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Restoring childhood through rehabilitation.

K Heery

    Rehabilitation Nursing : the Official Journal of the Association of Rehabilitation Nurses
    |July 1, 1992
    PubMed
    Summary

    Wilson's disease, a rare genetic disorder causing copper buildup, severely impacted a 9-year-old girl. This case study highlights clinical and rehabilitation efforts to restore her quality of life.

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    Area of Science:

    • Pediatric Neurology
    • Genetic Metabolic Disorders
    • Rehabilitation Medicine

    Background:

    • Wilson's disease is a rare autosomal recessive genetic disorder.
    • It leads to excessive copper accumulation in organs, primarily the liver and brain.
    • Early diagnosis and treatment are crucial to prevent irreversible damage.

    Observation:

    • A 9-year-old girl presented with neurological symptoms including tingling, inability to walk, and loss of speech.
    • The patient was diagnosed with Wilson's disease.
    • The disease caused a significant loss of developmental milestones and childhood experiences.

    Findings:

    • Comprehensive nursing care addressed physiological, developmental, and restorative needs.
    • A tailored home pediatric rehabilitation program was implemented.
    • Focus was placed on regaining lost functions and improving quality of life.

    Implications:

    • This case underscores the importance of multidisciplinary care in managing pediatric Wilson's disease.
    • Effective rehabilitation can significantly improve outcomes and restore developmental trajectories.
    • Highlighting the long-term impact and recovery potential of Wilson's disease in children.

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