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[Multiorgan failure associated with hyperthermia in an infant with Prader-Willi syndrome. case report]

Alejandro Donoso, Daniela Arriagada, Stephanie Campbell

    Archivos Argentinos De Pediatria
    |October 5, 2013
    PubMed

    Insights

    Infants with Prader-Willi syndrome are prone to thermoregulatory issues. This case highlights a 5-month-old with Prader-Willi syndrome who experienced multiorgan failure and rhabdomyolysis due to hyperthermia.

    Area of Science:

    • Pediatrics
    • Genetics
    • Critical Care Medicine

    Background:

    • Prader-Willi syndrome (PWS) is a genetic disorder affecting chromosome 15q11-q13, leading to hypotonia, developmental delay, hypogonadism, hyperphagia, and obesity.
    • Individuals with PWS exhibit impaired thermoregulation, increasing susceptibility to temperature dysregulation.
    • Heat stroke is a life-threatening condition characterized by hyperthermia and systemic inflammatory response, potentially causing multi-organ dysfunction.

    Observation:

    • A 5-month-old infant diagnosed with Prader-Willi syndrome presented with a febrile episode of unknown origin.
    • The infant developed severe hyperthermia, leading to significant clinical deterioration.

    Findings:

    • The infant experienced multiorganic failure, a severe complication of uncontrolled hyperthermia.
    • Rhabdomyolysis, indicated by muscle breakdown, was also a significant finding in this case.

    Implications:

    • This case underscores the critical risk of heat stroke and associated complications in infants with Prader-Willi syndrome.
    • Early recognition and prompt management of hyperthermia are crucial for improving outcomes in these vulnerable patients.
    • Further research into thermoregulatory mechanisms in PWS may inform preventative strategies and treatment protocols.

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