Literature DB >> 18245941

Tuberous sclerosis--a multi system disease.

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.

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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


  6 in total

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Authors:  J P Osborne; A Fryer; D Webb
Journal:  Ann N Y Acad Sci       Date:  1991       Impact factor: 5.691

Review 2.  Diagnostic criteria: tuberous sclerosis complex. Report of the Diagnostic Criteria Committee of the National Tuberous Sclerosis Association.

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Journal:  J Child Neurol       Date:  1992-04       Impact factor: 1.987

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Authors:  A E Fryer; A H Chalmers; J P Osborne
Journal:  J Med Genet       Date:  1990-04       Impact factor: 6.318

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Authors:  B L Bender; E J Yunis
Journal:  Pathol Annu       Date:  1982

5.  Unilateral tuberous sclerosis complex.

Authors:  Asher Ahmed Mashhood; Muhamad Amjad
Journal:  J Coll Physicians Surg Pak       Date:  2004-10       Impact factor: 0.711

6.  The molecular genetics of tuberous sclerosis.

Authors:  J R Sampson; P C Harris
Journal:  Hum Mol Genet       Date:  1994       Impact factor: 6.150

  6 in total

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