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Late-onset metachromatic leukodystrophy: diagnostic problems elucidated by a case report
Journal of Neurology
|January 1, 1981
Summary
Late-onset metachromatic leukodystrophy can present with psychiatric symptoms mimicking organic brain disease. Early screening is crucial for patients with unexplained dementia or hebephrenia to ensure timely diagnosis and intervention.
Area of Science:
- Neurology
- Metabolic Disorders
- Genetics
Background:
- Late-onset metachromatic leukodystrophy (MLD) is a rare lysosomal storage disease.
- It results from arylsulfatase A deficiency, leading to sulfatide accumulation.
- Typically presents with progressive neurological decline.
Observation:
- A 20-year-old female exhibited psychiatric symptoms suggestive of organic brain disease for five years.
- She lacked overt clinical or neurophysiological signs of polyneuropathy.
- This presentation complicated the initial diagnosis.
Findings:
- Diagnosis of late-onset MLD was confirmed through biochemical and pathological analyses.
- Severely reduced arylsulfatase A activity was detected in urine and leukocytes.
- Marked urinary sulfatide excretion and lysosomal residual bodies in sural nerve biopsy confirmed MLD.
Implications:
- This case highlights the importance of considering MLD in young adults with atypical psychiatric presentations.
- Screening for MLD should be considered in cases of early-onset dementia or hebephrenia of unknown etiology.
- Timely diagnosis can prevent irreversible neurological damage and improve patient outcomes.