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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
Insights
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.
- 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.
Abstract:
A 45-year-old man developed chorea, behavioural changes, moderate amyotrophy and polyneuropathy. Hypertrophic cardiomyopathy and increased serum lactate dehydrogenase and creatine kinase (CK) were found. Acanthocytes were not detected. The absence of XK protein and faintly expressed Kell antigens on erythrocytes were found. Genetic test revealed a R133X mutation of the XK gene, confirming the McLeod syndrome. After 7 years he suddenly developed delirium followed by severe hypoglycaemia, hyperthermia, rhabdomyolysis, hepatic and renal failure. Malignant arrhythmia caused death.
