Case of the Week
Section Editors: Matylda Machnowska1 and Anvita Pauranik2
1University of Toronto, Toronto, Ontario, Canada
2BC Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada
Sign up to receive an email alert when a new Case of the Week is posted.
February 4, 2008
Tuberous Sclerosis
- Due to deletions/mutations in chromosomes 9q34 (encodes for hamartin) and 16p13.3 (encodes for tuberin)
- General incidence: 1:6000 live births
- About 80% of patients have seizures; more than 50% are mentally handicapped.
- Cerebral hamartomas are most characteristic lesion; about 50% of them calcify; 15% percent of patients also have them in the cerebellum (their appearance varies according to age of patient and maturity of brain).
- Subependymal hamartomas are also typical, and those in the foramina of Monro tend to become giant cell astrocyotmas.
- DTI reveals abnormal FA and MD beyond areas of MRI abnormalities implying lesions are more extensive than previously believed.
Current Issue
Case Collections
