"hepatic angiomyolipoma(s)"
"John James Pringle (1855-1922) was a Scottish dermatologist who also studied this disease, leading some books to refer to it as "Bourneville-Pringle disease” 17."
"Heinrich Vogt (1875-1957) was a German neurologist who is notable for establishing that the simultaneous presence of three clinical signs was pathognomonic for tuberous sclerosis complex; this became known as "Vogt triad” 18."
"Tuberous sclerosis complex (TSC), also known as tuberous sclerosis (TS) or Bourneville disease, is a phakomatosis (neurocutaneous disorder) characterised by the development of multiple benign tumours of the embryonic ectoderm (e.g. skin, eyes, and central nervous system)."
"Treatment of seizures is essential and depending on the degree of intellectual disability, supportive care may be required. Treatment will be dictated by individual manifestations (e.g. subependymal giant cell astrocytomas, or retroperitoneal haemorrhage from renal angiomyolipoma)."
"TSC1: encoding hamartin, on chromosome 9q34"
"TSC2: encoding tuberin, on chromosome 16p13 (accounts for most cases)"
"A mnemonic to remember these manifestations is HAMARTOMAS."
"Chiari malformations"
Expected headings
"Neurological"
"Thoracic"
"Abdominal"
"Musculoskeletal"
"Skin"
"Tuberous sclerosis complex (TSC), also known as tuberous sclerosis (TS) or Bourneville disease, is a phakomatosis (neurocutaneous disorder) characterised by the development of multiple benign tumours of the embryonic ectoderm (e.g. skin, eyes, and central nervous system)."
"Tuberous sclerosis complex (TSC), also known as tuberous sclerosis (TS) or Bourneville disease, is a phakomatosis (neurocutaneous disorder) characterised by the development of multiple benign tumours of the embryonic ectoderm (e.g. skin, eyes, and central nervous system)."
"Treatment of seizures is essential and depending on the degree of intellectual disability, supportive care may be required. Treatment will be dictated by individual manifestations (e.g. subependymal giant cell astrocytomas, or retroperitoneal haemorrhage from renal angiomyolipoma)."
"enhancement is variable and is not a useful feature in distinguishing them from subependymal giant cell astrocytomas (SGCA); only serial growth is reliable 5,6"
"have been detected as early as 15 weeks gestation and grow through pregnancy; common, seen in up to 80% of affected individuals 24"
"facial angiofibromas (Pringle nodules or adenoma sebaceum); seen in 75% of patients"
"Heinrich Vogt (1875-1957) was a German neurologist who is notable for establishing that the simultaneous presence of three clinical signs was pathognomonic for tuberous sclerosis complex; this became known as "Vogt triad” 18."
"variable appearance, with nodular, ill-defined, cystic and band-like lesions seen"