Citation

Uy JL, Lapeña JF. Pak. J. Med. Sci. Q. 2016; 32(6): 1583-1585.

Affiliation

Prof. Dr. José Florencio F. Lapeña, Jr., MA, MD. Department of Otorhinolaryngology, College of Medicine, Philippine General Hospital, University of the Philippines Manila, Philippines.

Copyright

(Copyright © 2016, Professional Medical Publications)

DOI

10.12669/pjms.326.12088

PMID

28083069

Abstract

A 3-year-old boy referred for persistent tongue bleeding was diagnosed with a rare self-mutilating disease that had also affected his lip and fingers. He underwent multiple odontectomy and partial glossectomy and continues to undergo behavior therapy and on-demand splints and restraints. He has stopped self-biting and has gained appetite and weight. Lesch-Nyhan Syndrome can cause significant morbidity including self-inflicted oral hemorrhage and emergent measures are not easily decided. The long-term management of its neurobehavioral symptoms is problematic and multidisciplinary, and health providers remain challenged to find the best treatment, prolong lifespan and improve quality of life within their respective contexts.

Language: en

Keywords

Hypoxanthine-guanine phosphoribosyl transferase 1 deficiency; Lesch-Nyhan syndrome; Oral hemorrhage; Self-injurious behavior; Self-mutilation