Diagnosis of Tuberous Sclerosis

Almost 40% of children whose cases were reviewed had signs and symptoms that could have led to earlier diagnosis.

Tuberous sclerosis complex (TSC), an autosomal dominant neurocutaneous disorder with an incidence of 1 in 6000, is characterized by hamartomas in the brain, skin, kidney, and eye. Mutations in the TSC1 and TSC2 tumor-suppressor genes are implicated but are not identifiable in about 15% of patients. Spontaneous mutation is frequent, and phenotypic expression is highly variable. Diagnosis is made clinically, based on the presence of two major features or one major plus two minor features, and it can be difficult, as no sign or symptom is universal or pathognomonic, and features may emerge over time.

To characterize presenting symptoms and signs of TSC and age at diagnosis, and to identify missed early symptoms and signs, these investigators re…

Reviewing Author

Mary Wu Chang, MD

Disclosures

Consultant / Advisory board Pierre Fabre; Valeant

Speaker’s bureauPierre Fabre

Mary Wu Chang, MD

Disclosures

Consultant / Advisory board Pierre Fabre; Valeant

Speaker’s bureauPierre Fabre