How broad is the phenotype of Hallervorden-Spatz disease?

Abstract:

:Magnetic resonance imaging (MRI) has enabled ante mortem diagnosis of Hallervorden Spatz disease (HSD). Childhood-onset cases are the most common type and usually present with progressive dystonia and dementia. The duration of illness is 15 to 20 years, leading to death. Presentation in adulthood and infancy have also been reported, however again the progression is usually inexorable. We present a 30-year-old woman who developed cognitive and motor developmental delay from the age of 8 months. There was further cognitive decline in her late teenage years with seizures and then more recent motor decline with dystonia. The imaging appearance was of iron deposition in the globus pallidus and substantia nigra leading to a diagnosis of HSD. The increased availability of MRI has allowed more cases of HSD to be diagnosed in life but as our case illustrates classification of the disease may need to be further examined.

journal_name

Acta Neurol Scand

authors

Hickman SJ,Ward NS,Surtees RA,Stevens JM,Farmer SF

doi

10.1034/j.1600-0404.2001.103003201.x

subject

Has Abstract

pub_date

2001-03-01 00:00:00

pages

201-3

issue

3

eissn

0001-6314

issn

1600-0404

pii

ane303

journal_volume

103

pub_type

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