Treatment of X-Linked Primary Hyperuricemia With Allopurinol

Newcombe, David S.; Shapiro, Samuel L.; Sheppard, George L.; Dreifuss, Fritz E.

doi:10.1001/jama.1966.03110160143049

Cited by 21 publications

(4 citation statements)

References 8 publications

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“…There have been several studies on the pathogenesis of the neurologic disorders of the Lesch-Nyhan syndrome, such as self-mutilation, but the mechanisms of these disorders remain unclear. Several drug trials have been administered to improve the severe self-destructive behaviour with questionable effectiveness [16][17][18].…”

Section: Discussionmentioning

confidence: 99%

“…Various forms of treatment have been instituted to LNS patients in an attempt to limit the destructive pattern of behaviour. The drug allopurinol successfully decreases uric acid levels by inhibiting xanthine oxidase activity [16]. Thus, it prevents the renal and musculoskeletal manifestations of the disease leading to a significant increase in life expectancy, as renal failure was the common cause of death in early childhood.…”

Section: Introductionmentioning

confidence: 99%

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Lesch–Nyhan syndrome: a preventive approach to self‐mutilation

Fardi

Topouzelis

Kotsanos³

2003

Int J Paed Dentistry

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Lesch-Nyhan syndrome (LNS), a rare inborn error of metabolism, is characterized by self-injurious behaviour, which results in partial or total destruction of oral and perioral tissues and/or fingers and hands. Prevention of self-mutilation raises significant difficulties. Treatment modalities include drug therapy, extraction of teeth, oral appliances and orthognathic surgery, all with variable success. A case of a 10-year-old boy with aggressive behaviour and severe lower lip injuries is presented. A palatal plate fabricated to raise the anterior bite proved to have satisfactory results. Although two adjustments were required during the recall visits, the effectiveness of the appliance in assisting healing of soft tissue damage was immediate and still apparent during the 3 years and 8 month follow-up period.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Lesch–Nyhan syndrome: a preventive approach to self‐mutilation

Fardi

Topouzelis

Kotsanos³

2003

Int J Paed Dentistry

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“…Various types of treatment have been proposed for oral self-injury, and can be classed as pharmacological [ 13 , 14 , 15 ], orthodontic [ 16 , 17 , 18 , 19 , 20 , 21 , 22 , 23 ], or extractive, i.e., the extraction of teeth [ 24 , 25 ]. Pharmaceutical intervention is generally aimed at correcting the dopaminergic deficiency in the striatum, responsible for the self-injury behavior seen in LNS patients.…”

Section: Introductionmentioning

confidence: 99%

Oral Self-Mutilation in Lesch–Nyhan Patients: A Cross-Sectional Study

Isola

Piccardo²,

Mari

et al. 2022

JCM

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Lesch–Nyhan syndrome (LNS) is a rare genetic condition resulting from an inherited disorder of purine metabolism. It is characterized by the lack of one enzyme, hypoxanthine-guanine phos-phoribosyltransferase (HGPRT), which is responsible for purine salvage. The main manifestations of this syndrome are hyperuricaemia, reduction in cognitive abilities, self-aggressive behavior, choreoathetosis, spasticity, and retarded development. The aim of the study was to investigate the means of treatment and efficacy of prevention of oral self-injury behavior (SIB) in patients with LNS. Information regarding the type and treatment of oral SIB in 19 LSN Italian patients (mean age 23.3 years) was gathered via a structured telephone interview of their parents. A total of 84% of the patients showed some form of self-injury behavior; the first form to manifest itself was finger biting (37%), followed by lip biting (25%), and then tongue biting (18%). Furthermore, 74% of cases featured oral SIB, and tooth extraction was found to be the most frequent form of treatment practiced (71%). This study has revealed the great difficulty parents and carers face in managing forms of oral SIB; dental extraction was the most common choice, despite its invasive nature and far-reaching consequences in regard to the psychosocial status of the patients.

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“…Allopurinol is used for the pharmacological treatment of LNS; it reduces uric acid and prevents the development of renal and musculoskeletal injury, but it has no effect on the neurological manifestations and does not reduce the self-injuries behaviour [5,9]. Thanks to the delay of renal failure, which is the common cause of death in early childhood, a significant increase in life expectancy has been observed [10][11][12]. Benzodiazepines, neuroleptics, antidepressants, chloralhydrates, and anticonvulsive drugs have also been proposed to control SIB [13,14].…”

Section: Introductionmentioning

confidence: 99%

Management and Prevention of Oral Self-Injuries in Lesch–Nyhan Syndrome

Caserta

Defabianis

2018

Reports

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Lesch-Nyhan syndrome (LNS) is a rare X-linked recessive disorder with an incidence of 1/100,000-380,000 live births. It is characterized by neurological manifestations, including symptoms of compulsive self-mutilation, which result in the destruction of oral and perioral tissues. This report describes a case of a four-year-old boy diagnosed with LNS, who was referred for evaluation and treatment of self-injury behaviour (SIB). The parents requested the prevention of self-mutilation of the lower lip and tongue by the child's own teeth. After a thorough discussion with the parents, it was agreed that a conservative approach, avoiding extraction, should be followed initially. A removable dental appliance was fabricated. The parents were instructed and trained about insertion, removal, and cleaning of the appliance. The child was re-examined after one week: biting of the lips and tongue improved immediately after the insertion of the appliances. Initial healing of the lesion was observed. After two and four weeks, positive results were seen. The lesion had resolved completely. In conclusion, appropriate preventive methods have to be developed for each individual patient on the basis of the observation of each single case. Oral appliances represent a conservative solution for SIB and an alternative to more invasive approaches. They can be the initial solution for the management of oral self-injury in LNS patients.

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Treatment of X-Linked Primary Hyperuricemia With Allopurinol

Cited by 21 publications

References 8 publications

Lesch–Nyhan syndrome: a preventive approach to self‐mutilation

Lesch–Nyhan syndrome: a preventive approach to self‐mutilation

Oral Self-Mutilation in Lesch–Nyhan Patients: A Cross-Sectional Study

Management and Prevention of Oral Self-Injuries in Lesch–Nyhan Syndrome

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