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Intracranial calcification and seizures: a case of central neurofibromatosis
A Clarke1, W Church, D Gardner-Medwin
1Department of Human Genetics, University of Newcastle upon Tyne.
Developmental Medicine and Child Neurology
|August 1, 1990
Insights
Central neurofibromatosis is a rare condition that can cause intracranial calcification and seizures in children. This diagnosis should be considered in the differential diagnosis of pediatric patients presenting with these symptoms.
Area of Science:
- Neurology
- Pediatrics
- Medical Genetics
Background:
- Intracranial calcification in children can be associated with various neurological disorders.
- Tuberous sclerosis is a common consideration for pediatric intracranial calcification and seizures.
Observation:
- An eight-year-old boy presented with periventricular calcification and seizures.
- The patient and his mother were diagnosed with central neurofibromatosis.
Findings:
- Central neurofibromatosis can manifest with intracranial calcifications.
- Seizures are a potential symptom of central neurofibromatosis.
Implications:
- Central neurofibromatosis should be included in the differential diagnosis for pediatric patients with intracranial calcification and seizures.
- This case highlights the importance of considering rare genetic conditions in pediatric neurology.
Abstract:
Periventricular calcification was found in an eight-year-old boy with seizures. The diagnosis of tuberous sclerosis was considered, but (like his mother) he has central neurofibromatosis. This condition must be considered in the differential diagnosis of children with intracranial calcification and seizures.