McLeod Neuroacanthocytosis syndrome
McLeod neuroacanthocytosis syndrome is a rare inherited disorder affecting males. Rarely women carrying the gene may have symptoms. McLeod syndrome is due to a weak expression of the Kell glycoprotein antigens and the absence of a red blood cell surface antigen, Kx caused by mutations of the Kell gene on the X-chromosome. It is a multisystemic disorder characterized by neuromuscular, haematological, liver, spleen, heart and central nervous system features. About one hundred and fifty cases have been reported worldwide. The features of McLeod neuroacanthocytosis syndrome can develop singly or in variable combinations and include: acanthocytosis, slight anaemia and increased levels of creatine kinase (CK), progressive muscular atrophy, seizures, and involuntary movement of the limbs, trunk, neck, face (but lip and tongue biting are not typical); cardiac problems; enlarged liver and spleen, and abnormal liver function tests. As the symptoms and signs of this syndrome seem to be variable even among siblings, it is sometimes difficult to distinguish the condition from other neuromuscular disorders by clinical features and conventional examination. A characteristic feature is the presence of the McLeod blood group phenotype (characteristics determined by the interaction between an individuals genes and the environment).
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