Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0205700 (ash)
 15,125 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report a 15-year-old patient with tuberous sclerosis complex or Bourneville's disease with history of generalized tonic-clonic seizure for last 2 years and was currently on antiepileptic medication. He also had a history of left nephrectomy for renal cell carcinoma clear cell type. The patient had multiple adenoma sebaceum over the nasolabial region, ash leaf spots over the lower limbs, a Shagreen patch over the back, and multiple calcified tubers in the subependymal region. He was then referred for the skeletal scintigraphy to look for skeletal lesions, which revealed involvement of bilateral humeri, tibiae, and iliac bones accurately characterized on SPECT/CT.
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PMID:Accurate Characterization of Skeletal Lesions in Tuberous Sclerosis Complex Using 99mTc MDP SPECT/CT. 2609 84