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The McLeod syndrome without acanthocytes
J Klempir, J Roth, K Zarubova, M Pisacka, N Spackova, L Tilley
Language English Country Great Britain
Document type Case Reports
Grant support
NR8937
MZ0
CEP Register
- MeSH
- Acanthocytes metabolism pathology MeSH
- Chorea genetics complications metabolism MeSH
- Hydro-Lyases blood MeSH
- Creatine Kinase blood MeSH
- Kell Blood-Group System blood MeSH
- Middle Aged MeSH
- Humans MeSH
- Mutation MeSH
- Sex Chromosome Disorders MeSH
- Amino Acid Transport Systems, Neutral genetics MeSH
- Check Tag
- Middle Aged MeSH
- Humans MeSH
- Male MeSH
- Publication type
- Case Reports MeSH
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.
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- $a The McLeod syndrome without acanthocytes / $c J Klempir, J Roth, K Zarubova, M Pisacka, N Spackova, L Tilley
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- $a Department of Neurology, 1st Medical Faculty, Charles University, Katerinska 30, 12000 Prague 2, Czech Republic. jiri.klempir@seznam.cz
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- $a 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.
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