Neuroacanthocytosis: 2 Cases of Familial Choreoacanthocytosis

ABSTRACT

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.