Self-mutilation behaviour in Lesch-Nyhan syndrome.
Lesch-Nyhan syndrome (LNS), first described in 1964 by Lesch and Nyhan, is a rare X-linked genetic disorder involving (near) absence of the enzyme hypoxanthine-guanine phosphoribosyl transferase (HPRT). It occurs in 1:100,000 to 380,000 live births (1, 2). The deficiency of HPRT activity leads to an excessive uric acid production resulting in neurological, renal and musculoskeletal manifestations. Death usually occurs in the second or third decade from infection or renal failure. Clinical presentation is characterized by mental retardation, choreoathetosis, spasticity, hyperuricemia and cerebral palsy. A characteristic feature of LNS is the appearance of intractable self-injurious behaviour (SIB), usually in the form of severe lip and finger biting, gouging of eyes, face scratching and head banging requiring extreme management techniques such as the application of restraints and or extraction of teeth at an early age. In this case report a unique approach of SIB in LNS is presented.
Cauwels
R G E C
RG
Department of Paediatric Dentistry, Centre for Special Care, Paecamed Research, Ghent University, Ghent, Belgium. rita.cauwels@ugent.be
Martens
L C
LC
D001734:Bites, Human; D002675:Child, Preschool; D005500:Follow-Up Studies; D006801:Humans; D007926:Lesch-Nyhan Syndrome / Q000150:complications*; D008046:Lip / Q000293:injuries*; D008297:Male; D009064:Mouth Protectors; D009967:Orthodontic Appliances; D012652:Self Mutilation / Q000209:etiology; D016728:Self-Injurious Behavior / Q000209:etiology*