A Neonate with X-linked Lissencephaly with Ambiguous Genitalia.

J Pediatr Neurosci

Department of Pediatrics, SMS Medical College, Jaipur, Rajasthan, India.

Published: January 2017

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.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5437799PMC
http://dx.doi.org/10.4103/jpn.JPN_122_16DOI Listing

Publication Analysis

Top Keywords

ambiguous genitalia
12
x-linked lissencephaly
8
lissencephaly ambiguous
8
neonate x-linked
4
genitalia x-linked
4
genitalia rare
4
rare described
4
described syndrome
4
syndrome report
4
report neonate
4

Similar Publications

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!