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CASE REPORT
Year : 2020  |  Volume : 9  |  Issue : 8  |  Page : 4467-4469

Newborn with ambigous genitalia and refractory convulsions: Case report of XLAG syndrome


Department of Pediatrics, PGIMS, Rohtak, Haryana, India

Correspondence Address:
Dr. Anjali Verma
117 A, Sector 14, Rohtak, Haryana
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/jfmpc.jfmpc_922_20

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X-linked lissencephaly, absent corpus callosum, and epilepsy of neonatal onset with ambiguous genitalia are the classical features of XLAG syndrome and as of now very few cases have been reported in the literature. In this study, we present the case of XLAG syndrome who presented in neonatal period with refractory seizures and ambiguous genitalia. MRI brain showed abnormal gyral pattern with smooth broad gyri suggestive of Lissencephaly and agenesis of corpus callosum. Our index case survived for only 25 days. Early suspicion, genetic counselling, and prenatal radiological work-up of such cases will reduce further burden on the family.


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