We have experienced a family case of 3 sisters in whom the proband showed a complete form of the choreo-acanthosytosis. 439-year-old female proband was admitted because of frequent seizures. She was alert, well-oriented, and had no gross memory defects. She had slurred speech, choreic movements of chin. Deep tendon reflexes on the both lower extremities were decreased. Laboratory examination showed acanthocytes in her peripheral red blood cells, normal serum lipid values, increased creatine-phosphokinase levels and bilateral caudate atrophy on her brain CT scan. Electrophysiological data were consistent with lower motor neuron dysfunction. Another 33-year-old sister with frequent seizures and psychic problems also showed acanthocytosis. The other 36-year-old sister has been treated under the diagnosis of schizophrenia for 10 years, not showing acanthocytosis.
Abetalipoproteinemia ; Acanthocytes ; Adult ; Atrophy ; Brain ; Chin ; Chorea ; Diagnosis ; Erythrocytes ; Female ; Humans ; Lower Extremity ; Memory ; Motor Neurons ; Neuroacanthocytosis* ; Reflex, Stretch ; Schizophrenia ; Seizures ; Siblings ; Tomography, X-Ray Computed

Neuroacanthocytosis is a rare dosorder characterized by various neurological manifestations and the presence of abnormal red blood cells called acanthocytes which have a disturbed morphology showing spiky, knobby end projections. Acanthocytosis associated with neurological involvements includes 3 major syndromes ; Bassen-Korzweig syndrome, choreoacanthocytosis (or Levine-Critchley syndrome), and Mcleod syndrome. Here, we report two cases of familial choreoacanthocytosis. A 40 years old man presented with orofacial dyskinesia, involuntary vocalization, dysarthria, dysphagia, generalized choreic movements, hyporef lexia, and amyotrophy of the bilarteral anterior tibilais muscles. Serum creatine phosphokinase was increased. Scanning electronmicroscopic examination of the fresh peripheral blood smear film showed acanthocytes, corresponding to about 6% of all red blood cells. His one of two daughter had high arched foot, bradykinesia, and hypoactive deep tendon reflexes. A 70 years old woman showed head and hand tremor, bilateral eye brow choreic movements, torticollis and bradykinesia. Her mother and two younger sisters had head termor. Serum creatine phosphokinase level was normal. Scanning electronmicroscopic examination of the fresh peripheral blood smear showed acnthocytes, corresponding to 9% of the examined red blood cells.
Abetalipoproteinemia ; Acanthocytes ; Adult ; Aged ; Chorea ; Creatine Kinase ; Deglutition Disorders ; Dysarthria ; Erythrocytes ; Female ; Foot ; Hand ; Head ; Humans ; Hypokinesia ; Mothers ; Movement Disorders ; Muscles ; Neuroacanthocytosis* ; Neurologic Manifestations ; Nuclear Family ; Reflex, Stretch ; Siblings ; Torticollis ; Tremor