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)

• Kim DW
• Choi YI
• Kim KJ
• Ko TS
• Hwang YS
• Kim IW

• KMID: 1421999
• DOI: http://doi.org/10.3346/jkms.1993.8.5.329

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