[A case of neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination caused by a variant in NACC1 gene].

Abstract excerpt

患儿 男，7月17日龄，出生后即出现不明原因哭闹，喂养困难，夜间睡眠差，追视、注视差伴发育落后。患儿7月龄出现癫痫痉挛发作，体格检查头围<P3，双侧瞳孔局限性不规则白斑，口面部不自主运动多，肢体手足徐动。颅脑磁共振成像示髓鞘化延迟，盖塞尔发育评估示极重度低下水平，全外显子测序示患儿伏隔核相关1（NACC1）基因错义变异c.892C>T（p.Arg298Trp），诊断神经发育障碍伴癫痫、白内障、喂养困难和脑髓鞘形成延迟。予抗癫痫发作治疗，康复训练后发作减少，能力进步缓慢。.

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