Minocha Priyanka, Choudhary Anita, Sitaraman Sadasivan
Department of Pediatrics, Jay Kay Lon Hospital, SMS Medical College, Jaipur, Rajasthan, India.
Department of Pediatrics, SMS Medical College, Jaipur, Rajasthan, India.
J Pediatr Neurosci. 2017 Jan-Mar;12(1):80-82. 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.
伴有生殖器模糊的X连锁无脑回畸形是一种罕见且最近才被描述的综合征。我们报告了一名患有该综合征典型特征的新生儿，这些特征包括无脑回畸形、胼胝体发育不全、新生儿期起病的难治性癫痫、后天性小头畸形以及具有生殖器模糊的男性基因型。该婴儿接受了积极的抗癫痫治疗。对该综合征的早期临床怀疑可以通过遗传咨询预防未来家族中出现此类情况。
