Two Siblings with Adolescent/Adult Onset Niemann-Pick Disease Type C in Korea
Journal of Korean Medical Science
;
: 1168-1172, 2016.
Article
Dans Anglais
| 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.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Troubles psychotiques
/
Analyse de mutations d'ADN
/
Glycoprotéines membranaires
/
Protéines de transport
/
Tomodensitométrie
/
Exons
/
Troubles neurologiques de la marche
/
Fratrie
/
Asiatiques
/
Abdomen
Limites du sujet:
Femelle
/
Humains
/
Mâle
Pays comme sujet:
Asie
langue:
Anglais
Texte intégral:
Journal of Korean Medical Science
Année:
2016
Type:
Article
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