Recurrent Fevers, Dysautonomia, and Dehydration in a Patient With Lesch-Nyhan Syndrome

Lesch-Nyhan syndrome (LNS) is a disease characterized by a reduced ability to recycle purines, leading to increased de novo purine synthesis and uric acid production. Patients classically present with an array of hyperuricemic, neurologic, and behavioral symptoms. In this report, we describe a 26-ye...

Full description

Saved in:
Bibliographic Details
Published inCurēus (Palo Alto, CA) Vol. 16; no. 5; p. e61170
Main Authors Pan, Samuel, Truss, Annie, Hussain, Sabiha
Format Journal Article
LanguageEnglish
Published United States Cureus Inc 27.05.2024
Cureus
Subjects
Antibiotics
Behavior
Blood pressure
Body temperature
Cardiac arrhythmia
Catheters
Chloride
Creatinine
Dopamine
Dysphagia
Dystonia
Electrolytes
Emergency medical care
Endocrinology/Diabetes/Metabolism
Fever
Hyperthermia
Intensive care
Internal Medicine
Laboratories
Metabolism
Ostomy
Parkinson's disease
Patients
Potassium
Pulmonary arteries
Sepsis
Sodium
dopamine signaling
hyperthermia
dysautonomia
neuroleptic malignant syndrome
lesch-nyhan syndrome
Online AccessGet full text

Cover

More Information
Summary:Lesch-Nyhan syndrome (LNS) is a disease characterized by a reduced ability to recycle purines, leading to increased de novo purine synthesis and uric acid production. Patients classically present with an array of hyperuricemic, neurologic, and behavioral symptoms. In this report, we describe a 26-year-old male with a history of LNS and recurrent fevers of unknown origin who presented to the emergency department (ED) with a fever, hypotension, and hypernatremia. We suspect that our patient's presentation was caused by autonomic instability in the setting of LNS leading to excessive free water loss. This report highlights a rare but life-threatening manifestation of LNS.
Bibliography:ObjectType-Case Study-2
SourceType-Scholarly Journals-1
ObjectType-Feature-4
content type line 23
ObjectType-Report-1
ObjectType-Article-3
ISSN:2168-8184
2168-8184
DOI:10.7759/cureus.61170