Hallervorden-Spatz syndrome in two siblings diagnosed by the clinical features and magnetic resonance imaging (MRI).
10.3346/jkms.1993.8.5.329
- Author:
Dong Wook KIM
1
;
Yong In CHOI
;
Ki Joong KIM
;
Tae Sung KO
;
Yong Seung HWANG
;
In Won KIM
Author Information
1. Department of Pediatrics and Radiology, Seoul National University Children's Hospital, Yongon-dong, Chongno-gu, Korea.
- Publication Type:Case Reports
- Keywords:
Hallervorden-Spatz syndrome;
Magnetic resonance imaging
- MeSH:
Child;
Female;
Humans;
Magnetic Resonance Imaging;
Male;
Pantothenate Kinase-Associated Neurodegeneration/*diagnosis/genetics
- From:Journal of Korean Medical Science
1993;8(5):329-333
- CountryRepublic of Korea
- Language:English
-
Abstract:
Hallervorden-Spatz syndrome (HSS) is a heredodegenerative disorder characterized by both progressive pyramidal and extrapyramidal signs, dysarthric speech, and mental deterioration. No diagnostic biochemical test is yet available, and diagnosis of HSS can be confirmed only at autopsy by the characteristic neuropathology including abnormal iron storage, disordered myelination, and loss of brain substance. We present two siblings with clinical features consistent with HSS, in whom magnetic resonance imaging (MRI) demonstrated the deposition of iron in the globus pallidus and the substantia nigra thus allowing an antemortem diagnosis of HSS.
