ISSN - 0973-0958

Pediatric Oncall Journal View Article

X-Linked Lissencephaly and Ambiguous Genitalia
Rhea Shriyan, Pradeep Debata, Anita Yadav, Nidhi Chopra.
Department of Pediatrics, Vardhman Mahavir Medical College & Safdarjung Hospital, Delhi, India.
X-linked lissencephaly with corpus callosum agenesis and ambiguous genitalia (XLAG) is a newly recognised rare syndrome of severe neurological onset, caused by mutation in the aristaless-related homeobox (ARX) gene (Xp22.13). A term baby had abnormal genitalia with multiple multifocal clonic seizures, starting at 2 hours of life whose MRI of Brain revealed lissencephaly with corpus callosum agenesis suggestive of XLAG.

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