Head Drop Episodes in a Toddler: A Case Report of Tuberous Sclerosis with Autosomal Dominant Polycystic Kidney Disease

Abstract

Introduction: Tuberous Sclerosis Complex (TSC) is an autosomal dominant neurocutaneous disorder characterized by development of hamartomas in the brain, skin, kidneys, lung and heart. These benign tumors rarely progress to malignancy but can lead to organ dysfunction. Two tumor suppressor genes have been implicated in the pathogenesis of TSC. The TSC1 gene, found on chromosome 9q3, codes for the protein hamartin, while the TSC2 gene, found on chromosome 16p13, codes for tuberin. Common renal manifestations of TSC include angiomyolipomas (85.4%), renal cysts (44.8%) and renal cell carcinomas (4.2%). Less than 2% of patients with …