Tuberous sclerosis short message
✍️ prevalence of 1/6,000.
✍️ mutations in TSC1 (Chr 9q) or TSC2 (Chr 16p) which code for hamartin and tuberin, respectively.
✍️ AD with variable expressivity
✍️ 50% are from new mutations
✍️ any age group is vulnerable
✅ Tuberous sclerosis Ocular associations
☝️Retinal astrocytoma
• uncommon
• located in the inner layers of the retina or the optic disc, obscuring the retinal vessels.
• Milky grey–white appearance, depending on their amount of calcification .
• composed of spindle-shaped or even pleomorphic retinal astrocytes and can have various amounts of calcification.
• Main DD is Retinoblastoma.
✅ Tuberous sclerosis Systemic associations
☝️ Adenoma sebaceum( butterfly rash)
☝️ Ash leaf spots ( usually on the upper doral )
☝️ Shagreen patches( usually on the lumbosacral )
☝️ Subungual fibromas( toes and fingers)
☝️ Cerebral astrocytomas (with epilepsy and low IQ)
☝️ Visceral hamartomas
• renal angiomyolipoma
• cardiac rhabdomyoma
• Visceral cysts
☝️ Pulmonary lymphangioleiomyomatosis( cystic lung destruction in female (child bearing period)
Tuberous sclerosis power point presentations:
Tuberous sclerosis complex Dr. Amol Lahoti Resident, Dept of Radiodiagnosis & Imaging NKP SIMS & LMH, Nagpur
Group of CNS disorders characterized by • brain malformations or • neoplasms • skin • eye lesions. The term is derived from the Greek root phako, which refers to the lens phakomatosis means -tumor-like condition of the eye (lens) Neurocutaneous Syndromes / Phakomatoses
Neurocutaneous Syndromes • Neurofibromatosis( types 1 and type 2) • Tuberous sclerosis • Sturge-weber syndrome • Ataxia-telangiectasia • Von hippel-lindau disease
Tuberous sclerosis complex (TSC) Bourneville or Bourneville-Pringle disease. Characterised by classic clinical triad (vogt triad) • Facial lesions (“adenoma sebaceum“) • Seizure • Mental retardation.
Clinically: Epilepsy affecting 80 – 90% infantile spasms simple or complex partial seizures EEG +ve in 75 % of patients Cognitive deficits 44 – 65% Autism and behavioral problems
Skin Eyes Brain Heart Lung Kidney Tuberous Sclerosis Complex (TSC) multiple benign hamartomas
GENETICS Autosomal dominant Incidence 1 : 6000 livebirths Mutation in TSC-1 (Hamartin) or TSC-2 (Tuberin) +ve family history in 7 – 40%
Cell Proliferation complex hamartin TSC1 tuberin TSC2 Hamartin-Tuberin complex Central regulator of cell cycle TSC: loss of inhibition to cell cycle
Diagnostic criteria Major Features Identified clinically Facial angiofibromas or forehead plaque Non-traumatic ungual or periungual fibroma Hypomelanotic macules Shagreen patch Multiple retinal nodular hamartomas Cortical tuber Subependymal nodule Subependymal giant cell astrocytoma Cardiac rhabdomyoma Lymphangio- myomatosis Renal angiomyolipoma Identified on imaging
