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

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• 作者：Barone ; Rita ; Parano ; Enrico ; Trifiletti ; Rosario Rich ; Fiumara ; Agata ; Pavone ; Piero
• 关键词：White matter changes ; Leukodystrophy ; Mucopolysaccharidosis
• 刊名：Journal of the Neurological Sciences
• 出版年：2002
• 出版时间：March 30, 2002
• 年：2002
• 卷：195
• 期：2
• 页码：171-175
• 全文大小：203 K

文摘

Mucopolysaccharidosis (MPS) type I (α-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).