Neuroacanthocytosis is a rare slowly progressive neurodegenerative disease accompanied with movement disorders, epilepsy, cognitive impairment, multisystem psychiatric symptoms. It is usually investigated in patients presenting with movement disorders, and diagnosis is made based on clinical presentation and the presence of acanthocytes in the peripheral blood. We aimed to present a case of neuroacanthocytosis with prominent cerebellar findings.
Keywords: Neuroacanthocytosis, acanthocyte, cerebellar syndrome
IntroductionNeuroacanthocytosis is a multisystemic, slowly progressive, neurodegenerative disease associated by chorea, dystonia, orofacial dyskinesia, tics, epilepsy, cognitive involvement, and behavioural changes (1, 2). In its differential diagnosis, there can be many diseases such as Huntington disease (HD), Parkinson's disease, Tourette's syndrome, and Wilson's disease. In this study, we aimed to present the case of a patient with neuroacanthocytosis with prominent cerebellar findings.
Case ReportA 52-year-old female patient applied with 5 years history of progressive gait disturbance and dysphagia, difficulty in speech and imbalance. She had a history of epilepsy for 20 years. She also had a history of smoking a pack of cigarettes a day for 30 years. She appeared cachectic, and her cooperation was limited due to cognitive deterioration. Her speech could hardly be understood in the neurologic examination; speech fluency was decreased with impaired articulation, dysphonic, and dysarthric. The tongue movements were limited. She had orolingual dyskinesia and dysphagia. Her muscle strength was 4/5 in the extremity proximal muscles and 3/5 in the distal muscles. The right interosseous muscles were atrophic. Deep tendon reflexes were decreased and the plantar reflex were bilaterally extensor. Mild rigidity was detected in the left upper extremity. She had bilateral dysmetria, dysdiadochokinesia, and ataxia. Hemogram values; function tests of the liver, kidney, and thyroid; folic acid levels; vasculitis parameters; serum copper, ceruloplasmin, and urinary copper levels; tumor markers; protein levels; and lipid electrophoresis were within reference intervals. B12 level was 120 mg/dL and replacement therapy was administered. On the cranial magnetic resonance (MR) examination, a 4-mm cavernoma and diffuse moderate cerebral atrophy were detected (Figure 1, 2). Chronic axonal sensorimotor polyneuropathy was detected in her electromyography examination. Electroencephalography findings were normal. The CAG repeat was normal. Acanthocytes rate over 50% was found in each peripheral smear repeated three times (Figure 3). The diagnosis of neuroacanthocytosis was established by clinical and peripheral smear findings. Symptomatic treatment with olanzapine (5 mg/day) was started. Patients' written informed consent was obtained.
DiscussionNeuroacanthocytosis, consisting of deformed erythrocytes known as acanthocytes in the peripheral blood is a rare disease which presents with various neurological and psychiatric findings. I...