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Indian J Pediatr ; 2008 Jan; 75(1): 77-9
Article in English | IMSEAR | ID: sea-84775

ABSTRACT

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.


Subject(s)
Brain/pathology , Child , Diagnosis, Differential , Face , Fibroma/pathology , Hamartoma/diagnosis , Humans , Kidney/pathology , Male , Nails/pathology , Nevus/diagnosis , Retinal Diseases/diagnosis , Seizures/etiology , Skin Neoplasms/diagnosis , Tuberous Sclerosis/complications
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