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[Tuberous sclerosis without mental impairment, diagnosed in adulthood]
L Timotin1, F Sarrot-Reynauld, S Lantuejoul
1Département pluridisciplinaire de médecine, médecine interne, CHU de Grenoble, BP 217, 38043 Grenoble cedex 09, France.
La Revue De Medecine Interne
|June 7, 2005
Summary
Tuberous Sclerosis Complex (TSC) can occur without a family history due to de novo mutations. This condition shows significant variability, with facial angiofibromas suggesting TSC and warranting brain imaging.
Area of Science:
- Genetics
- Neurology
- Dermatology
Background:
- Tuberous Sclerosis Complex (TSC) is an autosomal dominant disorder.
- Characterized by tumors in the skin and nervous system.
- Typically diagnosed in childhood, often leading to epilepsy and intellectual disability.
Observation:
- A 33-year-old male presented with TSC.
- No prior family history of phakomatosis.
- Manifestations included facial angiofibromas, hypomelanotic macules, a giant-cell astrocytoma, and retinal phakomas.
Findings:
- The patient had no mental impairment or epilepsy.
- De novo mutations are a frequent cause of TSC.
- Phenotypic variability allows for adult diagnosis.
Implications:
- Facial angiofibromas are highly indicative of TSC.
- Brain imaging is recommended for suspected TSC to detect neurological tumors.
- Tumor burden correlates with seizure risk and cognitive impairment severity.