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