| CASE REPORT |
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| 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
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/jpn.JPN_122_16
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.
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