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Home > West Medicine > Surgery > General Surgery

Classroom classification

百科

Tuberous sclerosis

普外科

Common symptoms

丘疹、视网膜出血、视神经萎缩

The pathology of disease

Tuberous sclerosis complex is autosomal dominant neurocutaneous syndrome; cortical tubers; ash-leaf spots; seizures; angiomyolipoma; subependymal giant cell astrocytoma.

Symptoms

Seizures; ash-leaf/hypomelanotic spots; shagreen patch; facial angiofibroma; developmental delay; renal angiomyolipoma

Causes

TSC1/TSC2 mutation; autosomal dominant; mTOR pathway.

Treatment

Anticonvulsants; mTOR inhibitors; surveillance renal/CNS; treat complications

Dept

Neurology / genetics / dermatology / nephrology.

Warm reminder: Health education reference only; seek care at regular hospital.

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