Choreoacanthocytosis or Levine-Critchley syndrome (MIM 200150) is a progressive multisystem disease with autosomal recessive transmission and a wide range of symptoms including: involuntary movements, lesion of peripheral nervous system, myopathy, behavioural and intellectual abnormalities, epilepsy, acanthocytosis and absence of any lipid abnormality. This disease is caused by mutation in VPS13A gene (CHAC) which is located on ch9q21. VPS13A gene spanning a 250 kbp region and consists of 73 exons. This gene encodes a large protein of unknown function, named chorein. Treatment for choreoacanthocytosis is aimed at the problematic symptoms of the sufferer but may not result in modification of natural history of this disease. Herein we report the case of a patient with positive familial history, choreiform movements in the arms, involuntary movements of the face and tongue, which was associated with vocalizations, dysarthria and dysphagia, progressing intellectual abnormalities, depression, clinical sign of peripheral nervous system lesion or/and myopathy, epilepsy with tonic-clonic fits and acanthocytosis. Creatine kinase was raised at – 387 U/l (N: 0-145 U/l) with LDH – 244 U/l (N: 80-240 U/l). Direct bilirubin and indirect bilirubin was slightly elevated. The MRI of the brain showed typical atrophy of the caudate nucleus (left) and seldom observed atrophy of hippocampus (right). As far as we know, it is the first observation of a patient with familial choreoacanthocytosis in Poland.

choreoacanthocytosis, Levine-Critchley syndrome, acanthocytosis, involuntary movements, epilepsy, mental deficits