Tuberous sclerosis--a multi system disease.
Tuberous sclerosis is a genetic disease with autosomal dominant inheritance, associated with hamartomas in several organs and various skin findings. A case of a ten year old boy is presented here to highlight the multisystem involvement in tuberous sclerosis. The child had seizures, facial papular naevi and peri-ungual fibromas. MRI revealed cortical tubers, white matter lesions and subependymal nodules. Orbital ultrasound showed retinal hamartoma on the left side. Ultrasound of the abdomen revealed a soft tissue mass at the upper pole of left kidney with a small cyst in right kidney.
Arora
Vijinder
V
Nijjar Scan and Diagnostic Centre, Amritsar, India. dr_vijinderarora@yahoo.co.in
Nijjar
Inderbir Singh
IS
Singh
Jatinderpal
J
Sandhu
P S
PS
D001921:Brain / Q000473:pathology; D002648:Child; D003937:Diagnosis, Differential; D005145:Face; D005350:Fibroma / Q000473:pathology; D006222:Hamartoma / Q000175:diagnosis; D006801:Humans; D007668:Kidney / Q000473:pathology; D008297:Male; D009262:Nails / Q000473:pathology; D009506:Nevus / Q000175:diagnosis; D012164:Retinal Diseases / Q000175:diagnosis; D012640:Seizures / Q000209:etiology; D012878:Skin Neoplasms / Q000175:diagnosis; D014402:Tuberous Sclerosis / Q000150:complications / Q000175:diagnosis* / Q000235:genetics