Case of McLeod syndrome with a novel genetic mutation

Abstract

AbstractMcLeod syndrome is a rare neuroacanthocytosis caused by mutation of the XK gene. Acanthocytes in peripheral blood, systemic chorea, neuropathy, myopathy and increased serum levels of creatine kinase are observed in this syndrome, and mental manifestations and cardiomyopathy can also arise as complications. Various mutations in the XK gene have been reported, but the pathological condition in McLeod syndrome is unclear because of a lack of reports. We report a 64‐year‐old man with McLeod syndrome who showed increased levels of creatine kinase, and muscle atrophy and weakness in bilateral lower limbs. Peripheral blood smear showed numerous acanthocytes, and reduced levels of Kell antigen and the absence of XK protein suggested McLeod syndrome. Genetic analysis showed a mutation of c.del724_729TGTAGinsGGTCCTCTTTACC on exon 3 of the XK gene. To our knowledge, this is a novel genetic mutation in the XK gene.