Open AccessA neonate with X-linked lissencephaly with ambiguous genitalia
Author(s) -
Priyanka Minocha,
Anita Choudhary,
. Shambhavi,
Sadasivan Sitaraman
Publication year - 2017
Publication title -
journal of pediatric neurosciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.247
H-Index - 18
eISSN - 1998-3948
pISSN - 1817-1745
DOI - 10.4103/jpn.jpn_122_16
Subject(s) - lissencephaly , microcephaly , medicine , ambiguous genitalia , agenesis of the corpus callosum , corpus callosum , genetic counseling , external genitalia , pediatrics , agenesis , renal agenesis , epilepsy , anatomy , genetics , psychiatry , endocrinology , gene , biology , kidney
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.