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[Adult metachromatic leukodystrophy]
1Dept of Neuropatholog in PLA General Hospital Beijing.
Zhonghua Shen Jing Jing Shen Ke Za Zhi = Chinese Journal of Neurology and Psychiatry
|December 1, 1990
Abstract:
An adult case of metachromatic leukodystrophy confirmed by characteristic findings of the brain and superficial sural nerve biopsies, but with absence of deficiency of arylsulfatase A activity in the leucocytes, was reported. Ultrastructurally, typical membrane-bound inclusions were found in white matter and Schwann cells. The long course of thirty years and late onset of illness were discussed.
Insights
This study reports an adult case of metachromatic leukodystrophy with typical pathological findings but normal arylsulfatase A activity. The patient experienced a prolonged, 30-year illness course with late onset.
Area of Science:
- Neurology
- Biochemistry
- Pathology
Background:
- Metachromatic leukodystrophy (MLD) is a rare lysosomal storage disorder typically caused by arylsulfatase A (ARSA) deficiency.
- MLD primarily affects the white matter of the central and peripheral nervous systems.
Observation:
- An adult patient presented with clinical and pathological features consistent with MLD, including characteristic brain and sural nerve biopsy findings.
- Ultrastructural examination revealed typical membrane-bound inclusions in white matter and Schwann cells.
Findings:
- Despite the characteristic MLD pathology, the patient exhibited normal leukocyte arylsulfatase A activity.
- This finding challenges the conventional diagnostic criteria for MLD, suggesting potential alternativePathways or variants.
Implications:
- This case highlights the importance of considering atypical presentations of MLD, especially in adults with prolonged disease courses.
- Further research is needed to elucidate the genetic and biochemical basis of MLD variants with normal ARSA activity.
- Diagnostic approaches for MLD may require revision to encompass cases with discordant biochemical and pathological findings.