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.
Citations
Citations to this article as recorded by
Clinical Characteristics Suggestive of a Genetic Cause in Cerebral Palsy: A Systematic Review Anna M. Janzing, Erik Eklund, Tom J. De Koning, Hendriekje Eggink Pediatric Neurology.2024; 153: 144. CrossRef
Brain imaging in children with neonatal cholestatic liver disease: A systematic review Thora Wesenberg Helt, Lars Søndergaard Johansen, Daniel Faurholt‐Jepsen, Vibeke Andrée Larsen, Lise Borgwardt, Jann Mortensen, Vibeke Brix Christensen Acta Paediatrica.2024; 113(6): 1168. CrossRef
How is cerebral palsy different from other childhood neurological disorders? Mercedes Cabezas-López Journal of Pediatric Neuropsychology.2023; 9(2): 64. CrossRef
Niemann-Pick Disease Type C Diagnosed Using Neonatal Cholestasis Gene Panel Sun Woo Park, Ji Hong Park, Hye Jeong Moon, Minsoo Shin, Jin Soo Moon, Jae Sung Ko The Korean Journal of Gastroenterology.2021; 78(4): 240. CrossRef
First
Prev
