A case of tuberous sclerosis with calcification of angiomatous change in the white matter
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This case study highlights tuberous sclerosis in a child presenting with infantile spasms and seizures. Pathological findings confirmed the diagnosis, linking brain calcifications to the condition.
Area of Science:
- Neurology
- Pediatric Neurology
- Neuro-oncology
Background:
- Tuberous sclerosis is a genetic disorder causing tumors to grow in various organs, including the brain.
- Infantile spasms are a severe form of epilepsy in infants, often associated with neurological disorders.
- Adenoma sebaceum is a characteristic skin manifestation of tuberous sclerosis.
Observation:
- A 5-year-old Japanese boy presented with a history of infantile spasms, intractable seizures, and adenoma sebaceum.
- Imaging revealed prominent tramtrack-like calcification in the left occipital pole.
- Neurosurgical resection of the left occipital focus was performed.
Findings:
- Pathological examination showed patchy glial fiber nets on the cortical surface.
- Scattered dysgenetic giant cells were observed in both the cortex and white matter.
- Calcified angiomatosis was identified in the white matter, consistent with tuberous sclerosis.
Implications:
- This case reinforces the association between specific neuropathological findings and tuberous sclerosis.
- Early diagnosis and surgical intervention for focal epilepsy in tuberous sclerosis are crucial.
- Understanding these histopathological features aids in diagnosing and managing pediatric neurological disorders.
Abstract:
A 5-year-old Japanese boy had had infantile spasms at 5 months of age, and had intractable seizures, adenoma sebaceum and prominent tramtrack-like calcification in the left occipital pole at five years. A neurosurgical operation was performed for the resection of the left occipital focus. Pathological examination showed patchy glial fiber nets on the cortical surface, scattered dysgenetic giant cells both in the cortex and white matter, and calcified angiomatosis in the white matter. These findings correspond to those of tuberous sclerosis and calcified angiomatosis in the white matter.