نوع مقاله : گزارش مورد
1 دانشیار گروه مغز واعصاب
2 نورولوژیست گروه مغز واعصاب
3 دانشیار گروه داخلی( هماتولوژی)
4 دستیار گروه مغز واعصاب
عنوان مقاله [English]
ntroduction: Neuroacanthocytosis, a rare neurodegenerative disorder, is commonly transmitted in autosomal recessive pattern. It accompanies with several movement abnormalities such as tics, orofacial dystonia, tongue and lip biting, and absent tendon reflexes. Behavioral and cognitive changes occur frequently. Acanthocytosis with normal serum lipoproteins is a characteristic finding in this syndrome. A case of neuroacanthocytosis is presented in this article.
Case report: The patient was a 37 years old man, referred to Neurology Department for progressive weakness, behavioral changes, chorea, vocal tics, orofacial dystonia, cough and fever. The diagnosis was proved by several assessments. He was treated for the complication of aspiration pneumonia and his movement disorder and recovered relatively.
Conclusion: Although rare, this condition is present in our country thus it should be considered for all patients with movement and cognitive disorders.