Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Self-mutilation behaviour in Lesch-Nyhan syndrome.

R G E C Cauwels1, L C Martens

  • 1Department of Paediatric Dentistry, Centre for Special Care, Paecamed Research, Ghent University, Ghent, Belgium. rita.cauwels@ugent.be

Journal of Oral Pathology & Medicine : Official Publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology
|September 6, 2005
PubMed
Summary

Lesch-Nyhan syndrome (LNS) is a rare genetic disorder causing severe self-injurious behavior (SIB). This case report presents a unique management approach for SIB in LNS patients.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Biodentine™ as a temporary filling in deep carious lesions in permanent teeth: a prospective observational 33-month follow-up study.

European archives of paediatric dentistry : official journal of the European Academy of Paediatric Dentistry·2024
Same author

Correction to: Biodentine™ material characteristics and clinical applications: a 3 year literature review and update.

European archives of paediatric dentistry : official journal of the European Academy of Paediatric Dentistry·2020
Same author

Outcomes of different radioprotective precautions in children undergoing dental radiography: a systematic review.

European archives of paediatric dentistry : official journal of the European Academy of Paediatric Dentistry·2020
Same author

In vivo correlation of near-infrared transillumination and visual inspection with bitewing radiography for the detection of interproximal caries in permanent and primary teeth.

European archives of paediatric dentistry : official journal of the European Academy of Paediatric Dentistry·2020
Same author

Paediatric dental emergencies: a retrospective study and a proposal for definition and guidelines including pain management.

European archives of paediatric dentistry : official journal of the European Academy of Paediatric Dentistry·2018
Same author

Correction to: Biodentine™ material characteristics and clinical applications: a 3 year literature review and update.

European archives of paediatric dentistry : official journal of the European Academy of Paediatric Dentistry·2018

Area of Science:

  • Genetics
  • Neurology
  • Biochemistry

Background:

  • Lesch-Nyhan syndrome (LNS) is a rare X-linked genetic disorder.
  • It is characterized by the near absence of the enzyme hypoxanthine-guanine phosphoribosyl transferase (HPRT).
  • HPRT deficiency leads to excessive uric acid production and severe clinical manifestations.

Observation:

  • LNS affects 1 in 100,000 to 380,000 live births.
  • Clinical features include mental retardation, choreoathetosis, spasticity, hyperuricemia, and cerebral palsy.
  • A hallmark of LNS is intractable self-injurious behavior (SIB), such as lip biting and head banging.

Findings:

  • This case report details a unique approach to managing self-injurious behavior in Lesch-Nyhan syndrome.
  • The presented method addresses the extreme challenges associated with SIB in LNS patients.

Related Experiment Videos

Implications:

  • Effective management of SIB is crucial for improving the quality of life for LNS patients.
  • Novel therapeutic strategies are needed to address the complex neurological and behavioral aspects of LNS.
  • Further research into HPRT deficiency and its neurological consequences can lead to better treatment outcomes.