Infantile spasms and early-onset progressive polycystic renal lesions associated with TSC2/PKD1 contiguous gene deletion syndrome. (March 2021)

• Record Type: Journal Article
• Authors: Matsubara, Yoshie; Akamine, Satoshi; Chong, Pin Fee; Kawakami, Saori; Maehara, Kenji; Kaku, Yoshitsugu; Kurokawa, Mari; Morisada, Naoya; Iijima, Kazumoto; Kira, Ryutaro
• Is Part Of: Seizure. Volume 86(2021)
• Page Start: 82
• Page End: 84
• Publication Date: 2021-03
• Subjects: Infantile spasm -- Tuberous sclerosis -- Autosomal dominant polycystic kidney disease -- TSC2/PKD1 contiguous gene deletion syndrome -- Angiomyolipoma; Epilepsy -- Periodicals; Epilepsy -- Periodicals; Seizures -- Periodicals; Épilepsie -- Périodiques; Electronic journals; Electronic journals; 616.853
• DOI: 10.1016/j.seizure.2021.01.016
• Languages: English
• ISSNs: 1059-1311

Abstract

Highlights: TSC2/PKD1 contiguous gene deletion syndrome is a rare cause of tuberous sclerosis. We report the case of infantile spasms with early-onset polycystic kidney lesions. Renal lesions can be detected in early infancy and show progressive enlargement.