sudden cardiac death, with an apparent absence of structural abnormalities or ischemic heart disease. Case Summary: A 29-year-old male patient came with the history of abdominal pain, high-grade fever, vomiting, and diarrhea for 2 days. The patient had no chest pain/discomfort/heaviness/palpitation syncope. On examination, there is a mild tenderness in epigastric region. Patient was febrile. Cardiac examination revealed normal heart sounds but no gallop. Ultrasonography abdomen was normal, electrocardiogram findings revealed incomplete right bundle branch block and ST elevation >2 mm in V1, V2. Clinically, biochemically, and echocardiography excluded the possibility of acute coronary syndrome, myocarditis, and pericarditis. Gastroesophageal reflux disease, pancreatitis, gastroenteritis, alcoholic gastritis, inferior wall myocardial infarction, unstable angina, and pericarditis are the differential diagnoses. He was treated with cephalosporins and patient is referred to the higher cardiac center for drug challenge and electrophysiological testing. Patient was followed up advised for ICD and was given a list of drugs to be avoided in future. Genetic counseling had been done and explained about the prognosis of disease. Discussion: Both sporadic and familial cases have been reported, and pedigree analysis suggests an autosomal dominant pattern of inheritance. In approximately, 20% of cases BrS is caused by mutations in the SCN5A gene on chromosome 3p21-23, encoding the cardiac sodium channel, a protein involved in the control of myocardial excitability. Since the use of ICD is the only therapeutic option of proven efficacy for primary and secondary prophylaxis of cardiac arrest, the identifi cation of high-risk subjects is one of the major goals in the clinical decision-making process.


  Carcinoma of cecum Top


J. Snehal Reddy1

1MNR Medical College, Sangareddy, Telangana, India E-mail: [email protected]

A 20-year-old young male presented with a history of pain right lower abdomen for 3 months. Pain was intermittent, colicky in nature. There was a history of nausea and occasional episodes of vomiting. On detailed history, he had undergone open appendectomy 3 months back, but the symptoms persisted. Patient was evaluated with routine blood investigations, ultrasound and computed tomography scan abdomen which showed fluid-filled bowel loops with distended cecum. Exploratory laparotomy showed a tumor-like fi rm growth involving cecum with distended terminal ileum. Right radical hemicolectomy with end to end ileotransverse anastomosis done.


  Congenital facial tumor: A rare case and a rare site of infantile fibromatosis Top


Shadan Taskeen1, Yusra Fatima1

1Deccan College of Medical Sciences, Hyderabad, Telangana, India

E-mail: [email protected], [email protected]

Introduction: Soft tissue tumors at birth are often hemangiomas. True tumors are extremely rare. Rhabdomyosarcoma and infantile fibromatosis are rare tumors that present at birth. Face is the rarest site. Case Details: A female baby delivered by lower segment cesarean section at term was investigated for a swelling on the face at 4 months of age. The swelling was 1 cm below the right inner canthus of the eye. It was a solitary, painless swelling, 1.5 cm × 1 cm × 2 cm in size, firm to hard in consistency with cutaneous telangiectasia. There was no regional lymph node enlargement. Magnetic resonance imaging revealed T1 isointense and hyperintense lesion not involving the bone. Differential diagnosis of the tumor includes hemangioma, infantile fibrosarcoma, rhabdomyosarcoma, and infantile fibromatosis. Total excision with nasolabial advancement fl ap was performed. Histopathology confi rmed infantile fi bromatosis. Immunohistochemistry confi rmed fibroblastic and vascular components (positive for smooth muscle actin SMA and CD34 stain). The 2 months follow-up was uneventful. Prognosis is usually good after complete excision. Recurrence is late and less frequent. Tumor dissemination in head and neck is never reported. Conclusion:Thus, a rare case of congenital infantile fibromatosis of the face was successfully treated with local excision.


  Crouzon Syndrome Top


Amtul Mubeen Humera1

1Osmania Medical College, Hyderabad, Telangana, India

E-mail: [email protected]

Introduction: Crouzon syndrome is a genetic disorder with features of craniosynostosis, abnormal development of the eye sockets, and midface. These conditions occur when there is an abnormal fusion between some of the bones of the skull and of the face that does not allow the bones to grow normally, affecting the shape of the head, the appearance of the face and the relationship of the teeth. The cause of the Crouzon syndrome is a genetic change or mutation in one of the fi broblast growth factor receptor genes. Case:A 45-day-old female baby was brought to the Government ENT hospital with the features of craniosynostosis, abnormal head show, wide set prominent eyes, small beak-like nose, and small midface. The child developed hydrocephalus and was awaiting a neurosurgery and hence was referred to the Government ENT hospital for the confi rmation of patency of posterior choanae aqueductal stenosis, B/L narrowing but patent posterior choanae, dimorphic brain as observed small patent ductus arteriosus with left to right shunts was observed. Diagnosis: the baby was diagnosed with crouzon syndrome. Investigations: Computed tomography brain, infantogram, two-dimensional echocardiogram, ultrasonography abdomen. Treatment: Intravenous (IV) antibiotics, IV fluids, goodles oral airway, and supportive treatment.


  CVA-multiple cortical infarcts with protein C, protein S deficency? Takayasus arteritis Top


Zahra Rashid1, Shagufta Tarannum1

1Osmania Medical College, Hyderabad, Telangana, India

E-mail: [email protected]

Introduction: The patient is a 28-year-old female from Golkonda, Hyderabad. History: Patient presented with diffi culty in using both lower limbs and right upper limb since 14 days. H/O tingling sensation in left lower limb up to knee 14 days ago when she went to ayuvedic doctor. 2 days later, tingling progressed to left thigh with difficulty in moving left lower limb when she started using pathanjali. After 2 days, H/O tingling and difficulty of moving right upper limb over 1 day. 2 days later she had difficulty in getting up from bed followed by urgency of micturition and right lower limb tingling and weakness. History - transient ischemic attack. Hypothyroid, on medication. Irregular menstrual cycles, oligomenorrhea married - 4 years, no children. Examination: Patient conscious, coherent; afebrile; pulse absent in both upper limbs, Dorsalis pedis present, blood pressure - 140/80 mmHg in lower limb central nervous system - hypertonic right upper limb, left lower limb. Flexor spasms present. Power -0/5 both LL, 3/5 right UL, 5/5 left UL. Both limbs Babinski positive investigations: Complete blood picture - neutrophilic leukocytosis with shift to left up to myelocyte INR – 1 (20/7/15); 6 (31/7/15) magnetic resonance imaging (MRI) cervical spine - straightening of cervical spine, disc dessicative changes noted at C2-C3, C5-C6 MRI, magnetic resonance angiogram brain-early subacute infarcts in left frontoparietal, right high parietal, and bilateral centrum semiovale. Probably,  Wallerian degeneration More Details of bilateral corticospinal tracts. Right internal carotid artery thrombosis. Antinuclear antibody-negative. Protein S antigen, Protein C antigen abnormal Antithrombin III Assay - 32.7 mg/dL Treatment: Monocef, dexamethasone, optineuron, ecosprin, atorvas, low molecular weight heparin, acitrom, pantop, physiotherapy, Foley's catheterization. Diagnosis: CVA-Multiple Cortical Infarcts with Protein C, Protein S defi ciency prognosis: Physiotherapy would improve limb strength follow-up: Computed tomography peripheral angiogram advised to rule out Takayasus Arteritis.


  Dyke Davidoff Masson syndrome Top


Vivekan Reddy Chada1

1Osmania Medical College, Hyderabad, Telangana, India

E-mail: [email protected]

Introduction: My case is a patient suffering from Dyke Davidoff Masson syndrome, a rare cause of seizures and mental retardation. It is a rare condition characterized clinically by variable degrees of facial asymmetry, seizures, contralateral hemiparesis, mental retardation, and learning disabilities with cerebral hemiatrophy. Causes: It may be congenital or acquired. Congenital-vascular occlusions, malformations during in-utero or neonatal period. Acquired-infections, trauma, ischemia, hemorrhage. Clinical Findings: Depends on the extent of brain injury. Atrophy of one-half of body, sensory loss, speech and language disorder, mental retardation, and psychiatric manifestations such as schizophrenia may also be present. Frequency: May present in both sexes but more frequent in males and higher involvement of left hemisphere differential diagnosis: Rasmussen encephalitis, neurofibromatosis, postictal cerebral hemiatrophy, TORCH syndrome, Sturge– Weber syndrome More Details, Crossed Cerebral Diaschisis, and linear nevus syndrome. Radiology: Thickening of skull vault, enlargement of frontal sinus. Treatment: Symptomatic and includes management of convulsions, hemiplegia, and learning difficulties.


  Epidermolysis Bullosa Acquisita: A rare dermatological disease Top


Bhavya Gundepudi1

1Kamineni Institute of Medical Sciences, Narketpally, Telangana, India

E-mail: [email protected]

A 21-year-old female patient presented with complaints of tense fluid filled lesions on and off since 3 years. There was a history of trauma provoking the onset of lesions and lesions always healed with scarring. There was no family history. Differential diagnosis included dermatitis herpetiformis, bullous pemphigoid, porphyria cutanea tarda, and Epidermolysis bullosa acquisita (EBA). She was diagnosed as EBA based on clinical examination, histopathology, and immunofluorescence study. Patient was treated with oral prednisolone and dapsone, patient responded well and was in remission until to date. EBA is a chronic mucocutaneous autoimmune blistering disease characterized by skin fragility, blistering at sites of trauma resulting in scarring and formation of milia. We representing this as a rare and interesting case.


  Congenital syndrome associated with bone marrow failure: Fanconi anemia Top


K. Liyu Hullan1, Kommuru Sravani1

1Rajiv Gandhi Institute of Medical Sciences, Srikakulam, Andhra Pradesh, India

E-mail: [email protected]

Introduction: A female child of age 7 years born to consanguineous parents (2nd degree) who is third in the birth order presented with pallor, shortness of breathing, nose and gum bleeds. History of easy fatigability and growth retardation is present. Similar history in the past and the age of presentation is 5 years, received packed cell transfusions and platelets transfusion in the previous admissions. Examination: Gross pallor, hyper pigmented patches, smooth tongue, hypoplastic thumb, leukonychia, Cafe-au-lait spots, petechiae, and ecchymosis are observed. The child was short stature, and microcephaly is present. Tachycardia, hyperdynamic apex beat, pericardial pulsations, and systolic murmur present. No hepatosplenomegaly on examination. Differential Diagnosis: Aplastic anemia, megaloblastic anemia, and acute myeloid leukemia. Investigations:Hemoglobin% - 3 g%, complete blood count-macrocytosis and pancytopenia, bone marrow examination-hypocellularity with all precursor cells decreased, ultrasound abdomen - no organomegaly. Treatment: O2 inhalation, folic acid tablets, ceftriaxone injections, and paracetamol tablets. Packed cell transfusions and platelets transfusions are given. Prognosis: BAD prognosis. Severity and extent of cytopenia determine further prognosis. This is a rare autosomal recessive disorder with a high risk of developing acute myeloid leukemia. Follow-up: Blood counts recommended at least for every 3 months. Transfusion of packed cells and platelets. Siblings should be screened for occult Fanconi anemia.


  Griscelli Syndrome with hemophagocytic lymphohistiocytosis Top


Abhiram Rallabandi1, Shiva Soma1

1Osmania Medical College, Hyderabad, Telangana, India

E-mail: [email protected]

Incidence: Griscelli syndrome is a very rare disorder, as of 2003 only 60 cases have been reported worldwide. A report from India noted 7 patients of hemophagocytic lymphohistiocytosis (HLH) which only one had Griscelli syndrome. Definition:Griscelli syndrome is an inherited autosomal recessive condition characterized by unusually hypopigmented skin and hair starting in infancy, three types have been identified of which Griscelli type 2 presents as HLH in which immune system produces excessive activated lymphocytes and macrophages. Case Report:Here, we describe a case of a 7-year-old female child name Prathyusha, presented with fever since 40 days associated with chills and rigor. No history of cough, pain in the abdomen, joint pain, burning micturition, tb contact, diarrhea, and vomiting. Perinatal History: Birth weight 2.5 kg, cried immediately after birth. Developmental History: Appropriate. Family History: Product of 2nd-degree consanguineous marriage (P4 A0 L2 D2), history of similar hypopigmentation of hair in elder sibling. General Examination: She was febrile, tachycardic, tachypnea, severely anemic. Systemic Examination: She has silver colored hair, hepatosplenomegaly. Investigations: Blood smear showed pancytopenia; bone marrow biopsy revealed erythroid hyperplasia; iron status showed abnormally high serum ferritin levels; lipid profile showed high triglyceride levels; ultrasonography abdomen revealed mild ascites with splenomegaly. Differential Diagnosis: Chediak-Higashi syndrome, Familial HLH, X-linked lymphoproliferative syndrome. Treatment: She was put on antibiotics for secondarily acquired infections, bone marrow transplantation seems to be partially curative along with chemotherapy. Prognosis: Without bone marrow transplantation, it results in death, mean age being 5 years. Some patients die after transplantation, and some have had lasting remissions. Follow-up: It was done with blood transfusion along with chemotherapy though the patient was discharged uneventfully.


  Henoch-Schönlein Purpura Top


Bura Ratna Madhuri1, Koppishetty Laxmi Nagaraju1

1Konaseema Institute of Medical Sciences, Amalapuram, Andhra Pradesh, India

E-mail: [email protected]

A 9-year-old male child who is a resident of Konkapally, Amalapuram came to our hospital with palpable erythematous rash over lower extremities associated with myalgia. Informant was reliable. She gave a history of severe abdominal pain and vomiting 2–3 weeks before onset of rash. Abdominal pain is of colicky type at is localized to periumbilical region with no radiation. This was reduced with postural change. No aggravating factor. Vomiting is bilious and nonprojectile associated with nausea for which he was admitted to casualty and discharged subsequently. 2–3 weeks following abdominal pain, the patient presented with purpuric rash. He visited a dermatologist. The rash subsided on medication. The rash was waxing and waning and did not subsidize even after continuing the treatment from the dermatologist. Then, the patient was brought to Konaseema Institute of Medical Sciences, Amalapuram. On clinical examination, the rash is present on the lower limb, extending up to thigh. Rash is maculopapular type which is nonblanchable without any discharge and sparing the chest, back, and face. Differential Diagnosis: Viral exanthematous infections, idiopathic thrombocytopenic purpura, infl ammatory bowel disease, disseminated intravascular coagulation, acute glomerulonephritis, bacterial endocarditis. Mengitis and meningococcal infections. The patient underwent following investigations: Hematological, urine analysis, liver function tests, serum electrolytes, ultrasonography, chest X-ray. The reports were found to be normal with no signifi cant findings. The patient was treated symptomatically. The patient shows good prognosis.


  Congenital pyloric atresia with Epidermolysis bullosa junctional (Herlitz syndrome) Top


Vojjala Nikhil1

1Osmania Medical College, Hyderabad, Telangana, India

E-mail: [email protected]

A 2-day-old female baby, a product of 35 weeks gestation delivered via lower segment cesarean section due to transverse lie to a 25 years old primi who had gestational diabetes and polyhydramnios referred to the pediatrics department 2nd day after delivery. Presenting complaints - low birth weight, i.e., 2.1 kg, and copious nonbile stained vomiting. There was evidence of papular bullous skin lesions on soles and palms developed on the evening of the previous day. Clinical findings - mild upper abdominal distension was observed and bullous lesions on soles and palms. Investigations - simple abdominal X-ray showed dilated stomach with no gas bubble distally. Skin biopsy at lesions revealed abnormal lamina Lucida. Gastrografin meal and enterography technique confirmed as congenital pyloric atresia. Genetic markers and chromosome analysis revealed to be junctional epidermolysis bullosa. Treatment: Heineke mikulicz pyloroplasty with high level antibiotics to prevent sepsis. For epidermolysis bullosa somatic cell line gene therapy was done. She responded well to surgical pyloroplasty. Differential Diagnosis: Ectopic pancreatic tissue. Duodenal atresia. Annular pancreas hyperstenosis pylorus.


  Holt Oram Syndrome Top


Venkannagari Vikas Reddy1, Kaluvala Harsha Theja2

1Osmania Medical College, Vikas, Hyderabad, Telangana, India E-mail: [email protected]

2Kakatiya Medical College, Warangal, Telangana, India E-mail: [email protected]

Introduction: Holt–Oram syndrome is a rare hereditary syndrome that is transmitted in families continuously, sometimes running for generations. It is an autosomal dominant disorder affecting bones in the arms and hands. They also have cardiac problems from birth. Case: An infant was admitted in the Mahathma Gandhi Memorial Hospital, Warangal immediately after birth. The child had left limb hypoplasia, absent left thumb, and asymmetry of anterior part of neck shallow on the left side. X-ray of limbs showed absent radius and absence of left thumb. In two-dimensional echocardiogram, moderate ostium secundum type of atrial septal defect (l→r) >2:1, SA-ventral septal defect (l→r) >2:1, dilated right atrium and right ventricle, and good ventricular function. Provisional Diagnosis is Acyanotic Heart Disease. Thyroid Profile: Free T3 - 1.24 pg/ml, free T4 - 0.61 ng/dl, thyroid-stimulating hormone - 0.59 micro IU/ml. Inference: Hypothyroidism. All blood parameters were normal. Systemic Examination: Systolic murmur and musculoskeletal deformity were present. Baby developed seizures on the 6th day of admission - up rolling of eyes was present, hyperthermic. It developed apnea that improved with tactile stimulus. Depended on oxygen inhalation, even when there is no respiratory distress. Genetics: No similar family history. The mutation most likely occurred in the baby. Treatment: Closure of atrial septal defect, and management of cardiac arrhythmias.


  Hungry Bone Syndrome Top


A. Swathi1, Dadala Durga Bhavani1

1NRI Medical College and General Hospital, Guntur, Andhra Pradesh, India

E-mail: [email protected]

Introduction: Parathyroid adenomas are benign tumors of the parathyroid glands and are the most common cause of primary hyperparathyroidism. Patients present with elevated serum calcium levels and elevated serum parathyroid hormone (PTH) levels. Hungry bone syndrome (HBS) refers to the rapid, profound, and prolonged hypocalcemia associated with hypophosphatemia and hypomagnesemia, and is exacerbated by suppressed PTH levels, which follows Parathyroidectomy in patients with severe primary hyperparathyroidism and preoperative high bone turnover. It is a relatively uncommon, but serious adverse effect of parathyroidectomy…. The syndrome is reported in 25–90% of patients with radiological evidence of hyper parathyroid bone disease versus only 0–6% of patients without skeletal involvement. Case History: A 22-year-old female presented with swelling in front of left side of neck for the past 2 months. Also, associated with generalized weakness. Swelling is insidious in onset and gradually progressive. No H/O pain/pressure symptoms, no H/O hypo/hyperthyroidism. Examination: On general examination, syndactyly of left 2, 3, and 4 fi ngers. On examination of swelling - a well-defined mobile nodule of size 3 cm × 2 cm, with smooth surface and firm inconsistency is found. Investigations: Ultrasonography neck – 1.6 cm × 1.4 cm hypoechoic nodule in left lobe of thyroid, serum Ca – 12.7 mg/ dl, and PTH – 77.9 pg/ml. MIBI scan– intrathyroid parathyroid adenoma. Treatment: Surgery done, adenoma excised, and sent for histopathological examination (HPE). HPE showed parathyroid adenoma. Postoperative Period: Patient developed HBS. Finally, managed conservatively and discharged.


  An Interesting Case of Hypoxia (HB-Q Variant) Top


Pranusha Sayannagari1, Chandana Muddana1

1Osmania Medical College, Hyderabad, Telangana, India

E-mail: [email protected]

Introduction: A 45-year-old male accountant by occupation from Rangareddy District came with chief complaints of fever since 1 week, burning micturition since 1 week, and generalized weakness since 2 days. History: Patient was apparently asymptomatic 1 week back. Fever since 1 week which is high grade associated with chills and rigors, intermittent in nature. Burning micturition since 1 week. H/O vomiting since 1 week H/O shortness of breath (SOB) on moderate to severe exertion since 1 week. No addictions. Past History: H/O SOB since 2 years. H/O edema of both lower limbs up to knee since 2 years. Examination: He was conscious coherent obeying commands on mechanical ventilator. Pallor present, no icterus; cyanosis present no clubbing, no lymphadenopathy. Ankle edema present nonpitting type no thyromegaly, skin is dry coarse in nature. Vitals are normal Systemic Examination: CVS - normal, RS – normal, gastrointestinal – normal, and central nervous system - normal. Urine was green in color and output was adequate. Investigations:Complete blood picture - (hemoglobin [Hb] 8.8 g% complete urine examination - Escherichia More Details coli is isolated. Chest X-ray and lipid profile were normal, thyroid profi le -thyroid stimulating hormone-66.63 micro IU/ml (0.34–4.25), ultrasonography (USG) abdomen – normal, USG neck-features s/o hashimoto's thyroiditis methemoglobin levels - 3.5 (<1%) Doppler study - grade 3 diastolic dysfunction Hb electrophoresis-(HBQ-11.1%) two-dimensional echocardiogram-mitral valve prolapse. Differential Diagnosis:Methemoglobinemia, sulfhemoglobin, hemoglobinopathies Diagnosis: HBQ India variant (heterozygous), hashimoto's thyroiditis, thyroid cardiomyopathy.


  Ichthyosiform erythroderma Top


Siddhartha Basuroy1

1Goa Medical College, Goa, India

E-mail: [email protected]

A 7-year-old girl was brought to the OPD initially with c/c of scaly patches on the shins, fine white scales on the forearms and upper arms, and rough palms. Her family history revealed a 3rddegree consanguinity. She was admitted, treated, and discharged. However, a few months later, she came back with similar lesions accompanied with redness of the skin. She also presented with complaints of difficulty in closure of the eyes. On examination, she was found to have entropion and marginal conjunctival keratinization. She showed signs and symptoms of erythroderma. There were scaly lesions in the scalp and in various other parts of the body. Examination revealed generalized involvement of entire body including scalp, palms, and soles in the form of erythema, ichthyosis, and tightness of skin. Scaling was whitish all over the body. Thick, loosely adherent scales over the scalp Eyes - Eversion and ectropion of B/L lower eyelids, Ears - Scaling in external auditory canal no other systemic complications. The case had a classical picture of ichthyosiform erythroderma, and showed resemblance to congenital ichthyosiform erythroderma and lamellar ichthyosis. Routine investigations such as CH, liver function test, renal function test, serum electrolytes, BSL, serum Vitamin D3, and serum calcium levels were done. Decreased serum calcium and serum Vitamin D3 levels. The patient was managed with emollients, retinoids, antibiotics, avil, Lacrigel, and olesoft cream. The patient showed improvement with decrease in scaling and redness. The patient was advised protein and calcium rich diet. The patient was discharged by the 14th day of admission.


  Infantile tremor syndrome Top


Srujana Nandala1, K. Utham Simon1

1MNR Medical College, Sangareddy, Telangana, India E-mail: [email protected]

Introduction: Infantile tremor syndrome is a self-limiting disorder in infants and young children characterized by the acute or gradual onset of mental and psychomotor changes, pigmentary disturbances of hair and skin, pallor, and tremors. It may be confused with metabolic disorders seen in infancy and childhood, such as hypoglycemia, hypomagnesaemia or heredofamilial degenerative diseases hyperthyroidism megaloblastic anemia. A complete history and investigations to exclude metabolic disorders are essential. Case report: A 9-month-old male baby of weight 6 kg was brought by his mother with complaints of fast jittery movements of upper and lower limbs with tremulous cry. Baby was a known case of protein energy malnutrition with developmental delay. Institutional delivery cried immediately after birth weight: 2.75 kg physical examination showed hyper pigmentation of dorsum of hand and intergluteal region baby was able to roll over and sitting with support. Fine motor-bidextrous approach social – recognizes mother language-cooing present. Anthropometry: Wt - 6 kg length - 68 cm HC: 41 cm Us: ls 1.6:1 differential diagnosis include conditions such as Kahn's nutritional recovery syndrome infections of central nervous system hypoglycemia hypomagnesemia, heredofamilial degenerative diseases HyperthyroidismMegaloblastic anemia investigations complete blood picture: Hemoglobin - 6.5 g% white blood cell count - 4, 800 cells/cumm with neutrophils and lymphocytes in normal ratio platelets: 320,000. PS: Dimorphic anemia. GRBS: 121 mg/dl, serum calcium: 8.4 mg/dl, serum magnesium: 2.3 mg/dl. Baby was diagnosed as infantile tremors syndrome and managed with Iron at 3 mg/kg/day calcium: Ossopan D with 125 mg and 200 IU, Vitamin D/5 ml propranolol: 1 mg/kg/day (5 mg OD) injection B12 im 1000 mcg/3 days, f/b maintenance. Along with other nutritional supplements. Baby improved completely with the treatment. Treatment: The mainstay of treatment for hemangioma, i.e., oral propranolol cerebral dysplasia may present as ataxia and hypotonicity in the future which is to be treatment by physiotherapy. Conclusion:Infantile tremor syndrome is a self-limiting clinical disorder in infants and young children. It has an acute or gradual onset with mental and psychomotor changes, pigmentary disturbances of hair and skin, pallor, and tremors. Excluding other metabolic disorders are essential, and the treatment response is good.


  Infected occipital dermal sinus with cerebellar abscess Top


Radha V. Krishna Bhavani Varikuntla1

1NRI Medical College, Guntur, Andhra Pradesh, India E-mail: [email protected]

Patient Particulars: A 3-year-old male child, immunized completely moderately built and well-nourished with normal general status. Case History: A 3-year-old boy presented with a history of swelling in the occipital region associated with purulent discharge from punctum since 15 days. His parents also gave a history of fall on back associated with on and off drowsiness. There was no history of external injuries, vomiting, and ENT bleed. On Examination: A swelling approximately 3 cm × 3 cm in size, soft, fluctuant, central punctum with purulent discharge. Differential Diagnosis: (1) Trauma – infected hematoma, (2) Infective– infection (abscess), (3) Congenital – dermoid (infected). Investigation: Patient was investigated for computed tomography scan of head plain and contrast, which revealed large ring enhancing posterior fossa lesion with internal fluid density, perilesional edema in vermis and left cerebellar hemisphere causing mass effect on 4th ventricle, with obstructive hydrocephalus, extracranial extension through the defect in the occipital bone forming collection under the scalp. Treatment:The patient was operated in prone position, midline vertical skin incision given. Suboccipital craniectomy done, dermal sinus track was traced ending in dermoid with abscess formation. Excision of dermal sinus, dermoid, and abscess were done. Then followed by systemic antibiotic therapy

  • Biopsy report: Infected dermoid cyst.
  • Prognosis: satisfactory with a good outcome
  • Postoperative period was uneventful.
  • Follow-up: Child came for review after 1 month of surgery and child is doing well.



  Unusual presentation of native mitral valve infective endocarditis with multiple septic emboli Top


Krishnaswathi Pavuluri1, Sowmya Mani Pratti1

1NRI Medical College, Chinakakani, Andhra Pradesh, India

E-mail: [email protected]

History: A 22-year-old female patient came with a chief complaint of fever and chest pain since 6 months. Fever with chills and rigors. Palpitations, breathlessness, and dry cough 2 months. Generalized edema 20 days back which lasts for 10 days and subsided with medication. No similar complaints in the past. Examination: On general examination, clubbing of grade-3 and pallor present. Radial and brachial pulses on the right side absent, while the pulses on the left lower limb and dorsalis pedis on the right side absent. Left side radial pulse is about 100/min. On systemic examination, auscultation-pansystolic murmur in the mitral area which is radiating to the pulmonary area and axilla, associated with thrill, grade 5/6. Differential Diagnosis-Sle: Atrial myxoma, antiphospholipid syndrome, polymyalgia rheumatica, lyme disease, and reactive arthritis. Investigations: Blood culture, white blood cell - neutrophilic leukocytosis, serum creatinine-1.7. Erythrocyte sedimentation rate - 100 mm/h. Echocardiogram-vegetations attached to anterior and posterior mitral leafl ets, severe mitral regurgitation, mild tricuspid regurgitation with pulmonary hypertension, normal left ventricular systolic function. Doppler of right upper limb - thrombosis of second part of right subclavian artery, absent flow in brachial, radial and ulnar arteries. Doppler of left lower limb-diffuse narrowing of common iliac artery color Doppler-absent color flow in dorsalis pedis artery. Cect Abdomen: Near total thrombosis of left main renal artery and small saccular aneurysm of distal branch of RT. superior mesenteric artery. US: Mild splenomegaly. Treatment: conservative treatment and mitral valve replacement surgery.


  Intraventricular septal aneurysm rupturing into right ventricle with left to right shunt following acute inferior wall myocardial infarction Top


Akhila Sai Sree Cherukuri1

1NRI Medical College and General Hospital, Vijayawada, Andhra Pradesh, India

E-mail: [email protected]

Introduction: Intraventricular septal aneurysm rupture is a rare serious complication in patients with acute myocardial infarction (MI). Incidence is 1% and is associated with high mortality. Here, we present a case of 60-year-old male who developed intraventricular septal aneurysm following acute inferior wall MI (IWMI) that has ruptured into right ventricle subsequently. Case was diagnosed by clinical and echocardiographic examination. He was managed conservatively and subjected to revascularization and surgical closure of the aneurysm. He recovered well and is in follow-up. Case History: A 60-year-old male presented elsewhere with retrosternal chest pain 1 month back, sudden in onset, lasted for 10 min, associated with sweating, relieved on medication. After 15 days, he developed shortness of breath which progressed gradually in functional class 2–3. No history of angina, palpitations, syncope. He is a known hypertensive, not a known diabetic/asthmatic. He is a smoker and alcoholic. He is conscious, coherent, and cooperative. Body mass index - 20 kg/m2. Pulse - 90 beats/min regular, high volume. All peripheral pulses equally felt. Blood pressure - 137/83 mmHg of right upper limb. Respiratory rate-24 breaths/min, temperature-98.4F. He is pale but no clubbing/cyanosis/pedal edema/lymphadenopathy, Jugular venous pressure normal. Cardiovascular examination showed apex in left 5th intercostal space in mid clavicular line and hyperdynamic, systolic thrill is present in left 3rd intercostal space. Normal S1, S2 with pan-systolic murmur (grade-4) heard near lower left sternal border. All other systems are normal. Investigations: Electrocardiogram - evolved IWMI. X-ray chest - mild cardiomegaly. ECHO-RWMA (PDA territory), large intraventricular septal aneurysm rupturing into RV with LT→RT shunt, fair LV, and RV systolic function. CAG revealed, TVD (LAD, LCX, and RCA). Diagnosis: coronary artery disease, IWMI with intra ventricular septal aneurysm rupturing into RV with Lt→Rt ShUNT. Treatment: Coronary artery bypass grafting and aneurismal repair.


  Periampullary duodenal gastrointestinal stromal tumor presenting as a pancreatic head tumor Top


Roshan Abhinav Mekala1, Kavya Nalluri1

1Osmania Medical College, Hyderabad, Telangana, India E-mail: [email protected], [email protected]

Introduction: Gastrointestinal stromal tumors (GISTs) are quite rare tumors with an incidence of annually only 10–15/ million. They are the most common mesenchymal tumors of the GI. For sporadic GISTs, there is no gender difference and the median age at the time of diagnosis is 60 years. GISTs can occur anywhere in the GI but mostly affect the stomach (60%), jejunum and ileum (30%), and only 4–5% arise in the duodenum. Only a few cases have been described with extra-GISTs. They are often diagnosed as a pancreatic head tumor as they are very difficult to relate to the duodenum with computed tomography (CT), magnetic resonance imaging, or ultrasound. Case Report:A 40-year-old female patient named Parveen Begum presented with the chief complaints of swelling and pain in the right upper part of the abdomen, radiating to the back, since 7 months along with the loss of appetite and weight. On Examination: The patient was undernourished, anemic, and icteric. A hard, irregular, non-tender, retroperitoneal lump measuring 6 cm × 5 cm was present in the right hypochondrium. It was moving cephalocaudally with respiration. Dull note was heard on percussion. Differential Diagnosis: Pancreatic head tumor and acute pancreatitis. Diagnostic Investigations: CT Scan, CA 19-9 tumor marker level, ultrasonography (USG)-abdomen, complete blood picture, random blood sugar, liver function tests, USG guided fine-needle aspiration cytology, serum urea, serum amylase, and serum creatinine. Treatment: Surgical excision by Whipple's procedure. Follow-up: Good recovery with normal bowel and bladder movements.


  Isolated perforation of gall bladder Top


Malvika Nagpal1

1Government Medical College, Akola, Maharashtra, India

E-mail: [email protected]

Introduction: Patient does not recall antecedent events leading to blunt injury to the abdomen. The history was unreliable. Examination The patient was febrile and had mild tachycardia and dyspnea. Tenderness was present over right hypochondrium. Multiple closed lacerated wounds, and shallow penetrations of skin were present over front and back of size 0.5 cm × 0.5 cm × 0.5 cm and 1 cm × 0.5 cm × 0.5 cm respectively. Differential Diagnosis: Hemoperitoneum, peritonitis, laceration of liver. Investigations: Ultrasonography revealed mild free fluid collection in lower abdomen, no evidence of any solid organ injury. X-ray of chest showed air fluid level in right costophrenic angle. Treatment: Exploratory laparotomy was performed. Around 150 ml of frank bile was encountered and viscera was bile stained. Liver, spleen, intestines, and stomach were normal. A small breach of peritoneum draping the anterior abdominal wall in right hypochondrium was noted. This perforation and presence of frank bile led to high suspicion of gall bladder injury. On manipulation of gall bladder exudation of bile was seen tracking between its layers. A small subcentimetric breach in integrity of a contused gall bladder was noted. Cholecystectomy was performed, and drains were put in abdomen. Prognosis:The recovery was uneventful. The patient was discharged after 1 week without any complications. Follow-up: Patient was called after 1 week to check the operation site. No other follow-up was required.


  Laurence Moon Biedl Syndrome Top


R. Varnika1

1Osmania Medical College, Hyderabad, Telangana, India E-mail: [email protected]

Laurence–Moon syndrome (LMS) is a rare autosomal recessive genetic disorder associated with retinitis pigmentosa, extra digits, spastic paraplegia, hypogonadism, and mental retardation. Signs and Symptoms: Obesity, Moon face, Polydactyly, Mental retardation, Progressive loss of vision, Spastic paraplegia Investigations: Complete blood picture, complete urine examination, electrocardiogram, liver function test, renal function test, and ophthalmologist opinion. Diagnosis: LMS. Treatment: Weight reduction, diet restriction, and exercise. Regular eye checkup for retinitis pigmentosa. Psychiatric evaluation for developmental assessment. Orthopedic referral for polydactyly.


  Lutembacher's Syndrome Top


Vadlamudi Vinuthna1

1MNR Medical College, Sangareddy, Telangana, India E-mail: [email protected]

Introduction: Lutembacher's syndrome (LS) is a very rare cardiac clinical entity refers to combination of atrial septal defect (ASD) (usually of septum secundum type) and mitral stenosis (MS) (mostly of rheumatic origin) with incidence of 0.001/10 lakhs population. Case Report: A 26-year-old male, agricultural labor, presented with dyspnea on exertion (NYHA grade-3) which was insidious in onset gradually progressed over 1 year, more on lying down and associated with palpitations, bilateral pedal edema since 15 days. On examination, he was afebrile with bilateral pitting pedal edema and elevated jugular venous pulse, pulse was low volume irregularly irregular, blood pressure was 110/80 mm of mercury with respiratory rate of 26/min on precardial examination apical impulse was in 5 intercostal space tapping type, left parasternal heave was present. On auscultation loud s1 and mid-diastolic murmur of grade 3/6 in mitral area, wide fix splitting of s2 with ejection systolic murmur of grade 3/6 in pulmonary area. A pan systolic murmur of grade 4/6 along the left lower sternal border was present. Respiratory system reveals bilateral creps, per abdomen wise tender hepatomegaly was there. Electrocardiogram was showing atrial fi brillation, incomplete right bundle branch block with right axis deviation. Chest X-ray reveals pulmonary plethora, cardiomegaly, and dilated pulmonary conus. Two-dimensional echocardiogram reveals large ASD with severe MS, he was diagnosed to have LS and stabilized hemodynamically, later on the patient was undergone a successful ASD closure with mitral valvuloplasty, and the patient followed up with penicillin prophylaxis. Conclusion:LS is a very rare complex combination of congenital and acquired valvular lesions. Early diagnosis and operative treatment have a good prognostic value but late diagnosis and development of heart failure and pulmonary hypertension bears bad prognosis, early diagnosis, and management can reduce mortality and morbidity.


  Meckel–Gruber Syndrome Top


Seri Amith Reddy1

1Osmania Medical College, Hyderabad, Telangana, India

E-mail: [email protected]

Introduction: Meckel–Gruber syndrome is a rare autosomal recessive lethal malformation characterized by typical manifestations of renal cystic dysplasia, central nervous system malformations (occipital encephalocele), polydactyly, and pulmonary hypoplasia due to oligohydramnios. One such rare case at 28 weeks of gestation was terminated, and its case report with the phenotypic features, fetal autopsy, and histopathological examination are discussed. Case Summary: A 26-year-old female (G3P2 L2) came for an antenatal checkup. An ultrasound was done. Ultrasound findings: Bilateral echogenic kidneys, occipital encephalocele, cleft lip and cleft palate. As there is no effective treatment and cure for this syndrome, the mother opted for an abortion. An autopsy was done on the fetus to confirm the diagnosis


  Mesenteric cyst: A rare case report Top


Anil Kumar Makkuva1

1NRI Academy of Sciences, Mangalagiri, Guntur, Andhra Pradesh, India

E-mail: [email protected]

Introduction: Mesenteric cysts are one of the rare cysts observed in abdomen with a frequency of 1 in 100,000 adults. Defi ned as cyst located in the mesentery which has a lining of endothelium or mesothelium, mesenteric cyst can occur anywhere in the mesentery of gastrointestinal tract from duodenum to rectum. Most frequent location is small bowel (70%) and commonly localized in ileal mesentery (50–60%). Case History:A 48-year-old female came with c/o pain in lower abdomen since 2 months. Insidious in onset and gradually progressed. Dull aching, continuous, nonradiating, not associated with food intake. No H/O of fever, vomiting, loose stools/constipation. Known diabetic for 4 years. Underwent 2 Cesarean sections, tubectomy. Attained menopause 5 months back. Examination:On inspection, single mid line scar below umbilicus present. On palpation, tenderness in right hypochondrium and lumbar region, 10 cm × 8 cm mass is palpable in right hypochondrium, lumbar, and iliac region. Borders are well-defined, surface is smooth, and consistency is soft. Mobile in horizontal direction and not moving with respiration. On percussion, dull note is present over swelling. Provisional Diagnosis: Mesenteric cyst. Differential Diagnosis:Omental Cyst, hydronephrosis. Investigations: Ultrasonography – 10 cm × 9.5 cm lesion found in right hypochondrium? Mesenteric cyst. Treatment -Exploratory Laparotomy: A large cyst of size 15 cm × 13 cm is found near large bowel on the right side. Adhesions removed and cyst excised. Histopathological Examinaton: Mesenteric cyst.


  Metachromatic leucodystrophy Top


Pothuraju Lathasree1

1Osmania Medical College, Hyderabad, Telangana, India

E-mail: [email protected]

Introduction: Metachromatic leukodystrophy (MLD, also called arylsulfatase a defi ciency) is a lysosomal storage disease which is commonly listed in the family of leukodystrophies as well as among the sphingolipidoses as it affects the metabolism of sphingolipids. It has a recessive autosomal inheritance pattern. The incidence of MLD is estimated to occur in 1 in 40,000–1 in 160,000 individuals worldwide and here we are presenting such rare case. Case Summary: A 3-year-old male boy was admitted with a complaint of regression of milestones after 1 year of age. He gave a history of difficulty in walking with support initially, later on developed diffi culty to sit and neck holding is lost, able to speak bisyllables was unable to speak in sentences and history of breathlessness since 20 days. No history of fever, cough, cold, seizures, bowel, and bladder disturbances but unaware of bladder and bowel habits. He was born of 3rd-degree consanguineous marriage and his birth, and developmental history was normal until 1 year of age. No significant family history. Examination: Height: 74 cm, weight: 5 kg (<3rd percentile), head circumference: 43 cm (<3rdpercentile)-microcephaly, low set ears, pallor present, no cyanosis, clubbing, and fixation of vision. Palate is normal, teeth malformed, spine-scoliosis, extremities are normal. Central nervous system: Tone: Hypotonia in upper limbs, hypertonia in lower limbs, deep tendon reflexes are absent in both upper and lower limbs, plantar reflex is positive. CVS: S1, S2 heard. P/A: soft. Investigations: Hemoglobin% - 4.2 g/dl, white blood cell count: 15, 600/mm3, platelet count: 51, 000/mm3, random blood glucose: 79 mg/ dl, serum urea: 15 mg/dl, serum creatinine:0.8 mg/dl, Na+: 140 meq/dl, K+: 2.8 meq/dl, Cl: 107 meq/dl, ophthal examination: Normal, computed tomography scan: Small hypodensity noted in left paraventricular white matter. Impression: Neurodegenerative disorder, spastic quadriparesis but diminished deep tendon refl exes, microcephaly. Magnetic resonance imaging: Altered signal intensity on T2W1, fluid attenuation inversion recovery with restriction on DW1 noted in corpus callosum, bilateral cerebellum, midbrain, periventricular white matter with few cyclic changes suggestive of demyelinating disease white matter disease-MLD. Suggested: magnetic resonance spectroscopy and contrast study. Treatment:There is currently no treatment or cure for MLD. Anemia was corrected. Symptomatic treatment in lines of pneumonia and for spasticity of lower limbs baclofen was given in increasing doses by starting it from lower doses. Physiotherapy was advised for better improvement of the baby.


  Meyenburg-Altherr-Uehlinger Syndrome: A case of relapsing polychondritis Top


Ifrah Fathima1, Juveria Javid1

1Osmania Medical College, Hyderabad, Telangana, India

E-mail: [email protected], [email protected]

With an estimated evidence of 3.5 cases per million per year, relapsing polychondritis is an uncommon disorder of an unknown cause, predominantly affecting the ear, nose, and the laryngotracheobronchial tree. We present the case of a 33-year-old gentleman, Mr. Rajesh from Warangal district. He came to the OPD of Government ENT Hospital with the chief complaint of hoarseness of voice since 5 years. He underwent a tracheostomy in 2010. On examination, saddle nose deformity was seen. On video laryngoscopy, bilateral abductor palsy was seen, the vocal cords were almost touching each other. Mild tracheomalacia was seen. Differential diagnosis: Steward's granuloma, Wegener's granulomatosis, Syphilis, Lupus vulgaris, Relapsing Polychondritis. Investigations: Complete blood picture - normal, serum creatinine - normal, liver function tests - mild rise in conjugated bilirubin, biopsy of the cartilage - positive for inflammation, evidence of saddle nose deformity and laryngotracheal involvement with a positive biopsy report satisfy the McAdam's criteria for the diagnosis of Relapsing Polychondritis (Meyenburg-Altherr-Uehlinger syndrome Treatment: A partial arytenoidectomy was done after which, with the tracheostomy tube closed, he was comfortable at rest. Evidence from medical literature does not support surgery in such cases, but since the partial arytenoidectomy showed satisfactory results, now a total arytenoidectomy is being planned.


  Mucinous cystadenoma associated with uterus didelphys bicollis (in an adolescent) Top


Bushra Fathima1, Shagufta Tasneem1

1Osmania Medical College, Hyderabad, Telangana, India E-mail: [email protected]

Introduction: Rare among adolescents, mucinous cystadenoma is a benign ovarian tumor, constituting 15% of ovarian tumors. It occurs most commonly in middle aged women. Rapid enlargement of ovarian mass in an adolescent makes this case interesting. Patient Particulars: Our case is of an 18-year-old unmarried female from Anantapur. History: She presented with a 2 months history of lower abdominal pain and abdominal mass rapidly increasing, at the Gynaecology OPD of Niloufer hospital, Red Hills. There was no history of vomiting, menstrual irregularities, medical diseases, and surgeries, with normal bowel and micturition. Menarche commenced at 15 years, with regular cycles. Examination: General examination revealed normal vital signs. On abdominal examination, mass of 20 weeks size 13 cm × 10 cm, cystic, nontender, with upper and lateral borders well-defined was observed. Lower border was not palpable. Genitalia examination showed a normal vulva with intact hymen, hence per speculum and per vaginal examination was suspended. Digital rectal examination revealed left adnexal mass. Differential Diagnosis: Differential diagnosis of ascites, ectopic pregnancy, pregnant uterus, myomas, teratoma, and other abdominal tumors was made. Ascites were ruled out by percussion. Investigations:Further investigations revealed negative pregnancy test, normal serum electrolytes, urea, creatinine, and hormones. CA125 was raised. Ultrasonography verified left complex cyst. On magnetic resonance imaging, left mucinous cyst was confirmed with uterus didelphys bicollis, a mullerian duct anomaly. Left kidney not visualized. Diagnosis of left ovarian mass was made. Patient was counseled with consent taken for surgical exploration. Treatment: Left Salpingo-oophorectomy was performed. Microscopic examination findings were compatible with Mucinous Cystadenoma. Prognosis: Postoperative recovery was uneventful. Patient was discharged on the 7th postoperative day. Follow-up: To be followed up every 3 months and at the time of conception.


  Osteopetrosis (Marble Bone Disease) Top


Juveria Fatima1, Maryam Afifa1

1Osmania Medical College, Hyderabad, Telangana, India E-mail: [email protected]

History: A 4-year-old female child brought with c/o gross abdominal distension, discharge from the left ear with fever and deviation of mouth to right with inability to close left eye since 15 days.

  • H/O motor developmental delay (inability to stand)
  • No H/O limb weakness


On Examination

  • Pt c/c
  • Pallor+
  • Axillary LN+, inguinal LN+
  • Nystagmus+
  • Dysmorphic facies: Frontal bossing +
  • Depressed nose
  • Widened wrists
  • Bowlegs
  • Anthropometry
  • Height:78.5 cm - <3rd percentile
  • Weight: 11 kg - <3rd percentile


Systemic Examination

  • Central nervous system: LMN type 7th nerve palsy
  • Tone: normal
  • Power: 4/5
  • Deep Tendon Reflexes: ankle jerk 3+
  • CVS: S1S2+ve
  • Respiratory
  • Per Abdomen: Distension +
  • Liver and spleen palpable


Work Up

  • Complete blood picture: Hemoglobin - 5.5 g%, anisocytosis, polychromasia ++
  • Alkaline phosphatase levels: elevated
  • X-ray wrist joint: sclerotic bones
  • X-ray skull: sclerotic mastoids
  • Entire skull thickened and dense computed tomography scan: non pneumatization of mastoid loss of corticomedullary differentiation
  • Diagnosis: Osteopetrosis/marble bone disease



  A rare case of Phace syndrome Top


Nikita Maddargi1

1MNR Medical College, Sangareddy, Telangana, India E-mail: [email protected]

Introduction: Neurocutaneous syndromes are a group of rare multiple congenital abnormalities mainly involving central nervous system (CNS) and skin. PHACE syndrome in a rarer form of neurocutaneous vascular syndrome characterized by CNS, cutaneous, vascular, and ocular anomalies. We report a case of PHACE syndrome in a 3-month-old female child. Case:A 3-month-old female infant was brought by her mother with chief complaints of large lesion on left side of face since 2 months of age which is growing in size is now extending onto left eye measuring 15 cm × 10 cm in size, soft and compressible with bruit heard over the lesion. Routine blood and urine examinations are within normal limits. X-ray chest, ultrasound abdomen, and two-dimensional echocardiogram were normal. Plain computed tomography brain: showed pachygyria in right parieto-occipital area with polymicrogyria indicating cerebral dysplasia, posterior fossa – cerebellar hemispheres showing afolia indicating cerebellar dysplasia with soft tissue mass extending into left orbit. PHACE syndrome was diagnosed as the case fulfilled major criteria of posterior fossa structural abnormalities with cutaneous hemangiomas. This case need to be differentiated from other neurocutaneous syndromes such as Sturge–Weber Syndrome which also is characterized by vascular malformations of CNS. Prognosis depends upon the severity of the CNS abnormalities. Treatment: The mainstay of treatment is for hemangioma, i.e., oral propranolol. Cerebral dysplasia may present as ataxia and hypotonicity in future which is to be treated by physiotherapy. Conclusion:A case of PHACE syndrome, a neurocutaneous syndrome is presented because of rarity and diagnostic difficulties in differentiation from other CNS syndromes of rarity and diagnostic difficulties in differentiation from other CNS syndromes.


  Plasma cell mastitis of breast: A case presentation Top


Manasa Sahas1

1MNR Medical College, Sangareddy, Telangana, India E-mail: [email protected]

Introduction: Plasma cell mastitis (PCM) is an uncommon chronic inflammatory disease of the breast in middle aged women. It need to be differentiated from malignancy as it clinically and radiologically mimics breast carcinoma. Case Report: A 35-year-old female presented with diffuse lump in the outer quadrant of the left breast with mild pain and tenderness. Patient gave H/O bloody discharge from the nipple. On examination, left breast lump was palpable in the outer quadrant, measuring 10 cm × 8 cm in size with variable consistency from soft, firm to hard. Lump was moving with the breast. Nipple and areola are pigmented, retracted, and pulled toward the lump. Skin over the breast was thickened with areas of redness and an area of Peau-d'orange appearance. Clinically, axillary lymph nodes were not palpable. A provisional diagnosis of carcinoma breast. Fine-needle aspiration cytology of the lump showed scanty cellularity with an occasional tight cluster of ductal cells. Ultrasonography of the breast showed heterogeneous cystic lesion with thickened walls with peripheral vascularity in 2–3'O clock position suggesting abscess. Subcutaneous edema noted. Multiple small nodes noted with preserved hila in left axilla. A lumpectomy was done with 5 cm wide margin. Microscopic examination, plasma cells, polymorphs, lymphocytes, and few foamy macrophages suggesting PCM. PCM is a distinct entity of mastitis. It is also known as granulomatous mastitis, was fi rst described by Cheatle and Cutler. It is a nonbacterial infl ammatory benign breast disease. PCM is typically found in women in from pubertal to menopausal women. The etiology is obscure. Rodman and Ingleby believed the disease may be due to action of enzymes that split milk-like substances secreted in the nonlactating women. It is thought that the aseptic inflammation of the breast is due to extravasation of intraductal secretions into periductal connective tissue. Treatment: Acute cases with large abscess are treated with incision and drainage under antibiotic cover the defi nitive treatments wide excision reoccurrence is treated with total mastectomy surgery is followed by corticosteroids in reducing dose. Conclusion:PCM is an uncommon chronic infl ammatory disease of the breast in middle aged women. A diffuse lump with nipple discharge is difficult to differentiate from carcinoma or chronic inflammation like tubercular mastitis of the breast


  Posterior reversible encephalopathy syndrome: A complication of preeclampsia Top


Ashrita Vanakuri1, Shruti Ganti1

1Kamineni Institute of Medical Sciences, Narketpally, Telangana, India E-mail: [email protected]

History: A 23-year-old woman from Nalgonda with 9 months of amenorrhea was referred to our hospital on 11/06/15 in view of Pregnancy Induced Hypertension since 4 days, fever, loss of vision in both eyes, and headache since that evening associated with 3 episodes of vomiting. Bilateral pedal edema since 15 days. Present pregnancy: regular antenatal checkups done, quickening felt-24 weeks. History revealed a spontaneous abortion at 2 months. Examination: Patient was febrile, had mild pallor, bilateral pedal edema. She had a pulse of 100 beats/ min with a blood pressure: 140/90 mm of Hg. Bilateral absent knee jerk, pupils nonreactive to light. Per Abdomen: Term size uterus, irritable, cephalic presentation, adequate liquor. FHS +. Per vaginal: Cervix-3/4th inch long, os admitting one finger, soft. Differential Diagnosis: Medical: cerebral venous sinus thrombosis, intracerebral hemorrhage. Investigations: Complete urine examination: albumin ++, Pus cells 3–6. Hemoglobin - 10.1 g %. Ultrasonography, Doppler – normal. Treatment: Informed high risk consent taken. Emergency lower segment cesarean section performed, live female baby of 2.5 kg on 12/06/15 at 1:59 AM delivered. Blood pressure controlled. Magnesium sulfate given. Magnetic resonance imaging brain taken postoperatively revealed hyperintense areas involving both occipital regions and left basal ganglia. Improvement of vision by the 3rd postoperative day. Patient discharged on the 9th postoperative day. Follow-up: Review to OPD after 1 week - no neurological defi cits found.


  Yes! IT is acute pancreatitis Top


Nousheen1

1Kamineni Institute of Medical Sciences, Narketpally, Telangana, India

E-mail: [email protected]

Introduction: Acute pancreatitis is not necessarily a rare disease in children and adolescents. It may be life-threatening if it is severe. The etiology, manifestations, and course of the disease in children are often different from adults. The diagnosis of acute pancreatitis is based on clinical symptoms, serum pancreatic enzymes, and imaging studies. The present case is acute pancreatitis with normal serum amylase and lipase values. Case Summary: A 15-year-old girl presented to emergency department with diffuse abdominal pain and fever since 3 days and associated with headache and vomiting. On examination, there was epigastric tenderness. Differential diagnosis for above said included acute gastritis, acute pancreatitis, gallstones, and hepatitis. All laboratory investigations were normal including serum lipase and amylase. Ultrasound showed bulky pancreas with altered echotexture. Computed tomography scan showed swelling of pancreas with inflammatory changes suggestive of acute pancreatitis. The patient was put on intravenous fl uids and analgesics after which she had symptomatic relief. The patient was discharged 4 days after admission during which serial titers of serum amylase and lipase were taken which remained normal throughout. The patient was discharged and put on follow-up.


  Solitary rectal ulcer syndrome Top


Khan Ummiya Aafreen1

1Shadan Institute of Medical Sciences, Hyderabad, Telangana, India

E-mail: [email protected]

History: The patient is a 35-year-old female who was admitted with H/O pain in abdomen (left lumbar region) associated with the history of chronic constipation and blood in stools since 5 months. No H/O abdominal distension, jaundice, gastrointestinal bleed, vomiting, altered bowel habits, dysphagia, shortness of breath, decreased urine output, or altered sensorium. Examination: No pallor, icterus, pedal edema. RS/CVS-normal. P/A: Soft, nontender, no ascites. Diagnosis: Septicemia-urinary tract infection. Obstructive uropathy-left p. And pelvi-ureteric junction (PUJ) calculi. Solitary rectal ulcer syndrome. Anti-HCV antibody positive status. Investigation: On evaluation, routine blood investigation showed leukocytosis-septicemia. Renal function test and liver function test were normal. Computed tomography screening showed calculi in left PC junction and PUJ. Complete urine examination showed 3–4 leukocytes/HPF. Urine culture was negative. Blood culture showed growth of Gram-negative Bacilli. Antibiotics given according to culture sensitivity. Patient responded symptomatically and fever subsided. Sigmoidoscopy (22.07.15) was suggestive of ulcer at anorectal junction. Histopathological examination suggestive of solitary rectal ulcer. Managed conservatively. Patient was also detected to have anti-HCV antibody positive (1.36). Investigations Done:Ultrasonography abdomen and pelvis (elsewhere) normal study except posterior wall fibroid. Video endoscopy hiatus hernia. Treatment: She was treated with intravenous fl uids, antibiotics, analgesic, proton pump inhibitor, and other supportive measures. She is now discharged in stable condition and advised to be in close follow-up.


  Supravalvular aortic stenosis Top


Nethagani Sanjana1, Alina Khan1

1Osmania Medical College, Hyderabad, Telangana, India

E-mail: [email protected]

Introduction: Supravalvular aortic stenosis (SVAS) is a congenital narrowing of the aorta just above the aortic valve. It is a fixed form of congenital left ventricular outflow tract obstruction (LVOTO) that occurs as a localized or diffuse narrowing of the ascending aorta beyond the superior margin of sinuses of valsalva. SVAS occurs 1 in 20,000 live births worldwide. We present a case of SVAS in a 15-year-old young boy, admitted to OGH, in cardiology department, with the primary complaints being palpitations and dyspnea on exertion since 1 year. He has not showed symptoms of SVAS for the first decade of his life and presented with symptoms 1 year ago. He denies of any chest pain which he mentioned on probing when being evaluated for bleeding P/R for suspected hemorrhoids.

H/O present illness: Occasional episodes of palpitations since 1 year.

Dyspnea grade 1 progressed to grade 3 not associated with chest pain/giddiness/sweating.

Associated with fatigue on prolonged playing in the form of weakness of hands and feet.

Bleeding per rectum since 3 months associated with constipation.

Past H/O: No similar complaints in the past.

H/O of delayed milestones.

Impaired school performance.

General Examination: Moderately built and nourished. Abnormal facies present.

Vital Data: PR-98 beats/min – regular

Low volume pulse.

No brachiofemoral delay.

RR-20 breaths/min

Temperature - 98.6°F systemic examination: Inspection/Palpation-jugular venous pressure -Normal acv wave visible, with normal x and y descents, 3 cm above sternal angle. Carotid thrill palpable.

Parasternal pulsation palpable. Thrill palpable in right 1st ICS. Percussion-Left heart border corresponds to MCL. Right heart border corresponds to right sternal margin.

Apex impulse palpable in 4 th ICS medial to MCL with heaving type of apex impulse.

Auscultation-S1, S2 audible and of normal intensity. No S3/ S4, no additional sounds.

Grade 4/6 ejection systolic murmur of mixed frequency heard in right 1st ICS radiating to carotid region other systems are normal.

Differential diagnoses:

Other causes of LVOTO William's syndrome in view of LVOTO

Valvular Aortic Stenosis-Bicuspid type.

Investigations: Electrocardiogram

Plain radiograph of the chest

Ct-Angiogram

ECHO Cardiography Doppler

Ct angiogram showed short segment supravalvular narrowing of ascending aorta measuring 0.9 × 0.9 cm, with mild left ventricular enlargement. Plus the high location of murmur radiating toward carotid and no murmur in left 3rd ICS suggests that this is a case of SVAS.


  A case of systemic lupus erythematosus Top


Annam Saketh1, Vinod Kumar Solipuram1

1Osmania Medical College, Hyderabad, Telangana, India

E-mail: [email protected]

Introduction: A 26-year-old female, resident of Chevella, presented with the chief complaints of shortness of breath since 15 days and pain in epigastric region since 1 day. History: She was asymptomatic and gradually developed shortness of breath which aggravated on lying down. Chest pain radiating to neck since 3 days, postnatal depression since 2 days, generalized edema since 10 days which subsided on medication. O/E: Patient is afebrile, pulse rate (PR): 120/min, RR: 40/min, blood pressure: 140/100 mm of Hg. She had a cervical lymph node swelling and decreased breath sounds in left mammary and inframammary areas. Investigations: Hemoglobin - 11.6 g%, red blood cell -4.22 millions/cu.mm, white blood cell-8800 cells/cu.mm

Serum urea - 20 mg/dl, creatinine - 1.1 mg/dl, proteins - 5.5 g/dl, albumin - 2.4 g/dl, total bilirubin - 0.9 mg/dl

TSH-10.72 micro IU/ml

Urine - Proteins: 240 mg/dl, creatinine:85 mg/dl, P/C: 2.8, Antinuclear antibody-Anti ds-DNA antibody +

Chest X-ray: Old Koch's infiltrates with left-sided pleural effusion.

Echo-Concentric LVH, Severe LV systolic dysfunction, Grade-1 diastolic dysfunction, mild mitral regurgitation and tricuspid regurgitation

USG-Grade 2 RPC, massive Left pleural effusion, and mild Right pleural effusion, mild ascites

Pleural tap-colorless, 24 cells/cu.mm, dlc-neutrophils-20%, lymphocytes-80%, proteins-1.8 g/dl, sugars-88 mg/dl

ADA-12 IU/L

Cervical node biopsy-suggestive of reactive lymphadenitis Differential Diagnosis-tuberculosis; cardiac failure; Nephrotic syndrome

Treatment-Methyl Prednisolone, Thyronorm, Monocef, Piptaz, B complex, Hydroxychloroquine, Pleural tap

Follow-up-Low dose Corticosteroids and immunosuppressants to prevent recurrence


  A rare case of systemic onset juvenile idiopathic arthritis (SOJIA) presenting as persistent fever Top


Chinta Ravi Teja1, Soumya Singh1

1Jawaharlal Nehru Medical College, Belgaum, Karnataka, India

E-mail: [email protected]

Introduction: Systemic onset juvenile idiopathic arthritis (SOJIA) is also known as Still's disease or adolescent – onset Still's disease (to differentiate it from Adult onset Still's disease). It is a type of JIA with extra-articular manifestations such as fever and rash apart from arthritis. Still's disease is rare, population incidence of the disease in the general population is between 1 in 100,000 and 500,000. Case Report: A 16-year-old male presented to the hospital with a history of fever, joint pains, and throat pain since 3 months. The fever was high-grade with chills and generally occurred in the evenings. Joint pains involved both the large and small joints and were also migratory in nature. The patient also complains of throat pain since the last 2–3 months. His investigations: Raised total leukocyte count with neutrophilia, raised erythrocyte sedimentation rate, high sensitivity C-reactive protein, ferritin levels. All other causes for fever were ruled out. Antinuclear antibody profile and RA work-up came back negative. Discussion: We hereby present the case of a 16-year-old male with SOJIA/ Still's disease. Patients with Still's disease usually present with systemic symptoms. Extreme fatigue can accompany waves of high fevers that rise to 104°F or even higher and rapidly return to normal levels or below. A faint salmon-colored skin rash characteristically comes and goes and usually does not itch. There is commonly swelling of the lymph glands, enlargement of the spleen and liver, and sore throat. Still's disease is diagnosed purely on the basis of the typical clinical features of the illness. Persistent arthritis (arthritis lasting at least 6 weeks) is required to make a firm diagnosis of Still's disease. Other diseases (especially infections, cancers, and other types of arthritis) are excluded. Many criteria, e.g., Yamaguchi, Cush criteria have been designed to identify the adult variant of the disease. Conclusion:Ninety-five percent of the patients of Still's disease have the faint salmon-colored migratory skin rash. This is a rare case of Still's disease meeting the necessary diagnostic criteria but without the characteristic rash and hence tells us that Still's disease is an important differential diagnosis in persistent fever when all other plausible causes such as infection and malignancy have been ruled out.


  Takayasu arteritis Top


Dasari Utheja1, S. Susmitha Rao1

1Osmania Medical College, Hyderabad, Telangana, India

E-mail: [email protected]

Introduction: A 25-year-old female residing at Pothareddypet, Medhak came to osmania general hospital OPD with chief complaints of low-grade fever with rash since 6 months associated with left-sided back pain, dry cough, anxiety, palpitations, and giddiness since 6 months. She had no history of chest pain, orthopnea, postnatal depression, and decreased urine output. History: The patient is multigravida with obstetric formula P3L2A1 with gestational hypertension. She developed new onset hypertension 6 months back. On Examination: Blood pressure (BP) was found to be 170/110 mm of Hg in both upper limbs in sitting position. All peripheral pulses felt. On auscultation S1 and S2 heard. Bruit is heard over left renal artery. Investigations:(1) Erythrocyte sedimentation rate was found to be high-110 mm. Serum urea, serum creatinine, and serum electrolytes are within normal range. (2) Electrocardiogram, two-dimensional echocardiogram, and coronary angiogram had no abnormal findings, (3) ultrasound abdomen revealed left shrunken kidney, right kidney-11.4 cm × 4.6 cm normal echo texture left kidney - 7.6 cm × 3.4 cm - Grade 3 renal parenchymal changes, (4) Computed tomography (CT) scan of abdomen: Left small kidney - 6.4 cm × 2.8 cm, (5) renal Doppler: Isolated elevated acceleration times noted in segmental arteries of right kidney with dampened wave forms. Right renal artery showing normal waveforms and indices at origin and hilum. Flow could not be detected in left kidney. (6) CT scan renal angiogram + abdominal aortogram: Ostial narrowing of superior mesenteric artery-left contracted kidney-complete narrowing of ostium of left renal artery-mural thickening with calcification of infrarenal abdominal aorta -mild narrowing of ostium of inferior mesenteric artery-mild narrowing of left common iliac artery features suggestive of aorta arteritis involving Ostia of superior mesenteric artery and inferior mesenteric artery, infrarenal abdominal aorta - 40–50% stenosis, left renal artery - 90% stenosis, left common iliac - 60% stenosis. Differential Diagnosis: Connective tissue disorder with aortoarteritis, renal artery stenosis. (a) Polyarteritis nodosa, (b) takayasu arteritis: (1) Accelerated hypertension, (2) inflammatory aortitis (tuberculosis, lupus, rheumatoid arthritis). Treatment, Prognosis, and Follow-up: No surgical intervention was possible in this patient because of high-grade renal artery stenosis due to Takayasu arteritis. Medical Management: She is on steroids and anti hypertensives for past 2 months. (1) Tablet wysolone 60 mg OD tapered to 40 mg after 4 weeks. (2) Tablet amlodipine 10 mg BD. (3) Tablet pantoprazole 40 mg OD. BP came down gradually and now patient is in stable condition. She has been advised to attend the hospital monthly for regular follow-up. Summary:This is the case of a 25-year-old female, Manjula with atypical presentation of Takayasu arteritis involving the large internal arteries–abdominal aorta, renal artery, and common iliac artery. The classical presentation of Takayasu arteritis as pulseless disease is not seen here as all the peripheral pulses are felt.


  Tuberous sclerosis Top


Harshitha Mergey1, V. Mounika Reddy1

1Osmania Medical College, Hyderabad, Telangana, India

E-mail: [email protected], [email protected]

This is an autosomal dominant disorder with an incidence of 1 in 10,000 live births. It is also known as Bourneville's disease. Clinical manifestations are a triad of Epiloia which includes epilepsy, low IQ, and adenoma sebaceum. It is caused by mutation of either of two genes, TSC1 (chr9q34) and TSC2 (chr16p13.3), which code for the proteins Hamartin and Tuberin, respectively, which act as tumor growth suppressors agents. We present a case of a 17-year-old who came to OGH with the chief complaint of pain abdomen since 1½ month, and a history of epilepsy since 6 months of age for which she used antiepileptics for 1 year, later shifted to herbal medication. At 11 years of age, she had papular rash over forehead, cheek, chin for which she consulted dermatologist and got treated accordingly. No similar complaints in the family. The patient is conscious, coherent, and cooperative with no signs of pallor, icterus, cyanosis, clubbing, koilonychia, lymphadenopathy, and pedal edema. On examination, papular lesions over forehead, nasolabial folds, cheek, and chin; ash leaf macules and shagreen patches on the lumbosacral region were found. Gastrointestinal tract: soft, tenderness in right and left lumbar region. Central nervous system: IQ–normal, sensory and motor system normal, cranial nerves normal, cerebellum and gait normal. Other systems are normal. Differential diagnosis-periventricular nodular heterotopia, multiple endocrine neoplasia-1, Lennox Gastaut syndrome, hydrocephalus, Glioblastoma multiforme. Investigations: Complete blood picture, erythrocyte sedimentation rate, complete urine examination, electrocardiogram, renal function tests, and liver function tests – normal, ultrasonography and computed tomography (CT) abdomen-showed multiple bilateral angiomyolipomas. CT chest showed multiple bilateral cysts in lung parenchyma. Cardiac rhabdomyomas are not seen. CT and magnetic resonance imaging (MRI) brain showing calcifi ed cortical tubers and calcified subependymal nodules in the ventricle wall. Treatment: Symptomatic treatment for pain abdomen - Tramadol. Laser photocoagulation therapy for adenoma sebaceum. Prognosis:depends on the severity of the symptoms. The life expectancy of this patient is 45 years. Follow-up-regular monitoring of size of cysts and tubers by CT scan and MRI.


  Unilateral open lip schizencephaly associated with partial agenesis of corpus callosum Top


P. V. S. Sivesh1

1MNR Medical College, Sangareddy, Telangana, India

Schizencephaly is a rare developmental disorder of congenital cerebral malformation. We bring to your attention the case study of a 5-year-old female child reported with focal seizures and right hemiparesis since 5 months of her age. Her parents gave history of birth asphyxia and global developmental delay. On examination, decreased muscle bulk, increased muscle tone, decreased muscle power, exaggerated tendon reflexes on right upper and lower limbs, and up going plantars on right lower limb with hemiplegic gait was observed. Magnetic resonance imaging scan revealed open lip schizencephaly of left parietal cortex and partial agenesis of corpus callosum. Some of the differential diagnosis of the above case includes cerebral palsy, hypoxic ischemic encephalopathy, inherited metabolic diseases, congenital malformations of brain, inherited syndromes, perinatal strokes, perinatal infections, metabolic neuropathy, and epileptic disorders. Treatment includes injection paracetamol im/sos/1ampule, injection decadron 8 mg/i.v./t.id, injection monocef 750 mg/i.v./bd (100 mg/kg/day), injection amikacin 120 mg/i.v./bd (15 mg/kg/day), physiotherapy.


  Wegener's granulomatosis Top


B. Maneesha Chowdary1, Kavya Keerthi Vadlamudi1

1Osmania Medical College, Hyderabad, Telangana, India

E-mail: [email protected], [email protected]

A 35-year-old male patient Iqbal of Falaknuma presented with complaints of cough with scanty mucoid sputum and hemoptysis nasal discharge seropurulent since 45 days H/O high grade, intermittent fever with joint pains no similar complaints in past, and patient was started on empirical antituberculosis treatment on examination clubbing grade 1 seen. On palpation slight reduction of movements in right inframammary area dullness on percussion and bronchial sounds heard in rt infrascapular and rt infra-axillary area DD: Tuberculosis, pneumonia, aspergillosis. Investigations: Chest X-ray posterior-anterior view - cavity with consolidation in rt lower zone complete urine examination-proteinuria present (suggest glomerulonephritis) Complete blood picture - normal computed tomography chest-mediastinal lymphadenopathy, multifocal consolidation, cavitation, reticulonodular opacities (suggestive of Koch's). Fungal elements not seen on skin scrapings Sputum for C/S, Pus for C/S-negative for AFB c-ANCA (classical anti neutrophilic cytoplasmic antibodies) - positive and directed against proteinase-3 Diagnosis: Wegener's granulomatosis (upper respiratory tract - sinusitis lower respiratory tract-cavitations Kidney-glomerulonephritis). Treatment: Patient was given methotrexate - 15 mg/week and prednisolone 60 mg tapered to 40 mg.






 

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