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White matter changes mimicking a leukodystrophy in a patient with Mucopolysaccharidosis: characterization by MRI.

Abstract：

:Mucopolysaccharidosis (MPS) type I (alpha-iduronidase deficiency) is characterized by storage and massive urinary excretion of dermatan sulfate and heparan sulfate; it may be distinguished into three different subtypes based on age at onset and severity of the clinical symptoms. We report on progressive white matter involvement documented by serial MR imaging in a patient with the MPS type I, severe skeletal involvement and preserved mental capabilities (intermediate phenotype or Hurler/Scheie syndrome).The natural history of white matter abnormalities in patients with MPS is still unclear; based on the present study, it appears that degenerative changes of the white matter mimicking a leukodystrophy may mark the course of MPS type I. We also suggest that the degree of MR changes in patients with MPS does not always reflect their neurological impairment.

journal_name

J Neurol Sci

journal_title

Journal of the neurological sciences

authors

Barone R,Parano E,Trifiletti RR,Fiumara A,Pavone P

doi

10.1016/s0022-510x(02)00014-x

subject

Has Abstract

pub_date

2002-03-30 00:00:00

pages

171-5

issue

2

eissn

0022-510X

issn

1878-5883

pii

S0022510X0200014X

journal_volume

195

pub_type

杂志文章

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