Hallervorden-Spatz syndrome in two siblings diagnosed by the clinical features and magnetic resonance imaging (MRI).
نویسندگان
چکیده
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.
منابع مشابه
Pantothenate kinase 2 mutation with eye-of-the-tiger sign on magnetic resonance imaging in three siblings
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ورودعنوان ژورنال:
- Journal of Korean Medical Science
دوره 8 شماره
صفحات -
تاریخ انتشار 1993