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Clinical Features of the Lesch-Nyhan Syndrome
Archives of Internal Medicine, 1972Lesch-Nyhan syndrome is characterized clinically by mental retardation, choreoathetosis, spastic cerebral palsy, and aggressive, self-mutilating behavior. It is transmitted as an X-linked excessive character in which the primary expression of the mutant gene is in the activity of the enzyme hypoxanthine guanine phosphoribosyltransferase (HGPRT ...
W. Nyhan
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[Genetic analysis of a Chinese pedigree with Lesch-Nyhan syndrome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2023OBJECTIVE To explore the genetic etiology for a Chinese pedigree affected with Lesch-Nyhan syndrome. METHODS Members of the pedigree who had visited the Genetic Counseling Clinic of Linyi People's Hospital on February 10, 2022 were selected as the ...
Dujuan Wang +5 more
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Urology, 1982
Three cases of severe involvement of the kidney with calculi in patients with the Lesch-Nyhan syndrome are presented. Two patients have radiolucent uric acid calculi. The biochemistry and pathology of the Lesch-Nyhan syndrome is discussed. Mechanisms in one family is traced over five generations.
Robert H. Steadman +2 more
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Three cases of severe involvement of the kidney with calculi in patients with the Lesch-Nyhan syndrome are presented. Two patients have radiolucent uric acid calculi. The biochemistry and pathology of the Lesch-Nyhan syndrome is discussed. Mechanisms in one family is traced over five generations.
Robert H. Steadman +2 more
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Journal of Pediatric Rehabilitation Medicine, 2021
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
C. Gilbert +2 more
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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
C. Gilbert +2 more
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Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2022
OBJECTIVE To carry out genetic testing and prenatal diagnosis for a Chinese pedigree with Lesch-Nyhan syndrome (LNS) but no specimen from the affected probands.
Ming Tong +4 more
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OBJECTIVE To carry out genetic testing and prenatal diagnosis for a Chinese pedigree with Lesch-Nyhan syndrome (LNS) but no specimen from the affected probands.
Ming Tong +4 more
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Cerebral Venous Sinus Thrombosis in a Child with Lesch–Nyhan Syndrome
Neurology India, 2021Lesch–Nyhan syndrome is a rare neurometabolic condition characterized by progressive choreoathetosis, intellectual disability, and peculiar manifestations like self-mutilation. Occasional case reports in adults have suggested an association between Lesch–
R. Manokaran +5 more
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Neuromodulation (Malden, Mass.), 2020
Lesch–Nyhan syndrome (LNS) is a rare genetic disorder characterized by a deficiency of hypoxanthine‐guanine phosphoribosyltransferase enzyme. It manifests during infancy with compulsive self‐mutilation behavior associated with disabling generalized ...
K. Tambirajoo +7 more
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Lesch–Nyhan syndrome (LNS) is a rare genetic disorder characterized by a deficiency of hypoxanthine‐guanine phosphoribosyltransferase enzyme. It manifests during infancy with compulsive self‐mutilation behavior associated with disabling generalized ...
K. Tambirajoo +7 more
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Disassembly of microtubules in the lesch-nyhan syndrome? [PDF]
Klinische Wochenschrift, 1979 The Lesch-Nyhan syndrome is an unusual disease. It combines neurological disorders, behavioural disturbances, metabolic changes and haematological symptoms. The syndrome is caused by an X-chromosomal transmitted enzyme deficiency of the 'salvage pathway' in purine metabolism.
E. Morgenstern +2 more
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GROWTH RETARDATION IN THE LESCH-NYHAN SYNDROME [PDF]
Acta Endocrinologica, 1974 ABSTRACT The Lesch-Nyhan syndrome is an inherited neurologic disorder due to deficiency of hypoxanthine-guanine phosphoribosyl transferase and characterized clinically by self-mutilation, choreoathetosis, spasticity and mental retardation. This study demonstrates that these patients have significant growth retardation similar to that observed ...
Francis A. Neelon +4 more
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