A case of TSC2‐PKD1 Contiguous Deletion Syndrome: Clinical features and effective treatment for epilepsy,International Journal of Developmental Neuroscience

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A case of TSC2‐PKD1 Contiguous Deletion Syndrome: Clinical features and effective treatment for epilepsy
International Journal of Developmental Neuroscience ( IF 1.7 ) Pub Date : 2021-01-25 , DOI: 10.1002/jdn.10088
Xiaoyu Pan ₁ , Chengqing Yang ₁ , Shaochun Ma ₂ , Weihong Wang ₃ , Peipei Liu ₁ , Ya Guo ₁ , Yedan Liu ₁ , Jie Song ₁ , Sifei Wu ₁ , Liping Yi ₁ , Wei Wei ₄ , Zongbo Chen ₁

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Polycystic kidney disease with Tuberous sclerosis is a disease caused by the deletions of the TSC2-PKD1 gene. The disease is rare reported and the characterized manifestation is severe polycystic kidney growth. The diagnosed 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.

更新日期：2021-01-25

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