Two Siblings with Adolescent/Adult Onset Niemann-Pick Disease Type C in Korea
Journal of Korean Medical Science
;
: 1168-1172, 2016.
Artículo
en Inglés
| 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:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Trastornos Psicóticos
/
Análisis Mutacional de ADN
/
Glicoproteínas de Membrana
/
Proteínas Portadoras
/
Tomografía Computarizada por Rayos X
/
Exones
/
Trastornos Neurológicos de la Marcha
/
Hermanos
/
Pueblo Asiatico
/
Abdomen
Límite:
Femenino
/
Humanos
/
Masculino
País/Región como asunto:
Asia
Idioma:
Inglés
Revista:
Journal of Korean Medical Science
Año:
2016
Tipo del documento:
Artículo
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