Niemann-Pick Disease Type C Misdiagnosed as Cerebral Palsy: A Case Report
Annals of Rehabilitation Medicine
; : 621-624, 2019.
Article
in En
| WPRIM
| ID: wpr-762661
Responsible library:
WPRO
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.
Key words
Full text:
1
Index:
WPRIM
Main subject:
Paralysis
/
Ataxia
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Leukomalacia, Periventricular
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Brain
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Magnetic Resonance Imaging
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Cataplexy
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Cerebral Palsy
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Niemann-Pick Diseases
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Diagnosis
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Fetus
Type of study:
Diagnostic_studies
Limits:
Child
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Child, preschool
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Female
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Humans
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Newborn
Language:
En
Journal:
Annals of Rehabilitation Medicine
Year:
2019
Type:
Article