表现为反复高热和网状青斑及脑梗死的腺苷脱氨酶2缺乏症患者一例OA北大核心CSTPCD

Deficiency of adenosine deaminase 2(DADA2)is a rare monogenic,autosomal recessive disorder associated with vasculitis.An adult case of DADA2 was reported.The patient developed high fever and livedo reticularis in childhood,followed by recurrent cerebral infarction.The patient was left with marked motor dysfunction hypermyotonia of the extremities,varus deformity of both feet,and abnormal gait.The diagnosis was confirmed by gene and serum adenosine deaminase tests.Stroke did not recur after anti-tumor necrosis factor treatment.After comprehensive rehabilitation training,the muscle tension decreased,the abnormal gait improved,and the ability of daily living improved.By reporting this case,we hope to provide some reference for neurology physicians in clinical work.