• The Journal of Korea Assosiation for Disability and Oral Health
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• v.2 no.2
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• pp.147-152
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• 2006

Lesch-Nyhan syndrome is rare X-linked genetic disorder involving absence of the enzyme hypoxanthine guanine phosphoribosyl transferase (HGPRT) related to purine metabolism. The deficiency of HGPRT activity leads to an excesscive uric acid production and consequent hyperuricemia. It occurs almost exclusively in males, and the incidence is estimate to be 1/100,000~380,000. Clinical presentation is characterized by developmental delay, mental retardation, choreoathetosis, spastic cerebral palsy, nephrolithiasis, obstructive nephropathy and acute gouty arthritis. A characteristic feature of Lesch-Nyhan syndrome is the appearance of intractable self-mutilation behavior. Self-mutilation behavior is complicated by secondary infection and tissue loss as well as pain. The dental management of self-mutilation includes presertive methods of using appliances such as lip bumper or soft mouthguard and radical methods such as extraction of all teeth or orthognathic surgery. A case of Lesch-Nyhan syndrome patient with self-mutilation and severe lower lip injury is presented. He was treated successfully with soft mouthguard.

• Journal of the korean academy of Pediatric Dentistry
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• v.35 no.3
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• pp.532-538
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• 2008

Lesch-Nyhan syndrome is a rare X-linked recessively inherited disorder, caused by complete absence or decrease in activity of hypoxanthine guanine phosphoribosyl transferase(HPRT), an enzyme involved in purine metabolism. This enzyme deficiency gives rise to nephropathy symptoms, such as hyperuricosuria and hyperuricemia by excessive uric acid production and neuropathy symptoms, such as mental retardation, choreoathetosis and self mutilation behavior. Patients with Lesch-Nyhan syndrome have tendency to bite their lip, tongue and finger. In severe cases, partial or even total amputation of tongue or finger occur. Self-inflicted bites are often complicated by secondary infection to the injured site as well as pain. Furthermore tissue loss by biting results in esthetic problems. The dental management of self mutilation includes treatment with appliances such as soft mouth guard or lip bumper, extraction of all the teeth, and orthognathic surgery. We report a case of a 13 year-old boy with Lesch-Nyhan syndrome, who severely injured himself on his tongue. At first, conservative treatment using soft mouth guard was considered, but it could not prevent trauma on his tongue. Therefore, extraction of the lower anterior and posterior teeth was carried out.

• Journal of the korean academy of Pediatric Dentistry
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• v.47 no.1
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• pp.93-98
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• 2020

Lesch-Nyhan syndrome is a rare X-linked, recessively inherited disorder of purine metabolism, caused by complete absence of the enzyme hypoxanthine-guanine phosphoribosyl transferase. This syndrome is characterized by 3 major features: neurological dysfunction, hyperuricemia, and cognitive and behavioral disturbances (e.g., self-mutilation, which begins at 2 to 3 years of age). Uncontrollable self-mutilation begins with biting of the perioral tissues and extends into patterns such as finger biting and head hitting. This report describes the case of a 31-month-old boy who was diagnosed with Lesch-Nyhan syndrome with severe lip injuries caused by self-mutilative behaviors. The behaviors were blocked with a semi-fixed lip bumper for a short period. The device was applied to the patient on the day of the visit without the requirement for an oral impression. It was easy to manage oral hygiene and adjust the device because it was detachable by clinicians and guardians. Therefore, a semi-fixed lip bumper may be useful as an interim appliance to block selfmutilative behaviors in children with Lesch-Nyhan syndrome.

• Journal of the korean academy of Pediatric Dentistry
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• v.32 no.2
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• pp.306-311
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• 2005

Lesch-Nyhan syndrome is a rare disorder of purine metabolism, first described in 1964. The incidence is estimated to be 1:100,000 birth. It is an X-linked recessive disorder in which affected males have a virtually complete deficiency of the enzyme hypoxanthine guanine phosphorybosyl transferase(HGPT). This enzyme deficiency gives rise to excessive uric acid production and consequent hyperuricemia. Lesch-Nyhan syndrome is clinically characterized by mental retardation, choreoathetosis, spastic cerebral palsy, and severe self-mutilation behavior. Patient with Lesch-Nyhan syndrome mostly bite their lip, tongue and finger. In severe cases, partial or total amputation of the lip and tongue is common. Self-inflicted bites are often further complicated by secondary infection to injuried site as well as pain. And tissue loss by biting results in esthetic problems. This report presents a Lesch-Nyhan syndrome patient with self-mutilation, who have a destruction of perioral tissue, especially the lower lip. He was treated successfully with soft mouthguard, psychological and pharmacological method.

• Journal of Yeungnam Medical Science
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• v.25 no.1
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• pp.78-83
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• 2008

Lesch-Nyhan syndrome is an inborn error of purine metabolism resulting from hypoxanthine-guanine-phosphoribosyltransferase (HGPRT) deficiency and leading to excess purine production and uric acid over-production. It is a very rare X-linked recessive disorder, characterized by movement disorder, cognitive deficits, and self-injurious behavior. However, because of the high incidence of calculi, patients may present for surgery of urinary tract, and have increased risk of difficult intubation, aspiration pneumonia, renal insufficiency or sudden death. We report the case of a 5-year-old boy with Lesch-Nyhan syndrome who underwent successive extracorporeal shockwave lithotripsy under general anesthesia.

• Clinical and Experimental Pediatrics
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• v.46 no.5
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• pp.505-509
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• 2003

Lesch-Nyhan syndrome is an X-linked recessive disorder characterized by hyperuricemia, choreoathetosis, spasticity, mental retardation, and compulsive, self-injurious behavior. This disorder results from a complete deficiency of the purine salvage enzyme, hypoxanthine-guanine phosphoribosyl transferase(HPRT). We report here on a case of Lesch-Nyhan syndrome in a 1-year, 7-month-old male who presented with frequent vomiting, failure to thrive, and developmental delay. The diagnostic work-up revealed hyperuricemia, hyperuricosuria, and medullary nephrolithiasis. The HPRT activity in the erythrocytes was undetectable with a biochemical assay. We also identified de novo mutation which was a deletion of the 649th base, adenosine, in HPRT gene(649delA) by analysis of cDNA using RT-PCR technique coupled with direct sequencing.

• Physical Therapy Korea
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• v.9 no.4
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• pp.13-35
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• 2002

Lesch-Nyhan 증후근(LNS)은 hypoxanthine guanine phosphoribosyle transferase(HGPRT) 효소를 암호화 하는 X 염색체가 불완전해서 일어나는 유전적인 추제외로계(또는 기저핵)의 드문 병변이다. 출생시 LNS 유아는 정상적인 운동발달이 관찰되어진다. LNS에게서 현저하게 진단적인 특징으로 보여지는 운동심리적 행동인 self-mutilating 행위는 4살 이후에나 나타난다. LNS 아이들은 오히려 초기에 Rett's 증후근, 뇌성마비, 자폐, 다운증후근과 유사한 운동행위를 보인다. 그래서 LNS 아이들은 앞에 기술한 신경학적 장애로 오진을 받을 수가 있다. 오진으로 인해 초기에 적절한 치료를 받지 못한다면 LNS는 결과적으로 합병증(신장부전)과 self-mutilating 행위로 인하여 치명적일 수가 있다. 그러므로, 이 연구의 목적은 LNS 평가 동안 더 나은 진단을 하도록 하기 위하여 LNS와 관련된 기능부전에 대한 지식을 임상가들에게 제공하고자 함이었다. 연구 대상자는 10살인 2명의 쌍둥이 남아이었으며 실험은 뻗기 과제 수행(reaching task)시 움직임 특성을 보기 위하여 운동형상학적과 비디오 분석을 사용하였다. 기술통계로 분석 결과 움직임 시간과 단위가 증가됨을 보였고 사지의 분절적 움직임이 협응되지 않음을 보였다. ballistic과 jerky 움직임 양상은 dysmetric과 비긴장성 운동 행위에서 우세하였다. LNS은 추체로계 운동 장애 (과근긴장도나 저긴장도) 와 추체외로계의 운동 장애(dystonia와 choreoathetosis)의 혼합된 형태를 보였다. 결론으로 이 연구는 운동발달 장애를 가진 아이들을 치료하고자 할 때 임상가들한테 LNS 아이들의 움직임 장애의 다른 진단적 특징을 알아야 한다는 것을 제시하고자 한다.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.14 no.2
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• pp.97-101
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• 2018

Lesch-Nyhan syndrome is a rare X-linked recessive genetic disorder. During purine metabolism, the hypoxanthine guanine phosphribosyl transferase (HGPRT) enzyme is deficient causing phosphoribosyl transferase to accumulate and resulting in excessive uric acid. Clinical symptoms include hypercalcemia, choreoathetosis, spasticity, mental retardation, and self-injury to lips, tongue or fingers. This results not only in pain caused by the self-injury but also secondary infection of the wound site and the esthetic damage of the soft tissue defect. Dental treatments include conservative methods using intraoral appliances such as soft mouthguards, fixed lip bumpers, and occlusal guards, and invasive methods such as extraction of all teeth or forming an artificial anterior open bite. We report two cases of Lesch-Nyhan syndrome patients with self-mutilation behavior; one was treated with a preservative method using a soft mouthguard, and the other was treated with extraction of all teeth.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.7 no.2
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• pp.258-266
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• 1996

Self-injurious behaviors are commoly founded in the case of the developmentally impaired, such as mental retardation and autistic disorder. These behaviors are primary serious sources of distress for both child and their parents, another obstacle to overcome within the family and society. The author has a case that a child, had never before shown self-injurious behaviors. He abruptly started to injury his face and heel. The beginnings of these harmful behaviors are associated with symptoms of physical illness, such as fever, chills and general aches. The self-injured wounds were very severe. After the patient was treated with haloperidol and improved his physical conditions, self-injurious behaviors disappeared. The author reports the child's clinical process, characteristics of self-injurious behaviors, and discuss the treatment factors, along with a literature review.