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Metachromatic leukodystrophy manifesting as a schizophrenic disorder: computed tomographic correlation
Annals of Neurology
|July 1, 1985
Summary
This study describes a rare case of adult-onset metachromatic leukodystrophy presenting with schizophrenia-like psychiatric symptoms. Brain imaging revealed characteristic hypodensities, confirmed by diagnostic assays.
Area of Science:
- Neuroscience
- Genetics
- Radiology
Background:
- Metachromatic leukodystrophy (MLD) is a rare lysosomal storage disorder.
- Typically presents in childhood, but adult-onset forms exist.
- Psychiatric symptoms can be the primary manifestation in adult MLD.
Observation:
- A 32-year-old woman with a 12-year history of schizophrenia-like symptoms.
- Computed tomography (CT) scan showed symmetrical bifrontal and biparietal periventricular hypodensities.
- Sural nerve biopsy, urine, and leukocyte enzyme assays were performed.
Findings:
- Diagnosis of metachromatic leukodystrophy (MLD) was confirmed.
- The observed hypodensities on CT are consistent with MLD.
- Enzyme assays indicated deficient arylsulfatase A activity.
Implications:
- Highlights the importance of considering MLD in adults with unexplained psychiatric disorders.
- Demonstrates the utility of neuroimaging in diagnosing metabolic leukodystrophies.
- Emphasizes the varied clinical presentations of metachromatic leukodystrophy.