Incidental diagnosis of tuberous sclerosis in a child with falciparum malaria

Authors

  • Sanjay Singla Department of Pediatrics, RNT Medical College, Udaipur, Rajasthan, India
  • Anuradha Sanadhya Department of Pediatrics, RNT Medical College, Udaipur, Rajasthan, India
  • Suresh Goyal Department of Pediatrics, RNT Medical College, Udaipur, Rajasthan, India
  • Amzad Khan Department of Pediatrics, RNT Medical College, Udaipur, Rajasthan, India
  • Chakshu Chaudhry Department of Pediatrics, RNT Medical College, Udaipur, Rajasthan, India

DOI:

https://doi.org/10.18203/2349-3291.ijcp20164616

Keywords:

Adenoma sebaceum, Neurocutaneous syndrome, Tuberous sclerosis

Abstract

Tuberous sclerosis complex is a rare genetic disorder inherited in autosomal dominant fashion. It is a multisystem disorder involving brain, skin, kidneys, heart, eyes and lungs which becomes apparent only in late childhood, limiting the usefulness of early diagnosis in infancy. Here, we report a case of a 14 year female child presenting with seizure, mental retardation and typical skin manifestations.

Metrics

Metrics Loading ...

References

Wienecke R, Klemm E, Karparti S, Swanson NA, Green AJ, DeClue JE. Reduction of expression of tuberin, the tuberous-sclerosis-complex-gene-2 product in tuberous sclerosis complex associated connective tissue nevi and sporadic squamous and basal cell carcinomas. J Cutan Pathol. 2002;29:287-90.

European Chromosome 16 Tuberous Sclerosis Consortium. Identification and characterization of the tuberous sclerosis gene on chromosome 16. Cell. 1993;75(7):1305-15.

Gupta S, Bhowate R, Degwekar SS. Clinical and radiological findings related to tuberous sclerosis complex: a case report. J Contemp dent Prac. 2008;(9)4:85-91.

Harper JJ, Trembath RC. Genetics and genodermatosis in: breathnach, neil cox, christopher griffiths. Rook's Textbook of Dermatology, 7th edition, volume-1 Blackwell, Australia; 2004:1233-1237.

Henry J, Baskin. The pathogenesis and imaging of the tuberous sclerosis complex. Pediatr Radiol. 2008;38:936-52.

Babak NK, Noriko S. Neuroimaging of tuberous sclerosis: spectrum of pathologic findings and frontiers in imaging. American J Roentgenol. 2008;190(5):304-9.

Keith A, Casper MS, Lane FD, Chen B, John JB. Tuberous sclerosis complex: renal imaging findings. Radiology. 2002:225.

Sahin M. Tuberous sclerosis. In: Kliegman RM, Stanton BF, Geme III JWS, Schor NF, Behrman RE, editors. Nelson Textbook of Pediatrics. 20th ed. Philadelphia: Elsevier; 2015.

Krueger DA, Franz DN. Current management of tuberous sclerosis complex. Pediatr Drugs. 2008;10(5):299-313.

Jankar AN, Palange PB, Purandare VC. Tuberous sclerosis - a case report. Int J Biomed Res. 2014;5:649-50.

Downloads

Published

2016-12-21

How to Cite

Singla, S., Sanadhya, A., Goyal, S., Khan, A., & Chaudhry, C. (2016). Incidental diagnosis of tuberous sclerosis in a child with falciparum malaria. International Journal of Contemporary Pediatrics, 4(1), 269–271. https://doi.org/10.18203/2349-3291.ijcp20164616