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The McLeod syndrome without acanthocytes.

Jirí Klempír1, Jan Roth, Katerina Zárubová

  • 1Department of Neurology, 1st Medical Faculty, Charles University, Katerinská 30, 12000 Prague 2, Czech Republic. jiri.klempir@seznam.cz

Parkinsonism & Related Disorders
|September 18, 2007
PubMed
Summary
This summary is machine-generated.

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McLeod syndrome, a rare X-linked condition, presents with neurological and cardiac issues. This case highlights a fatal progression involving rhabdomyolysis and organ failure, emphasizing the severe systemic impact of McLeod syndrome.

Area of Science:

  • Neurology
  • Genetics
  • Cardiology

Background:

  • McLeod syndrome is a rare X-linked disorder associated with the XK gene.
  • It typically manifests with neurological and cardiac abnormalities.
  • This case details a patient with confirmed McLeod syndrome.

Observation:

  • A 45-year-old man presented with chorea, behavioral changes, amyotrophy, and polyneuropathy.
  • Cardiac evaluation revealed hypertrophic cardiomyopathy, with elevated creatine kinase (CK) and lactate dehydrogenase.
  • Erythrocytes showed absent XK protein and weak Kell antigen expression, leading to genetic testing.

Findings:

  • Genetic analysis confirmed a R133X mutation in the XK gene, diagnosing McLeod syndrome.
  • Seven years post-diagnosis, the patient experienced acute delirium, hypoglycemia, hyperthermia, rhabdomyolysis, and hepatic/renal failure.

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  • The patient ultimately died due to malignant arrhythmia.

    • Implications:

    • This case underscores the potential for severe, late-onset systemic complications in McLeod syndrome.
    • Early genetic diagnosis and monitoring are crucial for managing patients with McLeod syndrome.
    • Understanding the XK gene's role is vital for developing targeted therapies for related disorders.