[MIM 300 842]

Prevalence < 1/106. Form of  neuroacanthocytotic X-linked syndrome characterized in males by neurological, psychiatric and hematologic abnormalities. Mutation of Xk gene (Xp21.1). Due to continuity of genes, some cases are associated to Duchenne disease or chronic granulomatosis. Female carriers have a mosaicism for Kell antigen and acanthocytosis but have no neurological nor psychiatric manifestations.

Clinical presentation:

-        onset between 25 and 60 years

-        neurological manifestations: uncoordinated movements (chorea), cognitive disorders and muscle weakness with atrophy; cases of rhabdomyolysis have been described

-        sometimes dilated cardiomyopathy  with rhythm disorders (atrial fibrillation)

-        hematologic symptoms: acanthocytosis and McLeod phenotype due to the lack of expression of Kx red cell antigen and decrease of expression of Kell antigen.

Anesthetic implications:

risk of rhabdomyolysis; echocardiography

References:        

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Updated: February 2017