| Literature DB >> 18245941 |
Vijinder Arora1, Inderbir Singh Nijjar, Jatinderpal Singh, P S Sandhu.
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.Entities:
Mesh:
Year: 2008 PMID: 18245941 DOI: 10.1007/s12098-008-0012-y
Source DB: PubMed Journal: Indian J Pediatr ISSN: 0019-5456 Impact factor: 1.967