[Choreoacanthocytosis. A neurologic-hematologic syndrome]

A 43 year old male patient is reported who presented at the age of 33 years with a hyperkinetic movement disorder. At the time of presentation orofacial dyskinesias, tic-like hyperkinesias with vocalisation and behavioural disturbance dominated the clinical picture. In the course of his illness he developed a marked truncal choreoathetosis and a symmetrical, distal, predominantly motor polyneuropathy with wasting of lower leg muscles. Serum creatinine kinase levels were markedly elevated. Serum lipids and lipoproteins were within normal limits. These clinical features in combination with an increased number of acanthocytes, clearly visible after dilution of whole blood with normal saline (1:1), led to the diagnosis of choreoacanthocytosis (CA). Both parents were neurologically and behaviourally normal, but were found to have acanthocytes in saline diluted whole blood. The literature concerning CA is reviewed.