Two Siblings with Adolescent/Adult Onset Niemann-Pick Disease

J. Korean Med. Sci. · Jul 2016

Case Reports

Two Siblings with Adolescent/Adult Onset Niemann-Pick Disease Type C in Korea.

Niemann-Pick disease, type C (NP-C), is caused by NPC1 or NPC2 gene mutations. Progressive neurological, psychiatric, and visceral symptoms are characteristic. Here, we present cases of a brother (Case 1) and sister (Case 2) in their mid-20s with gait disturbance and psychosis. ⋯ NPC1 gene sequencing revealed compound heterozygote for exon 9 (c.1552C>T [R518W]) and exon 18 (c.2780C>T [A927V]). Filipin-staining tests were also positive. When a young patient with ataxia or dystonia shows VSGP, NP-C should be considered.

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- Su-Yun Lee, Hyung Jin Lee, Seong Hwan Kim, Young Jin Jeong, Hee Kyung Jin, Jae-Sung Bae, Sang-Myung Cheon, and Jae Woo Kim.
- Department of Neurology, Dong-A University College of Medicine, Busan, Korea .
- J. Korean Med. Sci. 2016 Jul 1; 31 (7): 116811721168-72.
AbstractNiemann-Pick disease, type C (NP-C), is caused by NPC1 or NPC2 gene mutations. Progressive neurological, psychiatric, and visceral symptoms are characteristic. Here, we present cases of a brother (Case 1) and sister (Case 2) in their mid-20s with gait disturbance and psychosis. For the Case 1, neurological examination revealed dystonia, ataxia, vertical supranuclear-gaze palsy (VSGP), and global cognitive impairment. Case 2 showed milder, but similar symptoms, with cortical atrophy. Abdominal computed tomography showed hepatosplenomegaly in both cases. NPC1 gene sequencing revealed compound heterozygote for exon 9 (c.1552C>T [R518W]) and exon 18 (c.2780C>T [A927V]). Filipin-staining tests were also positive. When a young patient with ataxia or dystonia shows VSGP, NP-C should be considered.

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Two Siblings with Adolescent/Adult Onset Niemann-Pick Disease Type C in Korea.

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