Tuberous sclerosis: The incidence of sporadic cases versus familial cases

Genetic aspects of tuberous sclerosis in the west of Scotland.

“…The overall prevalence of tuberous sclerosis found in this study was 1 in 27 000, slightly higher than previous estimates based on large numbers of cases ( 16 Estimates of the prevalence of TS will inevitably be underestimates beause of the occurrence of minimally affected cases who may not come to medical attention. We often ascertained mildly affected subjects through more severely affected descendants.…”

Anaesthetic management of children with tuberous sclerosis

“…The most common findings in TS include skin lesions (96–100%), subependymal nodules (90%), seizures (84–100%), retinal hamartomas (47%), mental retardation (45–70%) (4) and cardiac rhabdomyoma (30–50%) (6,12,14–16). The majority of young patients (particularly infants) with TS are brought to the physician's attention because of seizures (4). The diagnosis of TS is based on the presence of two or more of pathognomonic signs (4,6).…”

“…The majority of young patients (particularly infants) with TS are brought to the physician's attention because of seizures (4). The diagnosis of TS is based on the presence of two or more of pathognomonic signs (4,6). Cerebral tumours were present in 71% of our patients.…”

“…Tuberous sclerosis (TS) is a genetic hamartomatous disease with a prevalence varying from 1 : 9400 to 1 : 170 000 (1–4). It is a systemic disease that primarily presents with cutaneous and neurological symptoms, but cardiac and renal lesions also occur and can affect the conduct of anaesthesia (5,6).…”

Intrafamilial Phenotypic Variability in Tuberous Sclerosis Complex

“…[35][36][37][38] More recently, 3 studies have reported phenotypes in multigenerational families, but with unusually mild phenotypes that included several asymptomatic individuals, due to 3 different missense mutations in TSC2. [39][40][41] The cases reported here, in contrast, demonstrate a wide range of neurological, cognitive, and physical symptoms.…”