Pathophysiology
characterized by hamartomas of the retina, brain, and viscera
Signs and Symptoms
1) glial tumors 2) subependymal nodules 3) rhabdomyomas of the heart 4) angiomyolipoma of the heart and kidneys, bilateral kidney cysts 5) astrocytic hamartomas of the retina 6) angiofibromas of the face 7) connective tissue nevi (shagreen patches) 8) “ash leaf” hypopigmented spots on the skin 9) seizures 10) mental retardation 11) bone lesions
Histology/Gross Pathology
1) cortical tubors – growths of strikingly atypical cells with both neuronal and glial features 2) subependymal giant cell tumors with pleomorphic cells resembling glia and neurons
Associated Conditions
1) pancreatic endocrine tumors (insulinoma, gastrinoma) 2) hydrocephalus from obstructed ventricles owing to subependymal nodules
Biochemistry
1) disease involves arrested maturation of neuroectoderm 2) associated with mutations for protein hematin and tuberin 3) interruption of cystolic G protein regulation
Inheritance/Epidemiology
1) autosomal dominant but with variable penetrance 2) involved genes are TSC1 on chromosome 9 (9q34) and TSC2 on chromosome 16 (16p13)
Treatment
1) anticonvulsants 2) shunting for hydrocephalus
Tips for USMLE
1) grossly hamartomas/subependymal masses look like “candle drippings” 2) if question mentions ash leaf spots, think tuberous sclerosis 3) if question mentions a forehead lesion, think tuberous sclerosis
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