Farmania Rajni, Jain Puneet, Sharma Suvasini, Aneja Satinder
1 Division of Pediatric Neurology, Department of Pediatrics, BL Kapur (BLK) Super Speciality Hospital, Pusa Road, New Delhi, India.
2 Division of Neurology, Department of Pediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada.
J Child Neurol. 2019 Jun;34(7):410-414. doi: 10.1177/0883073819833543. Epub 2019 Mar 11.
Congenital disorders of glycosylation (CDG) are multisystemic inherited metabolic disorders with marked phenotypic variability. The most frequent described type is PMM2-CDG (earlier known as CDG Type Ia) which presents either with pure neurologic features or with combined neurologic and systemic features. The classical presentation is characterized by varied combinations of developmental delay, hypotonia, ataxia, dysmorphism, inverted nipples, and abnormal fat distribution. Strokelike episodes and seizures are known acute complications that usually occur on a background of developmental delay, ataxia, or dysmorphism. We report here a developmentally normal young girl who presented with isolated strokelike episodes and was diagnosed to have CDG Type Ia. This condition should be kept in the differentials of unexplained strokelike episodes in children. The diagnosis has important therapeutic and prognostic implications.
先天性糖基化障碍（CDG）是具有显著表型变异性的多系统遗传性代谢障碍。最常见的类型是PMM2 - CDG（以前称为CDG Ia型），其表现为单纯的神经学特征或神经学与全身特征相结合。典型表现的特征是发育迟缓、肌张力减退、共济失调、畸形、乳头内陷和脂肪分布异常的各种组合。类卒中发作和癫痫是已知的急性并发症，通常发生在发育迟缓、共济失调或畸形的背景下。我们在此报告一名发育正常的年轻女孩，她出现孤立性类卒中发作，被诊断为CDG Ia型。这种情况应列入儿童不明原因类卒中发作的鉴别诊断中。该诊断具有重要的治疗和预后意义。
