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A Neonate with X-linked Lissencephaly with Ambiguous Genitalia.

ABSTRACT: X-linked lissencephaly with ambiguous genitalia is a rare and recently described syndrome. We report a neonate presenting with the classical features of the syndrome which includes lissencephaly, agenesis of the corpus callosum, intractable epilepsy of neonatal onset, acquired microcephaly, and male genotype with ambiguous genitalia. The baby was managed aggressively with antiepileptics. Early clinical suspicion of the syndrome can prevent future such occurrences in the family through genetic counseling.

SUBMITTER: Minocha P

PROVIDER: S-EPMC5437799 | biostudies-literature | 2017 Jan-Mar

REPOSITORIES: biostudies-literature

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A Neonate with X-linked Lissencephaly with Ambiguous Genitalia.

Minocha Priyanka P Choudhary Anita A Shambhavi Sitaraman Sadasivan S

Journal of pediatric neurosciences 20170101 1

X-linked lissencephaly with ambiguous genitalia is a rare and recently described syndrome. We report a neonate presenting with the classical features of the syndrome which includes lissencephaly, agenesis of the corpus callosum, intractable epilepsy of neonatal onset, acquired microcephaly, and male genotype with ambiguous genitalia. The baby was managed aggressively with antiepileptics. Early clinical suspicion of the syndrome can prevent future such occurrences in the family through genetic co ...[more]

PMID: 28553390

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