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KMID : 0191120160310071168
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Journal of Korean Medical Science
2016 Volume.31 No. 7 p.1168 ~ p.1172
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Two Siblings with Adolescent/Adult Onset Niemann-Pick Disease Type C in Korea
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Lee Su-Yun
Lee Hyung-Jin
Kim Seong-Hwan
Jeong Young-Jin
Jin Hee-Kyung
Bae Jae-Sung
Cheon Sang-Myung
Kim Jae-Woo
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Abstract
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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. 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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KEYWORD
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Niemann-Pick Disease, Type C, Dystonia, Ataxia, Oculomotor Paralysis, Psychosis, Hepatosplenomegaly
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