A 60-year-old man with H/o epilepsy in childhood and learning disabilities visited the hospital for routine evaluation of hypertension. His physical examination revealed various cutaneous manifestations such as facial angiofibroma’s, shagreen patches, forehead plaques, periungual fibromas and ash leaf spots. In addition, the patient confirmed the existence of a family history of this disease from three generations.
His kidney function test indicated a stage 3 chronic kidney disease. Other blood investigations were regular, but urine examination revealed proteinuria. His ultrasound and CT scan of the abdomen revealed roundish, hypoechoic, numerous cysts of varying size in both the kidneys, indicating polycystic kidney disease.
His echocardiography was routine. A brain CT revealed bilateral periventricular and cortical calcified tubers.
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