Abstract
Tuberous sclerosis is a genetic disease with autosomal dominant inheritance, associated with hamartomata 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 periungual 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.
Similar content being viewed by others
References
Osbome JP, Fryer A. Epidemiology of Tuberous Sclerosis. NY Acad Sci 1991; 615: 125–127.
Harper JI. Genetics and genodermatoses. In Champion RN, Burton JL, Burns DA, Breathnach SM, ed. Textbook of Dermatology. London; Blackwell Science, 1998: 357–436.
Rayer PFO. Treatise: maladies de la Peau. 2nd edn. Philadelphia; Williams & Wilkins, 1835: 656–659.
Sherlock EB. The Feeble-minded: a guide to study and practice. London; MacMillan, 1911.
Fryer AE. Osbourne JP. Tuberous sclerosis: a clinical appraisal. Pediatr Rev Commun 1987; 1: 239–255.
Sampson JR, Harris PC. The molecular genetics of tuberous sclerosis. Hum Mol Genet 1994; 3: 1477–1480.
Bender BL, Yunis EJ. The pathology of tuberous sclerosis. Pathol Annu 1982; 17: 339–382.
Roach ES, Smith M, Huttenlocher P, Bhat M, Alcorn D, Hewley L. Diagnostic criteria: tuberous sclerosis complex. J Clin Neurol 1992; 7: 221–224.
Mashhood AA, Amjad M. Unilateral tuberous sclerosis complex. JCPSP 2004; 14(10): 628–630.
Fryer AE, Chalmers AH, Osbourne JP. The value of investigation for genetic counselling in tuberous sclerosis. J Med Genet 1990; 27: 217–223.
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Arora, V., Nijjar, I.S., Singh, J. et al. Tuberous sclerosis — A multi system disease. Indian J Pediatr 75, 77–79 (2008). https://doi.org/10.1007/s12098-008-0012-y
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s12098-008-0012-y