Case Report on: Tuberous Sclerosis (original) (raw)

2021, Journal of pharmaceutical research international

Introduction: Tuberous sclerosis is a rare hereditary disease that creates noncancerous tumours in the brain, kidneys, heart, liver, eyes, lungs, and skin. Seizures, intellectual incapacity, developmental delays, and behavioral issues are just a few of the warning symptoms. Like Skin problems, and lung and kidney problems. A hereditary mutation in one of two genes causes TSC.TSC1 and TSC2 are two distinct TSC types. The proteins hemartin and tuberin, which act as tumour suppressors and govern cell proliferation and differentiation, are produced by these genes. [1]. Background: Tuberous sclerosis complex (TSC) is a rare genetic disorder that affects 1 in every 6,000 to 1 in every 18,000 people. It's a life-threatening condition caused by the formation of benign tumors/lesions in several organs. Tumors can affect organ growth and/or function and are frequent in the brain, heart, skin, kidneys, and lungs. The number of organs affected, as well as the size of tumours inside each organ, varies greatly. As a result, the disease's symptoms are extremely variable and unexpected [2]. Case Presentation: A 35-year old female admitted to AVBRH on date 25/11/2021 with the chief complaint of fever chills, nausea, vomiting and itching and back skin over mouth and eye surrounding area since in 10 days. History of Present Illness: Tuberous sclerosis, also known as tuberous sclerosis complex, is a Case Study