Abstract

Dr. Bijoya Debnath* and Dr. Hemalatha Ganapathy

ABSTRACT

Tuberous sclerosis is an autosomal dominant syndrome occurring at a frequency of approximately 1 in 6000 births. It is characterized by the development of hamartomas and benign neoplasms involving the brain and other vital organs such as the kidneys, heart, eyes, lungs, and skin. The most frequent clinical manifestations are seizures, autism, and mental retardation. One tuberous sclerosis locus (TSC1) is found on chromosome 9q34, and encodes a protein known as hamartin; the more commonly mutated tuberous sclerosis locus (TSC2) is at 16p13.3 and encodes tuberin. These two proteins associate to form a complex that inhibits the kinase mTOR, which is a key regulator of protein synthesis and other aspects of anabolic metabolism. Tuberous sclerosis has been associated with hamartomatous growths and angiomyolipomas, an association with gastric adenocarcinoma has been reported only once as a co-incidental finding and our case in the second finding.