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Tuberous sclerosis with increasing calcification in the brain during a 15-month period: a case report
Insights
This study details a child with tuberous sclerosis experiencing rapid brain calcification. Early infantile spasms and skin findings were noted alongside progressive computed tomography changes.
Area of Science:
- Neurology
- Genetics
- Radiology
Background:
- Tuberous sclerosis is a genetic disorder affecting multiple organs, including the brain.
- Early diagnosis and monitoring are crucial for managing neurological complications.
- Family history revealed a pattern of skin lesions and potential genetic predisposition.
Observation:
- A 2-month-old infant presented with a congenital skin lesion (white spot).
- The patient exhibited infantile spasms shortly after birth.
- A family history of similar skin lesions and sebaceous adenomas was documented.
Findings:
- Brain computed tomography (CT) revealed a subtle increase in density in the right occipital lobe at 3 months.
- Progressive calcification was observed in the same region over a 15-month period, with CT numbers exceeding 60.
- The observed calcification correlated with the patient's diagnosis of tuberous sclerosis.
Implications:
- Highlights the importance of serial neuroimaging in infants with tuberous sclerosis.
- Suggests a potential correlation between infantile spasms, skin findings, and rapid brain calcification.
- Underscores the need for comprehensive evaluation and management strategies for pediatric neurological disorders.
Abstract:
We report here a patient with tuberous sclerosis who, over a 15-month period, had markedly increasing brain calcification on CT (computed tomography). When first seen, the 2-month-old boy had a white spot on the right thigh. His mother, maternal uncles, grandfather and great-grandfather had not only white spot but also sebaceous adenoma. Infantile spasms were noted 2 days after birth. His first brain CT at 3 months of age showed a slightly higher than normal density area in the right occipital lobe. Subsequent CT scans at 6 and 18 months of age revealed progressively increasing density in this area (CT number above 60).