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Article: Lesch-Nyhan Syndrome: Disorder of Self-mutilating Behavior.

Jathar, Prasad / Panse, Amey M / Jathar, Madhura / Gawali, Pritesh N

International journal of clinical pediatric dentistry

2016 Volume 9, Issue 2, Page(s) 139–142

Abstract: ... this article: Jathar P, Panse AM, Jathar M, Gawali PN. Lesch-Nyhan Syndrome: Disorder of Self-mutilating ... Lesch-Nyhan syndrome (LNS), a rare inborn error of metabolism, is characterized ... by self-injurious behavior, which results in partial or total destruction of oral and perioral tissues and/ or fingers ...

Abstract	Lesch-Nyhan syndrome (LNS), a rare inborn error of metabolism, is characterized by self-injurious behavior, which results in partial or total destruction of oral and perioral tissues and/ or fingers. Persistent self-injurious behavior (biting the fingers, hands, lips, and cheeks; banging the head or limbs) is a hallmark of the disease. Prevention of self-mutilation raises significant difficulties. A case of a 10-month-old boy with aggressive behavior and severe lower lip injuries is presented. How to cite this article: Jathar P, Panse AM, Jathar M, Gawali PN. Lesch-Nyhan Syndrome: Disorder of Self-mutilating Behavior. Int J Clin Pediatr Dent 2016;9(2):139-142.
Language	English
Publishing date	2016-06-15
Publishing country	India
Document type	Case Reports
ISSN	0974-7052
ISSN	0974-7052
DOI	10.5005/jp-journals-10005-1350
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article ; Online: Ethical implications of early genetic diagnosis in an infant with Lesch-Nyhan syndrome.

Zhang, Tian / Briere, Julie M / Leeman, Kristen T / Wojcik, Monica H / Agrawal, Pankaj B

Journal of genetic counseling

2022 Volume 31, Issue 6, Page(s) 1434–1437

Abstract: ... and are responsible for a spectrum of disorders. The severe phenotype is termed Lesch-Nyhan syndrome ... intellectual and physical disabilities throughout life including self-mutilating behaviors. Here, we present ...

Abstract	Pathogenic variants in HPRT1 lead to deficiency in hypoxanthine-guanine phosphoribosyltransferase and are responsible for a spectrum of disorders. The severe phenotype is termed Lesch-Nyhan syndrome (LNS) and is inherited in an X-linked recessive manner. Most individuals with LNS have profound intellectual and physical disabilities throughout life including self-mutilating behaviors. Here, we present the case of a male infant who was diagnosed with LNS at 3 weeks of age via rapid exome sequencing (ES), which revealed a hemizygous maternally inherited deletion of at least 1.3 Mb of Xq26.3, including exons 2 to 9 of HPRT1. We discuss the critical time points leading to this diagnosis while highlighting his parents' values that guided the decision-making. Genetic testing provided an early diagnosis for this infant that led to important considerations regarding goals of care in addition to raising new ethical concerns. This highlights the important role that early and rapid diagnostic genetic testing can play in helping families make difficult decisions. Additionally, this case highlights the complexity of discussing rare genetic diagnoses with families and facilitating critical discussions to empower the family toward making an informed decision.
MeSH term(s)	Male ; Humans ; Lesch-Nyhan Syndrome/diagnosis ; Lesch-Nyhan Syndrome/genetics ; Hypoxanthine Phosphoribosyltransferase/genetics ; Exons ; Phenotype ; Early Diagnosis
Chemical Substances	Hypoxanthine Phosphoribosyltransferase (EC 2.4.2.8)
Language	English
Publishing date	2022-08-02
Publishing country	United States
Document type	Case Reports ; Research Support, N.I.H., Extramural
ZDB-ID	1117799-8
ISSN	1573-3599 ; 1059-7700
ISSN (online)	1573-3599
ISSN	1059-7700
DOI	10.1002/jgc4.1616
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Article ; Online: Oral self-mutilation in Lesch-Nyhan Syndrome. Case Report.

Campolo González, Andrés / Vargas Díaz, Alex / Fontboté Riesco, Daniel / Hernández Chávez, Marta

Revista chilena de pediatria

2018 Volume 89, Issue 1, Page(s) 86–91

Abstract: Introduction: Lesch-Nyhan syndrome (LNS) is an inherited recessive X-related disorder caused ... a clinical case of LNS and describe pediatric dentistry management in patients with self-mutilating behavior ... by the deficiency of the enzyme hypoxanthin-guanine phosphorribosyl transferase (HPRT). Compul sive self ...

Title translation	Síndrome de Lesch-Nyhan y automutilación oral. Reporte de un caso.
Abstract	Introduction: Lesch-Nyhan syndrome (LNS) is an inherited recessive X-related disorder caused by the deficiency of the enzyme hypoxanthin-guanine phosphorribosyl transferase (HPRT). Compul sive self-mutilation and dystonia occurs before the first year of age and is expressed by persistent bites on the oral mucosa, lips, tongue, fingers, and shoulders. The dental intervention performed on most of these patients is multiple tooth extraction to prevent serious secondary lesions. Objective: To present a clinical case of LNS and describe pediatric dentistry management in patients with self-mutilating behavior. Clinical case: Male patient, 7 years old, LNS carrier. He was referred to the Dental Unit from the Department of Pediatric Neurology for evaluation and management of self-inflicted wounds on fingers, lips and cheeks associated with weight loss and decreased food intake. The surgical procedure consisted of multiple extractions, surgical remodeling of the residual alveolar ridges under general anesthesia. In the second postoperative month, the patient was discharged definitively, with an adequate nutritional status and no signs of self-mutilation in hands or oral cavity. Conclusions: Although LNS is rare, it is essential to know how to proceed in order to provide the best quality of life for patients and their families. Early tooth extractions, as an initial phase in severe cases, seem to be the most useful alternative to minimize damage.
MeSH term(s)	Child ; Humans ; Lesch-Nyhan Syndrome/psychology ; Male ; Self-Injurious Behavior/etiology ; Self-Injurious Behavior/surgery ; Tooth Extraction
Language	Spanish
Publishing date	2018-02
Publishing country	Chile
Document type	Case Reports ; Journal Article
ZDB-ID	954077-5
ISSN	0717-6228 ; 0034-7396 ; 0370-4106
ISSN (online)	0717-6228
ISSN	0034-7396 ; 0370-4106
DOI	10.4067/S0370-41062018000100086
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Article ; Online: Reduction of self-mutilating behavior and improved oromotor function in a patient with Lesch-Nyhan syndrome following botulinum toxin injection: A case report.

Gilbert, Courtney / Sauer, Michelle / Cheng, JenFu

Journal of pediatric rehabilitation medicine

2021 Volume 14, Issue 1, Page(s) 133–136

Abstract: ... behavior. This case report describes a 13-year-old boy with Lesch-Nyhan syndrome and self-mutilating ... Lesch-Nyhan syndrome is a genetic metabolic disorder often involving dystonia and self-mutilating ... to improve oromotor function and reduce self-mutilating behaviors in children with Lesch-Nyhan syndrome ...

Abstract	Lesch-Nyhan syndrome is a genetic metabolic disorder often involving dystonia and self-mutilating behavior. This case report describes a 13-year-old boy with Lesch-Nyhan syndrome and self-mutilating behavior who received botulinum toxin injections to his bilateral masseter muscles after failing multiple other treatments. Following injections, the patient had reduction in self-biting, along with improvements in speech, mastication and feeding observed in speech therapy. Botulinum toxin injections to the masseters may help to improve oromotor function and reduce self-mutilating behaviors in children with Lesch-Nyhan syndrome who have failed more conservative treatments, providing opportunity for improved functional status and patient safety. Further investigation is indicated to establish optimal dosing. Additionally, the mechanism for the reduction of self-mutilating behavior is unclear and justifies additional investigation.
MeSH term(s)	Adolescent ; Botulinum Toxins ; Child ; Dystonia ; Humans ; Lesch-Nyhan Syndrome ; Male ; Self Mutilation/drug therapy ; Self Mutilation/etiology
Chemical Substances	Botulinum Toxins (EC 3.4.24.69)
Language	English
Publishing date	2021-03-15
Publishing country	Netherlands
Document type	Case Reports ; Journal Article
ZDB-ID	2403637-7
ISSN	1875-8894 ; 1874-5393
ISSN (online)	1875-8894
ISSN	1874-5393
DOI	10.3233/PRM-200729
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Article ; Online: Lesch-Nyhan Syndrome

Mrinal Gupta / Vikram K. Mahajan / Vikas Sharma / Pushpinder S. Chauhan / Karaninder S. Mehta

Our Dermatology Online, Vol 5, Iss 1, Pp 65-

a rare disorder of self-mutilating behavior

2014 Volume 67

Abstract: ... self-mutilating behavior, neurological features and abnormal urine uric acid: creatinine ratio. The basic defect ... This paper describes Lesch-Nyhan syndrome in a 1-year-old boy. This X-linked recessive error ...

Abstract	This paper describes Lesch-Nyhan syndrome in a 1-year-old boy. This X-linked recessive error of purine metabolism presents in infancy with a constellation of mental and developmental retardation, self-mutilating behavior, neurological features and abnormal urine uric acid: creatinine ratio. The basic defect is deficiency in phosphoribosyl transferase production but exact pathomechanism for clinical symptomatology remains un-elucidated. No specific medical treatment is available.
Keywords	Dysarthria ; Hyperuricemia ; Hypoxanthine-guanine phosphoribosyl transferase ; Inborn Errors ; Metabolism Inborn Errors ; Purine metabolism ; Self-mutilating behavior ; Dermatology ; RL1-803 ; Medicine ; R ; DOAJ:Dermatology ; DOAJ:Medicine (General) ; DOAJ:Health Sciences
Language	English
Publishing date	2014-01-01T00:00:00Z
Publisher	Our Dermatology Online
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Lateralized effect of pallidal stimulation on self-mutilation in Lesch-Nyhan disease.

Abel, Taylor J / Dalm, Brian D / Grossbach, Andrew J / Jackson, Adam W / Thomsen, Teri / Greenlee, Jeremy D W

Journal of neurosurgery. Pediatrics

2014 Volume 14, Issue 6, Page(s) 594–597

Abstract: ... for the treatment of generalized dystonia. His self-mutilating behavior gradually disappeared several weeks after ... the start of GPi stimulation. The dystonia and self-mutilating behavior returned on the left side only after ... Lesch-Nyhan disease (LND) is an X-linked hereditary disorder caused by a deficiency ...

Abstract	Lesch-Nyhan disease (LND) is an X-linked hereditary disorder caused by a deficiency of hypoxanthine-guanine phosphoribosyltransferase. This syndrome is characterized by hyperuricemia, self-mutilation, cognitive impairment, and movement disorders such as spasticity and dystonia. The authors describe the case of a 15-year-old boy who underwent bilateral placement of globus pallidus internus (GPi) deep brain stimulation (DBS) electrodes for the treatment of generalized dystonia. His self-mutilating behavior gradually disappeared several weeks after the start of GPi stimulation. The dystonia and self-mutilating behavior returned on the left side only after a right lead fracture. This case is the first reported instance of LND treated with DBS in which the stimulation was interrupted and the self-mutilation returned in a lateralized fashion. The findings indicate that the neurobehavioral aspect of LND is lateralized and that contralateral GPi stimulation is responsible for lateralized improvement in self-injurious behavior.
MeSH term(s)	Accidental Falls ; Adolescent ; Deep Brain Stimulation/instrumentation ; Deep Brain Stimulation/methods ; Dystonia/etiology ; Dystonia/genetics ; Dystonia/physiopathology ; Dystonia/therapy ; Electrodes, Implanted ; Equipment Failure ; Functional Laterality ; Globus Pallidus/physiopathology ; Humans ; Lesch-Nyhan Syndrome/complications ; Lesch-Nyhan Syndrome/genetics ; Lesch-Nyhan Syndrome/physiopathology ; Male ; Self-Injurious Behavior/etiology ; Self-Injurious Behavior/genetics ; Self-Injurious Behavior/physiopathology ; Self-Injurious Behavior/therapy ; Treatment Outcome
Language	English
Publishing date	2014-12
Publishing country	United States
Document type	Case Reports ; Journal Article
ZDB-ID	2403985-8
ISSN	1933-0715 ; 1933-0707
ISSN (online)	1933-0715
ISSN	1933-0707
DOI	10.3171/2014.8.PEDS1451
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Article: A modified intraoral resin mouthguard to prevent self-mutilations in lesch-nyhan patients.

Ragazzini, Giulia / Delucchi, Alessia / Calcagno, Enrico / Servetto, Roberto / Denotti, Gloria

International journal of dentistry

2014 Volume 2014, Page(s) 396830

Abstract: Lesch-Nyhan syndrome, described in 1964 by Lesch and Nyhan, is a X-linked recessive disorder ... of the self-mutilating behavior, because the teeth represent the main self-injury instrument. This report presents ... self-mutilation, and mental retardation clinically characterize this syndrome. In LNS patients the typical feature ...

Abstract	Lesch-Nyhan syndrome, described in 1964 by Lesch and Nyhan, is a X-linked recessive disorder, occurring in 1 : 100000 to 1 : 380000 live births. LNS is characterized by a decrease in activity of hypoxanthine guanine phosphoribosyl transferase, an enzyme involved in purine metabolism, resulting in overproduction of uric acid. Hyperuricemia and neurological features including choreoathetoid spasticity, self-mutilation, and mental retardation clinically characterize this syndrome. In LNS patients the typical feature is loss of tissue from biting themselves with partial or complete amputation of fingers, lips, and tongue. The self-mutilation compares with the eruption of the deciduous teeth. Several drugs trials have been administered to improve self-destructive behavior and invasive treatment approaches, such as extractions of teeth and orthognathic surgery, have been suggested with variable effectiveness. Nowadays prevention is, therefore, the standard of care. The role of dentistry is essential in the management of the self-mutilating behavior, because the teeth represent the main self-injury instrument. This report presents a revision of various therapeutic approaches to manage self-destruction, highlighting the effectiveness of a preventive treatment. It describes a new technique: a resin mouthguard, realized at Gaslini Hospital, to obtain immediate healing of the oral lesions, confirmed in the follow-up period.
Language	English
Publishing date	2014-07-02
Publishing country	Egypt
Document type	Journal Article
ZDB-ID	2546524-7
ISSN	1687-8736 ; 1687-8728
ISSN (online)	1687-8736
ISSN	1687-8728
DOI	10.1155/2014/396830
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Article ; Online: Botulinum toxin: treatment of self-mutilation in patients with Lesch-Nyhan syndrome.

Gutierrez, Cristiam / Pellene, Alejandro / Micheli, Federico

Clinical neuropharmacology

2008 Volume 31, Issue 3, Page(s) 180–183

Abstract: Lesch-Nyhan syndrome (LNS) is a rare X-linked recessive disorder involving purine metabolism caused ... The mechanism behind this severe self-mutilating behavior is unknown, and is one of the main challenges ... approach in patients with self-abusive behavior. ...

Abstract	Lesch-Nyhan syndrome (LNS) is a rare X-linked recessive disorder involving purine metabolism caused by the congenital absence of hypoxanthine guanine phosphoribosyl transferase. A characteristic feature of LNS is the appearance of intractable self-injurious behavior, usually in the form of severe lip and finger biting. The mechanism behind this severe self-mutilating behavior is unknown, and is one of the main challenges in the management of this condition. We here report the case of a 30-year-old man with a confirmed diagnosis of LNS who was successfully treated for self-mutilation of his lips with repeated botulinum toxin A (BTX-A) injections in the facial perioral muscles. Our findings suggest that treatment with BTX-A helped reduce self-abusive behavior in this patient. Our case illustrates that BTX-A injections can be a useful therapeutic approach in patients with self-abusive behavior.
MeSH term(s)	Adult ; Anti-Dyskinesia Agents/therapeutic use ; Botulinum Toxins/therapeutic use ; Face ; Humans ; Injections, Intramuscular ; Lesch-Nyhan Syndrome/complications ; Lip/injuries ; Male ; Self Mutilation/drug therapy ; Self Mutilation/etiology ; Treatment Outcome ; Wound Healing
Chemical Substances	Anti-Dyskinesia Agents ; Botulinum Toxins (EC 3.4.24.69)
Language	English
Publishing date	2008-05
Publishing country	United States
Document type	Case Reports ; Journal Article
ZDB-ID	199293-4
ISSN	1537-162X ; 0362-5664
ISSN (online)	1537-162X
ISSN	0362-5664
DOI	10.1097/WNF.0b013e31814a62cc
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Article: Botulinum toxin as a novel treatment for self-mutilation in Lesch-Nyhan syndrome.

Dabrowski, Edward / Smathers, Sarah A / Ralstrom, Curt S / Nigro, Michael A / Leleszi, Jimmie P

Developmental medicine and child neurology

2005 Volume 47, Issue 9, Page(s) 636–639

Abstract: Lesch-Nyhan syndrome (LNS) is an X-linked recessive disorder resulting from a deficiency ... spastic cerebral palsy (CP), dystonia, and self-mutilation. The mechanism behind the severe self-mutilating behavior ... peripheral nervous systems, resulting in reduced self-abusive behavior in this patient. ...

Abstract	Lesch-Nyhan syndrome (LNS) is an X-linked recessive disorder resulting from a deficiency of the metabolic enzyme hypozanthine-guanine phosphoribosyltransferase (HPRT). This syndrome presents with abnormal metabolic and neurological manifestations including hyperuricemia, mental retardation*, spastic cerebral palsy (CP), dystonia, and self-mutilation. The mechanism behind the severe self-mutilating behavior exhibited by patients with LNS is unknown and remains one of the greatest obstacles in providing care to these patients. This report describes a 10-year-old male child with confirmed LNS who was treated for self-mutilation of his hands, tongue, and lips with repeated botulinum toxin A (BTX-A) injections into the bilateral masseters. Our findings suggest that treatment with BTX-A affects both the central and peripheral nervous systems, resulting in reduced self-abusive behavior in this patient.
MeSH term(s)	Botulinum Toxins, Type A/administration & dosage ; Child ; Hand Injuries/diagnosis ; Hand Injuries/drug therapy ; Humans ; Injections, Intramuscular ; Lesch-Nyhan Syndrome/complications ; Lesch-Nyhan Syndrome/diagnosis ; Lip/injuries ; Male ; Masseter Muscle/drug effects ; Retreatment ; Self Mutilation/diagnosis ; Self Mutilation/drug therapy ; Tongue/injuries ; Wound Healing/drug effects
Chemical Substances	Botulinum Toxins, Type A (EC 3.4.24.69)
Language	English
Publishing date	2005-09
Publishing country	England
Document type	Case Reports ; Journal Article
ZDB-ID	80369-8
ISSN	1469-8749 ; 0012-1622
ISSN (online)	1469-8749
ISSN	0012-1622
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Article: Electrophysiological characteristics of limbic and motor globus pallidus internus (GPI) neurons in two cases of Lesch-Nyhan syndrome.

Pralong, E / Pollo, C / Coubes, P / Bloch, J / Roulet, E / Tétreault, M-H / Debatisse, D / Villemure, J-G

Neurophysiologie clinique = Clinical neurophysiology

2005 Volume 35, Issue 5-6, Page(s) 168–173

Abstract: ... that the symptoms that are observed in Lesch-Nyhan syndrome might result from motor GPI inhibition.: Significance ... self-mutilating behavior. In order to shed light on the pathophysiology of dystonia, we report the pallidal ... Objective: Lesch-Nyhan syndrome is a rare and debilitating condition characterized by dystonia and ...

Abstract	Objective: Lesch-Nyhan syndrome is a rare and debilitating condition characterized by dystonia and self-mutilating behavior. In order to shed light on the pathophysiology of dystonia, we report the pallidal electrophysiological activity recorded in two patients during deep brain stimulation surgery (DBS). Methods: Microrecordings were performed on 162 neurons along four tracks aimed at the right and left anterior (limbic) and posterior (motor) globus pallidus internus (GPI). Results: Regardless of the anesthetic agent used (propofol or sevoflurane), both patients showed similar neurons firing rates in the four regions studied, namely the limbic and motor portions of the globus pallidus externus (GPE) or GPI. In both patients, firing rates were similar in the GPE (12.2+/-1.8 Hz, N=38) and GPI (13.2+/-1.0 Hz, N=83) portions of the limbic track, while the motor GPE fired at a higher frequency (23.8+/-2.7 Hz, N=18) than the motor GPI (12.5+/-1.4 Hz, N=23). Conclusions: These results demonstrate that light propofol or sevoflurane anesthesia influences pallidal activity in a similar way. Electrophysiological recordings suggest that Lesch-Nyhan syndrome might be characterized by analogous firing frequencies in the limbic GPE and GPI while motor GPE would tend to fire at higher rate than the motor GPI. It is therefore tempting to suggest that the symptoms that are observed in Lesch-Nyhan syndrome might result from motor GPI inhibition. Significance: This observation may confirm the Albin and Delong's model of the basal nuclei in hypokinetic and hyperkinetic disorders.
MeSH term(s)	Child ; Electric Stimulation Therapy ; Electrophysiology/methods ; Globus Pallidus/physiopathology ; Humans ; Hypoxanthine Phosphoribosyltransferase/deficiency ; Lesch-Nyhan Syndrome/physiopathology ; Limbic System/physiopathology ; Motor Neurons/physiology ; Sleep/physiology
Chemical Substances	Hypoxanthine Phosphoribosyltransferase (EC 2.4.2.8)
Language	English
Publishing date	2005-11
Publishing country	France
Document type	Case Reports ; Journal Article
ZDB-ID	639421-8
ISSN	1769-7131 ; 0987-7053
ISSN (online)	1769-7131
ISSN	0987-7053
DOI	10.1016/j.neucli.2005.12.004
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