BÁO CÁO LÂM SÀNG: KHỐI U NÃO THẤT BÊN Ở BỆNH NHÂN XƠ CỨNG CỦ

Abstract

Tuberous sclerosis (TS) is a rare genetic disorder caused by autosomal dominant inheritance. Mutations in either tuberous sclerosis complex 1 (TSC1) or tuberous sclerosis complex 2 (TSC2) genes play a role and lead to diseases involving multiple organs, such as the brain , heart, kidney, skin, lung and liver. The management of these patients is often multidisciplinary involving specialists from many different fields. This case report of a 14-year-old patient presented to the hospital with manifestations of intracranial hypertension pressure. Brain magnetic resonance imaging showed a large tumor in the lateral ventricle, compressing the foramen of Monro, causing hydrocelphalus. The tumor was diagnosed histopathologically as subependymoma giant astrocytoma. Computed tomography of the abdomen also revealed multiple single cysts in both kidneys. Diagnosis of tuberous sclerosis disease is confirmed by testing for the TSC1 and TSC2 genes.