Journal of Family Medicine and Primary Care

CASE REPORT
Year
: 2019  |  Volume : 8  |  Issue : 1  |  Page : 311--312

Joubert syndrome: A classic case


Puneeth Kumar, Amit Dey, Kartik Mittal, Rajaram Sharma, Anmol Goyal, Priya Hira 
 Department of Radiology, Seth GSMC and KEM Hospital, Mumbai, Maharashtra, India

Correspondence Address:
Amit Dey
Room NO. 107, KEM Main Boy's Hostel, Parel, Mumbai - 400 012, Maharashtra
India

Abstract

Joubert syndrome is a rare autosomal recessive disorder characterized by hyperpnoea and eye movements, hypotonia, ataxia, developmental retardation with neuropathologic abnormalities of cerebellum and brainstem including inherited hypoplasia or aplasia of vermis. Cerebellar vermin anomalies are described in other disorders such as Dandy-Walker and rhombencephalon synapsis. These disorders should be distinguished from Joubert syndrome on the basis of imaging. Comparison with typical imaging and clinical findings may be helpful for appropriate diagnosis.



How to cite this article:
Kumar P, Dey A, Mittal K, Sharma R, Goyal A, Hira P. Joubert syndrome: A classic case.J Family Med Prim Care 2019;8:311-312


How to cite this URL:
Kumar P, Dey A, Mittal K, Sharma R, Goyal A, Hira P. Joubert syndrome: A classic case. J Family Med Prim Care [serial online] 2019 [cited 2019 Sep 22 ];8:311-312
Available from: http://www.jfmpc.com/text.asp?2019/8/1/311/251125


Full Text



 Case Report



A 1-year-old female child born to nonconsanguineous parents was admitted with delayed milestones and one episode of seizures. There was no history of birth asphyxia. Pregnancy and delivery were uneventful. The head circumference was normal. There was delay in speech and language development. Abdominal ultrasound was normal. Magnetic resonance imaging (MRI) brain was advised and sent to MRI department for the same. Axial T2-weighted images at the level of mid-brain shows median cleft, which is seen separating the cerebellar hemispheres and communicating with fourth ventricle, producing the typical bat wing (open umbrella) (solid arrow) appearance [Figure 1]a.{Figure 1}

MRI revealed enlargement of posterior fossa with absence of cerebellar vermis [Figure 1]c and elongated bilateral superior cerebellar peduncle giving molar tooth appearance [Figure 1]b. There was mild colpocephaly seen. Joubert syndrome was hence diagnosed.

 Differential Diagnosis



Cerebellar vermin anomalies are described in other disorders such as Dandy-Walker and rhombencephalon synapsis. These disorders should be distinguished from Joubert syndrome on the basis of imaging.[1]

 Discussion



Joubert syndrome is a rare autosomal recessive disorder characterized by hyperpnoea and eye movements, hypotonia, ataxia, developmental retardation with neuropathologic abnormalities of cerebellum and brainstem, including inherited hypoplasia or aplasia of vermis, and has a prevalence of less than 1 in 100,000.[1],[2] Vermin hypoplasia and abnormalities of the pontomesencephalic junction are the distinguishing features that lead to the diagnosis of Joubert syndrome.[3],[4]

The primary MRI features of Joubert syndrome are: (1) small dysplastic or aplastic cerebellar vermis, (2) absence of fiber decussation in superior cerebellar peduncles and cerebellar tracts, (3) abnormal inferior olivary nucleus, and (4) dysplasia and heterotopia of cerebellar nuclei. The posterior fossa typically shows a bat wing-like appearance of fourth ventricle and prominent thickened elongated superior cerebellar peduncles gives characteristic of molar tooth-like appearance. In minority of cases minor lateral ventriculomegaly (6–20% of cases) and corpus callosal dysgenesis (6–10% of cases) are also present.[3]

As the recurrence rate is 25%, prenatal counseling and screening is required.

Prenatal diagnosis of at-risk pregnancies is now possible using serial ultrasounds combined with fetal MRI at 20–22 weeks gestation.[5] These patients are also sensitive to respiratory depressant effects of anesthetic agents such as opiates and nitrous oxide. Hence, the use of these anesthetic agents should be avoided in these patients.[6]

Today, we still do not have a causa therapy for Joubert syndrome, so pediatricians and primary care physicians can help diagnose the disease earlier and offer prenatal diagnosis and genetic counseling to those who have been confirmed by gene mutation. They can advise appropriate physiotherapy and rehabilitation programs that will certainly improve normal motor development and functionality during the treatment processes of Joubert syndrome.

 Conclusion/summary



The purpose of this case report is to describe the typical imaging features of Joubert's syndrome. MRI is the investigation of choice. Cerebellar vermin anomalies are described in other disorders such as Dandy-Walker and rhombencephalon synapsis. These disorders should be distinguished from Joubert syndrome on the basis of imaging. Comparison with typical imaging and clinical findings may be helpful for appropriate diagnosis.

 Declaration Form



Submission of an article “Infantile endobronchial tuberculosis” in Indian Journal of Tuberculosis implies that the work described has not been published previously (except in the form of an abstract or as part of a published lecture or academic thesis or as an electronic preprint, that it is not under consideration for publication elsewhere, that its publication is approved by all authors and tacitly or explicitly by the responsible authorities where the work was carried out, and that, if accepted, it will not be published elsewhere in the same form, in English, or in any other language, including electronically without the written consent of the copyright-holder. Informed consent is taken.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

References

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2Brancati F, Dallapiccola B, Valente EM. Joubert syndrome and related disorders. Orphanet J Rare Dis 2010;5:20.
3van Beek EJ, Majoie CB. Case 25 Joubert syndrome. Radiology 2000;216:379-82.
4Barkovich A. Pediatric Neuroimaging. Philadelphia: Lippincott Williams & Wilkins; 2002. p. 345-6.
5Doherty D, Glass IA, Siebert JR, Strouse PJ, Parisi MA, Shaw DW, et al. Prenatal diagnosis in pregnancies at risk for Joubert syndrome by ultrasound and MRI. Prenat Diagn 2005;25:442-7.
6Habre W, Sims C, D'Souza M. Anaesthetic management of children with Joubert syndrome. Pediatric Anaesth 1997;7:251-3.