Results 31 to 40 of about 1,232,023 (188)
Anaesthetic management of a child with Lesch Nyhan syndrome [PDF]
Indian Journal of Anaesthesia, 2019 Shraya Banerjee +3 more
doaj +2 more sources
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 Kumari Gupta +3 more
doaj +1 more source
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
Courtney Gilbert +2 more
doaj +1 more source
Identification of a new lesch-nyhan syndrome mutation (HPRT BRASIL) and analysis of potentially heterozygous females [PDF]
Arquivos de Neuro-Psiquiatria, 1999 The mutation in the hypoxanthine-guanine phosphoribosyltransferase (HPRT) gene has been determined in two brothers affected with Lesch-Nyhan syndrome. Female members of the family who are at risk for being heterozygous carriers of the HPRT mutation were ...
PATRICK O'NEILL +10 more
doaj +1 more source
LESCH-NYHAN SYNDROME – late diagnosis of rare disease: clinical case
Journal of V. N. Karazin Kharkiv National University: Series Medicine, 2021 Background. Lesch-Nyhan syndrome is inherent X-linked recessive genetic disorder with decreased activity of hypoxanthine-guanine phosphoribosyltransferase (HGPRT).
Oleksii Khaniukov +7 more
doaj +1 more source
Paths to functional communication of children with developmental anarthria - case reports
Listy klinicke logopedie, 2022 We introduce the application of alternative and augmentative communication aids in children with combined disabilities and symptomatic speech disorders.
Milada Janoušková +2 more
doaj +1 more source
Lesch-Nyhan syndrome: case brief of a rare disease [PDF]
, 2018 Lesch-Nyhan Syndrome is a rare X- linked disease due to absence of HPRT enzyme. It leads to hyperuricemia, gout, renal failure, neurological and behavioural disorders, including compulsive self-mutilation. Management includes drugs against hyperuricemia,
Satapathy, Jagatshreya +1 more
core +1 more source
Inborn Errors of Metabolism Associated With Autism Spectrum Disorders: Approaches to Intervention
Frontiers in Neuroscience, 2021 Increasing evidence suggests that the autism spectrum disorder (ASD) may be associated with inborn errors of metabolism, such as disorders of amino acid metabolism and transport [phenylketonuria, homocystinuria, S-adenosylhomocysteine hydrolase ...
Tamara Žigman +3 more
doaj +1 more source
Painless self-mutilation − A case of hereditary sensory autonomic neuropathy type 4
Indian Journal of Paediatric Dermatology, 2022 Children with hereditary sensory and autonomic neuropathy (HSAN) Type IV present with loss of pain and temperature sensation and anhidrosis. They may sometimes exhibit aggressive and self-mutilating behavior. We present here the case of a 5-year-old male
Prateek Pathak +3 more
doaj +1 more source