Unusual Presentation of PMM2

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