Objective: The abstract provides a description of the clinical case of chorea-acanthocytosis diagnosed at the Department of Neurology No. 1 of the Kyiv Regional Clinical Hospital (Ukraine).

Background: Chorea-acanthocytosis is a rare autosomal recessive degenerative neurological disease characterized by progressive hyperkinesis (chorea and dystonia), mental disorders and the presence of acanthocytes (erythrocytes with a few spicules of varying size). Sometimes parkinsonism, seizures, mild neuropathic and myopathic disorders, and cardiomyopathy can be seen. The disease runs a chronic progressive course and eventually fatal. Treatment is limited to symptomatic therapies [Baeza A.V. et al., 2014; Danek A., Walker R.H., 2005; Jung H.H., Danek A., Walker R.H., 2011].

Methods: Clinical, laboratorial and instrumental.

Results: A 52-year-old woman complained of generalized, involuntary, violent movements on her facial muscles, tongue, neck, trunk, upper and lower limbs, unsteadiness when walking, general weakness and memory loss. She had involuntary movements in the last six months, their severity gradually progressing. She had unsteadiness when walking and memory loss in the last two years. Family history was unremarkable. On examination, Montreal Cognitive Assessment was 22/30. She had mild dysarthria. These were constant, moderate, choreic movements in the facial muscles, tongue, neck, trunk, upper and lower limbs, both at rest and during movements (e.g., walking, performing coordination and bradykinesia tests). She had moderate, generalized, symmetric bradykinesia and mild rigidity in all limbs. There was absence of postural response on the pull-back test and mild unsteadiness during walking. Hyperreflexia of tendon and periosteal reflexes more pronounced on the left than on the right was seen. She had mild loss of muscle-joint and vibration sense on both feet and hands. Laboratory blood tests were normal except screening for acanthocytes: 6-8 acanthocytes per high power field; MRI of brain: Small vessel disease; EMG: normal; EEG: normal; EKG: Signs of metabolic abnormalities in the posterolateral part of the left ventricle. DIAGNOSIS: Chorea-acanthocytosis.

Conclusions: This case demonstrates the typical course and progression of a rare neurological disease.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/chorea-acanthocytosis-the-first-described-clinical-case-in-ukraine/