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

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.

journal_name

J Korean Med Sci

authors

Kim DW,Choi Y,Kim KJ,Ko TS,Hwang YS,Kim IW

doi

10.3346/jkms.1993.8.5.329

subject

Has Abstract

pub_date

1993-10-01 00:00:00

pages

329-33

issue

5

eissn

1011-8934

issn

1598-6357

journal_volume

8

pub_type

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