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Updated: Aug 9, 2026
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Published on: May 18, 2010
[Metachromatic leukodystrophy. Late juvenile form. Review of 6 cases]
Insights
Late infantile metachromatic leukodystrophy presents with behavioral changes and walking issues around 18 months. Diagnosis involves nerve conduction studies, sural nerve biopsy, or arylsulfatase A enzyme tests.
Area of Science:
- Neuroscience
- Genetics
- Biochemistry
Context:
- Late infantile metachromatic leukodystrophy (MLD) is a rare, inherited lysosomal storage disorder.
- It affects the central and peripheral nervous systems due to arylsulfatase A deficiency.
- Early diagnosis is crucial for potential therapeutic interventions.
Purpose:
- To present six cases of late infantile MLD.
- To describe the initial clinical manifestations and diagnostic findings.
- To highlight diagnostic methods and carrier detection strategies.
Summary:
- Six patients with late infantile MLD exhibited early symptoms around 18 months, including behavioral changes and gait disturbances.
- Consistent findings included slowed nerve conduction velocities; CSF protein levels were normal in two cases.
- Diagnosis was confirmed via sural nerve biopsy or leukocyte arylsulfatase A assays, with carrier detection studies in affected families.
Impact:
- Contributes to understanding the clinical spectrum and diagnostic markers of late infantile MLD.
- Emphasizes the utility of enzymatic and histopathological methods for definitive diagnosis.
- Provides data for future research on carrier screening and potential treatments for MLD.
Abstract:
Six cases of late infantile metachromatic leucodystrophy are presented. Behavioral changes and walking disturbances are the initial symptoms which tend to occur around 18 months of age. Slowing of nerve velocity conductions is a constant finding. Two out of six observations had normal CSF protein levels throughout their disease. Diagnosis was confirmed by sural nerve biopsy in two cases and by leucocyte arylsulfatase A measurement in the four remaining patients. Studies for carrier detection were performed in 4 of the 5 affected families.
