Tuberous Sclerosis
Subject
Subject Source: Medical Subject Headings
Scope Note: Notes = Autosomal dominant neurocutaneous syndrome classically characterized by MENTAL RETARDATION; EPILEPSY; and skin lesions (e.g., adenoma sebaceum and hypomelanotic macules). There is, however, considerable heterogeneity in the neurologic manifestations. It is also associated with cortical tuber and HAMARTOMAS formation throughout the body, especially the heart, kidneys, and eyes. Mutations in two loci TSC1 and TSC2 that encode hamartin and tuberin, respectively, are associated with the disease.,Created For = LHSA-Dott
Found in 31 Collections and/or Records:
PR2.20618, 1959
Item
Identifier: LHB1 CC/24/PR2.20618
Scope and Contents
Autopsy report, correspondence, notes, reports and charts relating to female patient from Edinburgh and the Lothians aged 2 at first examination in 1959. Conditions mentioned include: diffuse cerebral sclerosis (Schilder's disease or Wilson's disease); walking difficulty; talking difficulty; and headache. No treatment given. Patient discharged.
Dates:
1959