Consequences of Delayed Dental Extraction in Lesch‐Nyhan Disease

Goodman, Emily M.; Torres, Rosa J.; Puig, Juan; Jinnah, Hyder A.

doi:10.1002/mdc3.12040

Cited by 20 publications

(10 citation statements)

References 27 publications

(59 reference statements)

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“…Sharp objects are avoided from the surroundings, and upper limb extension orthosis is used to avoid biting their fingers. In addition, it is not uncommon for patients to feel at ease by creating lip guards and masks to protect the oral cavity, and SIB gradually disappears 5,10,11) . If the SIB does not improve after the aforementioned methods, tooth extraction may be considered as the last resort.…”

Section: Sib Correspondencementioning

confidence: 99%

Infectious Endocarditis Derived from a Tongue Ulcer Caused by Self-injurious Behavior in Lesch-Nyhan Syndrome Which Required Total Teeth Extraction and Glossectomy

Matsubara

Kamochi

Ema

et al. 2021

International Journal of Surgical Wound Care

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Lesch-Nyhan syndrome (LNS) is an X-linked recessive disorder with no racial differences. It occurs in approximately 1 in 100,000 male births, but there are few reports of its occurrence in girls 1) . This is attributed to a single congenital deficiency of the hypoxanthine-guanine phosphoribosyltransferase (HPRT). Most patients die by the age of 40 years due to renal failure or respiratory complications 2,3) . The main symptoms are hyperuricemia, involuntary movements, psychomotor retardation, and self-injurious behavior (SIB) 4) . It is often difficult to control SIB, which is a characteristic symptom of this disease. Although patients appear to develop normally for some time after birth, psychomotor retardation may occur as early as several months after birth, and SIB may appear at around one year of age and may persist into adolescence. Bites on the tongue, lips, and fingers are often a problem, and sometimes tissue loss, insufficiency, or complete amputation may occur 5) . Generally, medicine or orthosis is created to control it. However, when ineffective, surgical treatment is required. We encountered a case in which the tongue and lip ulceration were caused by SIB, which became a gateway to invasion and infective endocarditis (IE). IE is a fatal condition, and considering the possibility of recurrence, total tooth extraction and tongue reduction were performed. There have been no reports of cases of IE developing from SIB in the past. We report the case including a review of the literature.

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Section: Sib Correspondencementioning

confidence: 99%

Infectious Endocarditis Derived from a Tongue Ulcer Caused by Self-injurious Behavior in Lesch-Nyhan Syndrome Which Required Total Teeth Extraction and Glossectomy

Matsubara

Kamochi

Ema

et al. 2021

International Journal of Surgical Wound Care

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“…Devices to control the hands and bites to avoid bite injuries are also recommended. From the dental point of view, a review of the literature shows very few articles related to LNS, with no scientific protocols or guidelines, and only a few case reports describing the use of mouthguards or tooth extractions [8][9][10][11][12][13]. The Department of Pediatric Dentistry of "Sapienza" University of Rome is a reference center of national relevance for the dental treatment in children [14].…”

Section: Introductionmentioning

confidence: 99%

Lesch-Nyhan Syndrome: Evaluation of a Modified Bite Device to Prevent Bite Injuries

Ierardo¹,

Luzzi²,

Sfasciotti³

et al. 2020

Applied Sciences

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Lesch-Nyhan syndrome (LNS) is a serious form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary purine metabolism disorder. The prevalence reported in the literature is 1/380,000 to 235,000 births. Males are affected and females are heterozygous carriers. LNS patients present a combination of hypotonia, spasticity, and neurological and behavioral disorders. They also show an obsessive-compulsive self-injurious behavior with bites and injuries to the lips, tongue, cheeks and fingers. The literature offers little scientific contribution related to the management of this problem. The authors describe their experience with a 4-year-old LNS patient and present a viable solution to control and avoid bite injuries, namely a specifically modified bite. The patient was treated at the Pediatric Dentistry Department of “Sapienza” University of Rome with a modified bite with the internal surface, in contact with the teeth, realized in 2-mm-thick soft silicone, and the exterior part consisting of a transparent resin shell with front and rear shields to separate lips and cheeks from the dental arches. At a 12-month follow-up visit, compliance was excellent: the child wore the device with regularity and without discomfort, even during soft-food feeding. No intraoral bite injuries were found, with a general improvement of the young patient’s quality of life.

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“…If untreated, it can lead to self-amputation of digits, serious facial or tongue disfigurement, or life-threatening infections. Experts in pediatrics often recommend a drastic treatment approach that involves tooth extraction, because it is the only reliable means of controlling the behavior (Goodman et al 2014). On the other hand, dental experts prefer avoiding the permanent cosmetic consequences of tooth removal in a child and recommend various oral appliances such as tooth guards or lip protectors (Limeres et al 2012).…”

Section: Introductionmentioning

confidence: 99%

Expert Opinion vs Patient Perspective in Treatment of Rare Disorders: Tooth Removal in Lesch-Nyhan Disease as an Example

2017

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Treatment recommendations for rare disorders often are limited by a lack of data from objective clinical trials. As a result, recommendations are often based on expert opinion. Because expert opinions sometimes conflict, many patients turn to the Internet for guidance from others who may have tried a treatment. The increasing numbers of patients and families who post opinions regarding outcomes allow for systematic data collection regarding specific treatments from the patient perspective. We used social media research methods to determine the opinions of family members or other caregivers regarding permanent removal of teeth for treatment of self-injurious biting (SIB) in patients with Lesch-Nyhan disease (LND), a particularly difficult treatment decision where expert opinion is divided. A content analysis of social media postings was used to systematically interpret caregiver posts about tooth extraction from families and other caregivers of patients with LND who posted comments regarding physical or emotional well-being after tooth extraction. A scale was used to rate all posted opinions. Scores ranged from 1 to 5, with 1 being completely negative and 5 being completely positive. 170 comments from 46 unique individuals were collected and scored by two raters. Inter-rater reliability, determined using a correlation coefficient across all postings, was 0.85, suggesting a high degree of reliability. The overall average caregiver sentiment score was 4.86, which is an overwhelmingly positive endorsement of tooth extraction as a means for controlling SIB. These methods provide a simple strategy for recommending treatment strategies based on real-world experience when objective clinical trials are unviable.

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Consequences of Delayed Dental Extraction in Lesch‐Nyhan Disease

Cited by 20 publications

References 27 publications

Infectious Endocarditis Derived from a Tongue Ulcer Caused by Self-injurious Behavior in Lesch-Nyhan Syndrome Which Required Total Teeth Extraction and Glossectomy

Infectious Endocarditis Derived from a Tongue Ulcer Caused by Self-injurious Behavior in Lesch-Nyhan Syndrome Which Required Total Teeth Extraction and Glossectomy

Lesch-Nyhan Syndrome: Evaluation of a Modified Bite Device to Prevent Bite Injuries

Expert Opinion vs Patient Perspective in Treatment of Rare Disorders: Tooth Removal in Lesch-Nyhan Disease as an Example

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