Ann Rehabil Med.  2019 Oct;43(5):621-624. 10.5535/arm.2019.43.5.621.

Niemann-Pick Disease Type C Misdiagnosed as Cerebral Palsy: A Case Report

• Ko EJ
• Sung IY
• Yoo HW

• KMID: 2463709
• DOI: http://doi.org/10.5535/arm.2019.43.5.621

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.

Keyword

Cerebral palsy; Niemann-Pick disease type C; Muscle spasticity

MeSH Terms

Ankle
Ataxia
Brain
Cataplexy
Cerebral Palsy*
Child
Child, Preschool
Diagnosis
Female
Fetus
Gait
Humans
Infant, Newborn
Leukomalacia, Periventricular
Magnetic Resonance Imaging
Muscle Spasticity
Niemann-Pick Diseases*
Paralysis

Figure

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  Fig. 1. Brain magnetic resonance image showing (A) mild bilateral T2/fluid-attenuated inversion recovery hyperintensities in the peritrigonal periventricular white matter and (B) mild thinning of the corpus callosum with features suspicious of mild hypoplastic splenium.

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