Case of Self-Mutilation –Lesch-Nyhan Syndrome
Journal of College of Medical Sciences-Nepal, 2022 Lesch-Nyhan syndrome involves a congenital error of purine metabolism, due to the absence (or very low levels) of hypoxanthine-guanine phosphoribosyltransferase (HPRT) enzyme. The classic clinical phenotype of LNS was first described by Michael Lesch and
Sweta Gupta +3 more
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Striatal neurodevelopment is dysregulated in purine metabolism deficiency and impacts DARPP-32, BDNF/TrkB expression and signaling: new insights on the molecular and cellular basis of Lesch-Nyhan Syndrome. [PDF]
PLoS One, 2014 Lesch-Nyhan Syndrome (LNS) is a neurodevelopmental disorder caused by mutations in the gene encoding the purine metabolic enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT).
Guibinga GH, Barron N, Pandori W.
europepmc +4 more sources
The Role of Video-EEG Monitoring in Lesch-Nyhan Syndrome. [PDF]
Maedica (Bucur), 2023 Introduction: Lesch-Nyhan syndrome (LNS) is a rare genetic disease secondary to a HPRT1 mutation on chromosome X. It is characterized by dystonia, developmental delay, hyperuricemia and self-harming behaviours. The HPRT enzyme is implicated in the purine
Roza E, Baloi AD, Plaiasu V, Teleanu RI.
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A rare case of Lesch-Nyhan syndrome in adulthood [PDF]
Lesch-Nyhan syndrome (LNS) is a rare X-linked recessive disorder characterized by hyperuricemia, neurodevelopmental delay, self-mutilation, and gouty arthritis.
Shafique, Hira, Zafar, Sharjeel
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Single-Electrode Deep Brain Stimulation of Bilateral Posterolateral Globus Pallidus Internus in Patients With Medically Resistant Lesch-Nyhan Syndrome. [PDF]
Cureus, 2023 Deep brain stimulation (DBS) targeting various locations within the globus pallidus internus (GPi) is emerging as a therapeutic option for patients with medically resistant Lesch-Nyhan syndrome.
Baird-Daniel E +4 more
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Nonspecific osteomyelitis of the spine (NOS) in a patient with primary gout due to Lesch–Nyhan syndrome (LNS): case description and literature review [PDF]
Гений oртопедии, 2020 Introduction Lesions of the spine due to gout are rare types of seronegative spondyloarthritis. The article provides a review of the literature of primary and secondary types of gouty spondyloaritritis and presents a clinical example of nonspecific ...
Arkadii A. Vishnevskii +1 more
doaj +2 more sources
Ethical implications of early genetic diagnosis in an infant with Lesch-Nyhan syndrome. [PDF]
J Genet Couns, 2022 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.
Zhang T +4 more
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Which neurodevelopmental disorders get researched and why? [PDF]
PLoS ONE, 2010 AIM: There are substantial differences in the amount of research concerned with different disorders. This paper considers why. METHODS: Bibliographic searches were conducted to identify publications (1985-2009) concerned with 35 neurodevelopmental ...
Bishop, Dorothy
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Self-mutilation in the Lesch–Nyhan syndrome [PDF]
Neurology, 2005 Over the last few years, this 12-year-old boy had chewed off his lips and tongue, bitten his left arm, and eroded his nose by rubbing it on the floor …
Boby Varkey Maramattom
openaire +4 more sources
Recurrent Xanthine Stones in a Young Patient with Lesch-Nyhan Syndrome. [PDF]
J Endourol Case Rep, 2020 Background: Lesch-Nyhan syndrome results from a rare X-linked inborn error of metabolism leading to a total body accumulation of uric acid. Clinical manifestations include self-mutilating behavior, poor muscle control, intellectual disability, gout, and ...
Meagher MF, Bechis SK.
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