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Home > West Medicine > Pediatrics > Pediatric Internal Med
百科

Tuberous sclerosis complex in children

儿科综合

Common symptoms

丘疹、癫痫和癫痫样发作、咖啡斑、面部血管纤维瘤、呼吸困难、咯血、色素沉着与色素减退、心律失常、智力发育迟缓

The pathology of disease

Tuberous sclerosis complex in children is autosomal dominant hamartoma syndrome; seizures; ash-leaf spots; renal angiomyolipoma; subependymal giant cell astrocytoma; mTOR inhibitors; pediatric neurology/genetics.

Symptoms

Seizures; ash-leaf spots; facial angiofibroma; child; developmental; renal angiomyolipoma; TSC1/2

Causes

TSC1/TSC2 mutation; AD; hamartoma; tuberous sclerosis.

Treatment

Treat seizures; mTOR inhibitors; monitor brain/renal; pediatric neurology/genetics/urology

Dept

Pediatric neurology / pediatrics / genetics / pediatric urology.

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