抗アデニル酸キナーゼ5（AK5）リンパ系辺縁系脳炎の模倣例と診断上の落とし穴

The clinical understanding of limbic encephalitis associated with antibodies against adenylate kinase 5 (AK5) remains limited. Misinterpretation of antibody test results may lead to diagnostic errors and inappropriate management. We aim to assess the frequency of anti-AK5 encephalitis overdiagnosis and identify common diagnostic pitfalls.

Cases of confirmed and mimicking anti-AK5 limbic encephalitis from January 2021 to July 2024 using established criteria for autoimmune encephalitis (AE) were reviewed. AK5 mimics were defined as patients initially suspected of AE with a positive AK5 autoantibody result, but who ultimately received an alternative final diagnosis.

A total of 21 patients were included (57.1% female; median age 34 years; range 14-82). Only 3 patients (14%) were diagnosed with definite anti-AK5 limbic encephalitis, while 18 patients (86%) were classified as AK5 mimics. Serum autoantibodies were predominantly of the IgG3 subclass, with titers ranging from 1:10 to 1:100. The mimics included primary psychiatric disorders (22%), central nervous system (CNS) infections (22%), other inflammatory disorders (28%), epilepsy (16%), neurodegenerative diseases (6%) and metabolic encephalopathy (6%). The most frequent confounding factor in misdiagnosis was the presence of prominent psychiatric and behavioral symptoms, seen in 50% (9 of 18) of AK5 mimics. The second most common confounder was the presence of low serum antibody titers or isolated serum positivity without corresponding cerebrospinal fluid (CSF) findings (< 1:100), observed in 94% (17 of 18) of mimics.

Mimics of anti-AK5 encephalitis are common and that misdiagnosis is often driven by non-specific symptoms and clinically irrelevant antibody results.