A case of young man with chorea-acanthocytosis

Introduction: Autosomal recessive chorea-acanthocytosis (ChAc) is a progressive neurodegenerative disorderwith onset of neurological symptoms that affects movement in many parts of the body. Patients with thiscondition also have abnormal star-shaped red blood cells (acanthocytosis).This is a rare genetic disorder. It isestimated that 500 to 1,000 people worldwide have chorea-acanthocytosis. ChAc is caused by various mutationsof a 73 exon gene on chromosome 9, VPS13A, coding for chorein.2 Neuroradiologically there is progressivestriatal atrophy, especially affecting the head of caudate nucleus. Neuropathology demonstrates severe neuronalloss and gliosis primarily of the head of the caudate and to a lesser extent of the putamen, globus pallidus andsubstantia nigra.Methods: This paper presents a case of ChAc in a 33 year old man that his parents were healthy but firstcousins. Seizures, typically generalized, was the first manifestation of disease. other obvious symptoms wereinvoluntary jerking movements, uncontrollable seizures, feeding dystonia with tongue protrusion after contactwith the food bolus, orofacial dyskinesias, involuntary vocalisations, dysarthria and involuntary tongue and lipbiting;cognitive impairment and obsessive- compulsive disorder. The gait had a rubber man appearance withtruncal instability and near-falls, and sudden, violent trunk spasms.Conclusion: This rare syndrome is accompanied with physical and mental disorders, therefore, a team ofspecialists is needed in treatment; and genetic counseling for the family is highly recommended.

کلیدواژه ها:

Chorea-acanthocytosis ، Genetic ، Neurologic