Lesch-Nyhan syndrome: case brief of a rare disease

Authors

  • Sunil Kumar Agarwalla Department of Pediatrics, MKCG Medical College, Berhampur, Odisha, India
  • Jagatshreya Satapathy Department of Pediatrics, MKCG Medical College, Berhampur, Odisha, India

DOI:

https://doi.org/10.18203/2320-6012.ijrms20184443

Keywords:

HPRT deficiency, Hyperuricemia, Lesch-Nyhan Syndrome, Transverse sinus

Abstract

Lesch-Nyhan Syndrome is a rare X- linked disease due to absence of HPRT enzyme. It leads to hyperuricemia, gout, renal failure, neurological and behavioural disorders, including compulsive self-mutilation. Management includes drugs against hyperuricemia, measures to prevent self-mutilation and behavioural therapy. This case is that of an eight months old child coming for respiratory symptoms and self-mutilation, who was ultimately diagnosed with Lesch- Nyhan syndrome.

 

References

Gibson KM, Pearl PL. Inborn errors of metabolism and the nervous system. In: Daroff RB, Jankovic J, Mazziotta JC, Pomeroy SL, eds. Bradley’s Neurology in Clinical Practice. 7th ed. Philadelphia:Elsevier; 2016:1339.

Harris JC. Disorders of Purine and Pyrimidine Metabolism. In: Kliegman RM, Stanton BF, St Geme, JW, Schor, NF, ed. Nelson textbook of Pediatrics. 12th ed. Philadelphia:Elsevier; 2016:746.

Rodwell VW, Metabolism of purine and pyrimidine nucleotides. In: Rodwell VW, Bender DA, Botham KM, Kennelly PJ, Weil PJ, eds. Harper’s Illustrated Biochemistry. 13th ed. New York:McGraw-Hill; Education, 2015:354.

Lesch M, Nyhan WL. A familial disorder of uric acid metabolism and central nervous system function. Am J Med. 1964 Apr 1;36(4):561-70.

Seegmiller JE, Rosenbloom FM, Kelley WN. Enzyme defect associated with a sex-linked human neurological disorder and excessive purine synthesis. Science. 1967 Mar 31;155(3770):1682-4.

Ropper AH, Samuels MA, Klein, JP, ed. Adams and Victor’s Principles of Neurology. 10th ed. New York:McGraw-Hill Education; 2014:986.

Harris JC. Disorders of Purine and Pyrimidine Metabolism. In: Kliegman RM, Stanton BF, St Geme JW, Schor NF, eds. Nelson textbook of Pediatrics. 12th ed. Philadelphia:Elsevier; 2016:747.

Sugahara T, Mishima K, Mori Y. Lesch-Nyhan syndrome: successful prevention of lower lip ulceration caused by self-mutilation by use of mouth guard. Int J Oral Maxillofacial Surgery. 1994 Feb 1;23(1):37-8.

Liang-Ru C. Successful treatment of self-inflicted oral multilation using an acrylic splint retained by a head gear. Am Acad Pediatric Dentistry. 1996;18:408-10.

Kale A, Shah K, Hallikerimath S. Lesch-Nyhan syndrome: A case report. J Indian Soc Pedodontics Preventive Dentistry. 2008 Jan 1;26(5):11.

Downloads

Published

2018-10-25

How to Cite

Agarwalla, S. K., & Satapathy, J. (2018). Lesch-Nyhan syndrome: case brief of a rare disease. International Journal of Research in Medical Sciences, 6(11), 3752–3755. https://doi.org/10.18203/2320-6012.ijrms20184443

Issue

Section

Case Reports