The McLeod syndrome without acanthocytes.
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.
Klempír
Jirí
J
Department of Neurology, 1st Medical Faculty, Charles University, Katerinská 30, 12000 Prague 2, Czech Republic. jiri.klempir@seznam.cz
Roth
Jan
J
Zárubová
Katerina
K
Písacka
Martin
M
Spacková
Natasa
N
Tilley
Louise
L
D000050:Acanthocytes / Q000378:metabolism / Q000473:pathology*; D026921:Amino Acid Transport Systems, Neutral / Q000235:genetics; D002819:Chorea / Q000150:complications / Q000235:genetics* / Q000378:metabolism*; D003402:Creatine Kinase / Q000097:blood; D006801:Humans; D006836:Hydro-Lyases / Q000097:blood; D007626:Kell Blood-Group System / Q000097:blood; D008297:Male; D008875:Middle Aged; D009154:Mutation; D025064:Sex Chromosome Disorders
D026921:Amino Acid Transport Systems, Neutral; D007626:Kell Blood-Group System; C087883:XK protein, human; D003402:Creatine Kinase; D006836:Hydro-Lyases; C045581:lactate dehydratase