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失眠、胸部丘疹、丘疹、癫痫和癫痫样发作、视神经萎缩、智能减退、精神障碍、视网膜出血
Tuberous sclerosis is autosomal dominant hamartoma syndrome; seizures/adenoma sebaceum/mental retardation; brain/renal/cardiac rhabdomyoma.
Seizures; adenoma sebaceum; ash-leaf spots; subependymal nodules; renal angiomyolipoma; mental retardation
TSC1/TSC2 mutation; autosomal dominant.
Anticonvulsants; mTOR inhibitors; surgery if needed
Genetic counseling.
It is recommended to visit the neurology department; before the visit you may first book an appointment and connect with experts through this platform.
Warm reminder: The above information is provided for health education reference only and cannot replace professional medical diagnosis. If you have related symptoms, please seek care at a regular hospital in time.
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