Paroxysmal hyperthermia, dysautonomia and rhabdomyolysis in a patient with Lesch–Nyhan syndrome

Abstract Lesch–Nyhan syndrome is an x‐linked genetic disorder of purine metabolism that results in the overproduction of uric acid and neurologic deficits manifesting as intellectual disability, dystonia, other movement disorders and self‐mutilation. We describe a 12‐year‐old patient with a history...

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Autores principales:	Mandeep Rana, Karen Cuttin, Gerard T. Berry, Alcy Torres
Formato:	article
Lenguaje:	EN
Publicado:	Wiley 2021
Materias:	dysautonomia Lesch–Nyhan syndrome neuroleptic malignant syndrome rhabdomyolysis Diseases of the endocrine glands. Clinical endocrinology RC648-665 Genetics QH426-470
Acceso en línea:	https://doaj.org/article/91193d1d687f4e3280e8fe5b9a7af868
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spelling	oai:doaj.org-article:91193d1d687f4e3280e8fe5b9a7af8682021-11-08T13:27:18ZParoxysmal hyperthermia, dysautonomia and rhabdomyolysis in a patient with Lesch–Nyhan syndrome2192-831210.1002/jmd2.12249https://doaj.org/article/91193d1d687f4e3280e8fe5b9a7af8682021-11-01T00:00:00Zhttps://doi.org/10.1002/jmd2.12249https://doaj.org/toc/2192-8312Abstract Lesch–Nyhan syndrome is an x‐linked genetic disorder of purine metabolism that results in the overproduction of uric acid and neurologic deficits manifesting as intellectual disability, dystonia, other movement disorders and self‐mutilation. We describe a 12‐year‐old patient with a history of Lesch–Nyhan syndrome, G6PD deficiency and central diabetes insipidus and multiple admissions for fever, acute kidney injury and transaminitis in the setting of rhabdomyolysis. The patient's temperature dysregulation and dysautonomia is likely attributable to abnormal neurotransmitter release, particularly that of dopamine, in the central nervous system. Our patient presented similarly to that of a patient with neuroleptic malignant syndrome (NMS), with symptoms including altered mental status, fever, dysautonomia and renal failure, and laboratory findings including elevated serum creatinine kinase, leukocytosis, transaminitis, hypernatremia and metabolic acidosis. Similar to NMS, disruption of dopamine neurotransmission results in dysregulated sympathetic activity and hyperthermia.Mandeep RanaKaren CuttinGerard T. BerryAlcy TorresWileyarticledysautonomiaLesch–Nyhan syndromeneuroleptic malignant syndromerhabdomyolysisDiseases of the endocrine glands. Clinical endocrinologyRC648-665GeneticsQH426-470ENJIMD Reports, Vol 62, Iss 1, Pp 30-34 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	dysautonomia Lesch–Nyhan syndrome neuroleptic malignant syndrome rhabdomyolysis Diseases of the endocrine glands. Clinical endocrinology RC648-665 Genetics QH426-470
spellingShingle	dysautonomia Lesch–Nyhan syndrome neuroleptic malignant syndrome rhabdomyolysis Diseases of the endocrine glands. Clinical endocrinology RC648-665 Genetics QH426-470 Mandeep Rana Karen Cuttin Gerard T. Berry Alcy Torres Paroxysmal hyperthermia, dysautonomia and rhabdomyolysis in a patient with Lesch–Nyhan syndrome
description	Abstract Lesch–Nyhan syndrome is an x‐linked genetic disorder of purine metabolism that results in the overproduction of uric acid and neurologic deficits manifesting as intellectual disability, dystonia, other movement disorders and self‐mutilation. We describe a 12‐year‐old patient with a history of Lesch–Nyhan syndrome, G6PD deficiency and central diabetes insipidus and multiple admissions for fever, acute kidney injury and transaminitis in the setting of rhabdomyolysis. The patient's temperature dysregulation and dysautonomia is likely attributable to abnormal neurotransmitter release, particularly that of dopamine, in the central nervous system. Our patient presented similarly to that of a patient with neuroleptic malignant syndrome (NMS), with symptoms including altered mental status, fever, dysautonomia and renal failure, and laboratory findings including elevated serum creatinine kinase, leukocytosis, transaminitis, hypernatremia and metabolic acidosis. Similar to NMS, disruption of dopamine neurotransmission results in dysregulated sympathetic activity and hyperthermia.
format	article
author	Mandeep Rana Karen Cuttin Gerard T. Berry Alcy Torres
author_facet	Mandeep Rana Karen Cuttin Gerard T. Berry Alcy Torres
author_sort	Mandeep Rana
title	Paroxysmal hyperthermia, dysautonomia and rhabdomyolysis in a patient with Lesch–Nyhan syndrome
title_short	Paroxysmal hyperthermia, dysautonomia and rhabdomyolysis in a patient with Lesch–Nyhan syndrome
title_full	Paroxysmal hyperthermia, dysautonomia and rhabdomyolysis in a patient with Lesch–Nyhan syndrome
title_fullStr	Paroxysmal hyperthermia, dysautonomia and rhabdomyolysis in a patient with Lesch–Nyhan syndrome
title_full_unstemmed	Paroxysmal hyperthermia, dysautonomia and rhabdomyolysis in a patient with Lesch–Nyhan syndrome
title_sort	paroxysmal hyperthermia, dysautonomia and rhabdomyolysis in a patient with lesch–nyhan syndrome
publisher	Wiley
publishDate	2021
url	https://doaj.org/article/91193d1d687f4e3280e8fe5b9a7af868
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Paroxysmal hyperthermia, dysautonomia and rhabdomyolysis in a patient with Lesch–Nyhan syndrome

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