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

Autor: Rana M; Department of Pediatrics, Division of Pediatric Neurology Boston University School of Medicine, Boston Medical Center Boston Massachusetts USA., Cuttin K; Department of Pediatrics, Division of Pediatric Neurology Boston University School of Medicine, Boston Medical Center Boston Massachusetts USA., Berry GT; Department of Pediatrics, Division of Genetics and Genomics Boston Children's Hospital and Harvard Medical School Boston Massachusetts USA., Torres A; Department of Pediatrics, Division of Pediatric Neurology Boston University School of Medicine, Boston Medical Center Boston Massachusetts USA.
Jazyk: angličtina
Zdroj: JIMD reports [JIMD Rep] 2021 Sep 28; Vol. 62 (1), pp. 30-34. Date of Electronic Publication: 2021 Sep 28 (Print Publication: 2021).
DOI: 10.1002/jmd2.12249
Abstrakt: 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.
Competing Interests: The author declares that there is no conflict of interest that could be perceived as prejudicing the impartiality of the research reported.
(© 2021 The Authors. JIMD Reports published by John Wiley & Sons Ltd on behalf of SSIEM.)
Databáze: MEDLINE
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