Unique Polysomnography Pattern Leading to the Diagnosis of Anti-Ma2 Encephalitis

Anti-Ma2 encephalitis is a rare autoimmune paraneoplastic syndrome that can present as secondary narcolepsy due to hypothalamic involvement.

We present a case of anti-Ma2 encephalitis in which polysomnography was key to suspect the final diagnosis.

A 72-year-old man presented with progressive hypersomnia and recurrent falls, initially misinterpreted as secondary to obstructive sleep apnea and cardiogenic syncope, respectively. Symptoms continued to worsen, prompting hospital admission. Video-polysomnography revealed a previously unreported sleep pattern, characterized by an abnormally increased proportion of REM sleep (approximately 3 times the expected), with sleep-onset REM periods occurring every time sleep was resumed after nocturnal awakenings. In addition, non-REM sleep was undifferentiated, without sleep spindles, K complexes, or slow-wave sleep. The recurrent SOREMPs raised suspicion of secondary narcolepsy. MRI showed T2 hyperintensities in different brain regions, including the hypothalamus, and CSF analysis confirmed anti-Ma2 antibodies and decreased hypocretin-1 levels. Symptoms only partially improved after immunotherapy, and malignancy screening remained inconclusive.

This case illustrates the diagnostic challenge of autoimmune encephalitis, especially in the older population, and adds to the growing evidence on the value of sleep studies in these conditions. We describe a unique polysomnography pattern in anti-Ma2 encephalitis that could guide the diagnosis of this entity.