细胞因子生物学杂志

抽象的

Ischemic Cerebrovascular Accident as a Novel Presentation of CTLA-4 Haploinsufficiency, a Case Report

Seyed Hesamedin Nabavizadeh, Hossein Esmaeilzadeh, Soheila Alyasin, Aida Askarisarvestani

Background: Patients with CTLA-4 haploinsufficiency suffer from immune system dysregulation with symptoms of autoimmunity and immunodeficiency. Clinical presentation of CTLA-4 haploinsufficiency is described as recurrent infections due to immunodeficiency, as well as autoimmune related type 1 diabetes mellitus and neurologic complications. Neurologic manifestations of CTLA-4 haploinsufficiency included autoimmune encephalitis and demyelinating syndromes.

Case presentation: The patient was a 10 year old girl known case of CTLA-4 haploinsufficiency who presented with vertigo and impaired Romberg test. In her brain MRI, multiple hyper intense lesions in T2 and FLAIR were found. Her electroencephalogram also showed focal epileptic waves. She was treated with tacrolimus, prednisolone and levetiracetam which ended in the resolution of her symptoms.

Conclusion: Ischemic Cerebrovascular Accidents (CVA) and epilepsy might be the novel neurologic manifestations of CTLA-4 haploinsufficiency