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Niemann-Pick Disease Type C Misdiagnosed as Cerebral Palsy: A Case Report
Annals of Rehabilitation Medicine ; : 621-624, 2019.
Artículo en Inglés | WPRIM | ID: wpr-762661
ABSTRACT
Niemann-Pick disease type C (NP-C) is a rare autosomal recessive neurovisceral lysosomal lipid storage disorder. The clinical manifestations of the disorder are variable. This report describes the case of a 27-month-old girl with NP-C whose condition had been misdiagnosed as spastic cerebral palsy (CP). She had spasticity, particularly at both ankles, and gait disturbance. Magnetic resonance imaging of the brain revealed findings suspicious of sequelae from a previous insult, such as periventricular leukomalacia, leading to the diagnosis of CP. However, she had a history of hepatosplenomegaly when she was a fetus and her motor development had deteriorated, with symptoms of vertical supranuclear gaze palsy, cataplexy, and ataxia developing gradually. Therefore, NP-C was considered and confirmed with a genetic study, which showed mutation of the NPC1 gene. Thus, if a child with CP-like symptoms presents with a deteriorating course and NP-C-specific symptoms, NP-C should be cautiously considered.
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Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Asunto principal: Parálisis / Ataxia / Leucomalacia Periventricular / Encéfalo / Imagen por Resonancia Magnética / Cataplejía / Parálisis Cerebral / Enfermedades de Niemann-Pick / Diagnóstico / Feto Tipo de estudio: Estudio diagnóstico Límite: Niño / Child, preschool / Femenino / Humanos / Recién Nacido Idioma: Inglés Revista: Annals of Rehabilitation Medicine Año: 2019 Tipo del documento: Artículo

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Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Asunto principal: Parálisis / Ataxia / Leucomalacia Periventricular / Encéfalo / Imagen por Resonancia Magnética / Cataplejía / Parálisis Cerebral / Enfermedades de Niemann-Pick / Diagnóstico / Feto Tipo de estudio: Estudio diagnóstico Límite: Niño / Child, preschool / Femenino / Humanos / Recién Nacido Idioma: Inglés Revista: Annals of Rehabilitation Medicine Año: 2019 Tipo del documento: Artículo