Causes and risk factors
It is a rare genetic disease. It is caused due to mutations in the gene TSC1 or TSC2.
Clinical presentation
Symptoms include non-cancerous lesions on various parts. Skin complaints include patches of light coloured skin, thickened skin, facial lesions, small fleshy tumours, reddish spots or bumps. Brain shows 3 types of lesions namely – cortical tubers, subependymal nodules [SEN], subependymal giant cell astrocytomas [SEGA]. Brain involvement causes symptoms like learning disorder, developmental delay, ADHD, OCD, aggression, epilepsy. Lesions on kidney cause polycystic kidney disease, kidney failure. Angiomyolipomas are benign growths with muscle cells and fatty tissues on the kidney seen in TCS. It causes severe bleeding leading to pain and weakness. This results in blood loss and eventually anemia. Other kidney disorders in TCS include renal cell carcinoma. Lung lesions cause coughing, shortness of breath etc.
Investigation
Medical history by the patient and Clinical examination by the doctor helps in diagnosis. An EEG is recommended. Imaging studies such as scan and MRI is useful for further evaluation.
Treatment
There is no specific treatment. Supportive care is given with symptomatic treatment to prevent further complications. Medications like anti epileptic drugs, anti psychotic drugs, may be required. Surgical removal of tumors is necessary. Psychotherapy will also help in managing the psychological symptoms.
Facts and figures
The disease occurs in 1 in 6000 people.
