Clinical, laboratory, and neuroimaging characteristics of neuroacanthocytosis

Objective To investigate the clinical, laboratory, and neuroimaging characteristics of neuroacanthocytosis. Methods Eight patients with neuroacanthocytosis were retrospectively analysed. Acanthocytes were tested by peripheral blood smear, wet preparation with saline dilution, and scanning electron microscope. Results Two male and 6 female patients were included. The age at onset was between 10 and 35 years, with a mean age at onset of 22 years. Four patients firstly presented with oral-facial-lingual dystonia, 3 patients firstly presented with involuntary movements of the distal limbs and experienced the oral facial dystonia during the course of disease, and 1 patient primary presented with a parkinsonian syndrome. Four patients had generalized tonic-clonic seizures were reported in 4 patients, and 4 patients had cognitive impairment. Hypotonia and hyporeflexia were reported in 6 patients. The peripheral blood smear revealed the presence of acanthocytes in 7 patients, in addition, wet preparation with saline dilution and scanning electron microscope revealed the presence of acanthocytes in the remaining one. All patients showed slightly elevated serum creatine kinase. Brain magnetic resonance imaging (MRI) showed variable atrophy of the bilateral caudate nuclei and putamen, with or without a rim of increased T2-intensity in 6 patients, but the films of 2 patients were read as normal.Electromyography and nerve conduction velocity were examined in 4 patients. The results indicated axonal damage in 2 patients, and were normal in the other 2 patients. Acanthocytosis was confirmed by peripheral blood smear in 7 cases, by wet preparation with saline dilution in 8 cases and by scanning electron microscope in 2 cases. Conclusions Neuroacanthocytosis is a progress neurodegenerative disorder mainly affected the basal ganglia. The clinical characteristics include oral facial dystonia, limbs chorea, cognitive impairment, and seizures. Brain MRI showed variable atrophy of the bilateral caudate nuclei and putamen. The peripheral blood smear, wet preparation with saline dilution, and scanning electron microscope methods of peripheral blood examination are critical in the diagnosis of neuroacanthocytosis. Key words: Neuroacanthocytosis; Magnetic resonance imaging