Two Siblings with Adolescent/Adult Onset Niemann-Pick Disease Type C in Korea
Journal of Korean Medical Science
;
: 1168-1172, 2016.
Artigo
em Inglês
| WPRIM
| ID: wpr-73248
ABSTRACT
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Transtornos Psicóticos
/
Análise Mutacional de DNA
/
Glicoproteínas de Membrana
/
Proteínas de Transporte
/
Tomografia Computadorizada por Raios X
/
Éxons
/
Transtornos Neurológicos da Marcha
/
Irmãos
/
Povo Asiático
/
Abdome
Limite:
Feminino
/
Humanos
/
Masculino
País/Região como assunto:
Ásia
Idioma:
Inglês
Revista:
Journal of Korean Medical Science
Ano de publicação:
2016
Tipo de documento:
Artigo
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