title: The McLeod syndrome without acanthocytes.
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.
authors.affiliation: Department of Neurology, 1st Medical Faculty, Charles University, Katerinská 30, 12000 Prague 2, Czech Republic. jiri.klempir@seznam.cz
authors.forename: Jirí
authors.initials: J
authors.lastname: Klempír
authors.forename: Jan
authors.initials: J
authors.lastname: Roth
authors.forename: Katerina
authors.initials: K
authors.lastname: Zárubová
authors.forename: Martin
authors.initials: M
authors.lastname: Písacka
authors.forename: Natasa
authors.initials: N
authors.lastname: Spacková
authors.forename: Louise
authors.initials: L
authors.lastname: Tilley
mesh_terms: 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
chemical_list: D026921:Amino Acid Transport Systems, Neutral; D007626:Kell Blood-Group System; C087883:XK protein, human; D003402:Creatine Kinase; D006836:Hydro-Lyases; C045581:lactate dehydratase