J Korean Med Sci.  1993 Oct;8(5):329-333. 10.3346/jkms.1993.8.5.329.

Hallervorden-Spatz syndrome in two siblings diagnosed by the clinical features and magnetic resonance imaging (MRI)

Affiliations
  • 1Department of Pediatrics and Radiology, Seoul National University Children's Hospital, Yongon-dong, Chongno-gu, Korea.

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.

Keyword

Hallervorden-Spatz syndrome; Magnetic resonance imaging

MeSH Terms

Child
Female
Humans
Magnetic Resonance Imaging
Male
Pantothenate Kinase-Associated Neurodegeneration/*diagnosis/genetics
Full Text Links
  • JKMS
Actions
Cited
CITED
export Copy
Close
Share
  • Twitter
  • Facebook
Similar articles
Copyright © 2024 by Korean Association of Medical Journal Editors. All rights reserved.     E-mail: koreamed@kamje.or.kr