Trisomy 8‐Positive Atypical Neuro‐Behçet's Disease With Recurrent Fever Attacks and Meningitis Over 17 Years

ABSTRACT Trisomy 8 very rarely causes atypical Behçet's disease without myelodysplastic syndrome (MDS). We report the case of 75‐year‐old woman with trisomy 8 who developed an atypical neuro‐Behçet's disease (NBD) without MDS. She developed aseptic meningitis and ileal ulcers after 17 years of recurrent fever attacks with high C‐reactive protein levels. Despite steroid treatment, her condition deteriorated. Laboratory tests showed human leukocyte antigen (HLA)‐B54, HLA‐Cw1, and a heterozygous E148Q mutation in the MEFV gene. She had no MDS complications. Colchicine and adalimumab were effective. Two years later, pathergy and genital ulcers appeared. We diagnosed NBD based on the symptoms. Chromosomal abnormalities, genetic factors, and HLA typing could influence symptoms and treatment responsiveness.