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The disease is rarely reported and the characterized manifestation is severe polycystic kidney growth. The diagnosis can be made by molecular analysis. We report the first case of PKDTS discovered in infancy in China with typical neurological and renal manifestations. The patient has infantile spasm, polycystic kidney, skin damage, hypertension, and hematuria after infection. After effective treatment of Rapamycin, the seizures were completely controlled. There was not been any renal function damage in the patient. At the same time, we review the related literature and further elaborate on the variety of clinical manifestations, treatment, and prognosis.<\/jats:p>","DOI":"10.1002\/jdn.10088","type":"journal-article","created":{"date-parts":[[2021,1,15]],"date-time":"2021-01-15T00:58:28Z","timestamp":1610672308000},"page":"191-199","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["A case of <i>TSC2\u2010PKD1<\/i> contiguous deletion syndrome: Clinical features and effective treatment for epilepsy"],"prefix":"10.1002","volume":"81","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4868-554X","authenticated-orcid":false,"given":"Xiaoyu","family":"Pan","sequence":"first","affiliation":[{"name":"Pediatric Department the Affiliated Hospital of Qingdao University Shandong P.R. 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