Serial neurophysiological studies and magnetic resonance imaging in late-infantile metachromatic leukodystrophy

被引：0

作者：

Zafeiriou, DI ^{[1
]}

Kontopoulos, E ^{[1
]}

Michelakaki, E ^{[1
]}

Anastasiou, A ^{[1
]}

Gombakis, N ^{[1
]}

Katzos, G ^{[1
]}

机构：

[1] Aristotelian Univ Salonika, Pediat Clin 1, GR-54006 Salonika, Greece

来源：

NEW DEVELOPMENTS IN CHILD NEUROLOGY | 1998年

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D O I：

暂无

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We present serial clinical, radiological and neurophysiological findings of a patient with late-infantile metachromatic leukodystrophy (MLD), who was first admitted to the hospital at the age of 30 months, because of gait disturbance; neurologically he showed the picture of a mild spastic diplegia. Magnetic resonance imaging (MRI) disclosed diffuse high intensity in the cerebral white matter on Til-weighted images. Nerve conduction velocities and evoked potential studies were markedly abnormal. Assay of arylsulfatase A activity in leukocyte culture disclosed a marked deficiency of the enzyme, thus confirming the diagnosis of late-infantile MLD. Serial neurophysiological and MRI studies demonstrated the progressive nature of the disorder, correlating with the clinical deterioration (spastic tetraplegia with optic atrophy and epilepsy).

引用

页码：111 / 115

页数：5