Journal of Pediatric Neurosciences
CASE REPORT
Year
: 2017  |  Volume : 12  |  Issue : 1  |  Page : 80--82

A neonate with X-linked lissencephaly with ambiguous genitalia


Priyanka Minocha1, Anita Choudhary1, Shambhavi1, Sadasivan Sitaraman2 
1 Department of Pediatrics, Jay Kay Lon Hospital, SMS Medical College, Jaipur, Rajasthan, India
2 Department of Pediatrics, SMS Medical College, Jaipur, Rajasthan, India

Correspondence Address:
Shambhavi
Department of Pediatrics, Jay Kay Lon Hospital, Sawai Man Singh Medical College, Jaipur, Rajasthan
India

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.


How to cite this article:
Minocha P, Choudhary A, Shambhavi, Sitaraman S. A neonate with X-linked lissencephaly with ambiguous genitalia.J Pediatr Neurosci 2017;12:80-82


How to cite this URL:
Minocha P, Choudhary A, Shambhavi, Sitaraman S. A neonate with X-linked lissencephaly with ambiguous genitalia. J Pediatr Neurosci [serial online] 2017 [cited 2022 May 24 ];12:80-82
Available from: https://www.pediatricneurosciences.com/article.asp?issn=1817-1745;year=2017;volume=12;issue=1;spage=80;epage=82;aulast=Minocha;type=0