Objective: To describe a case of a patient with narcolepsy type 1, supranuclear vertical gaze palsy, and agrypnia excitata, who presented with anti-Ma encephalitis.

Background: The Ma protein is predominantly found in diencephalic structures, brainstem, hippocampus, and amygdala; therefore, anti-Ma encephalitis can evince a wide variety of symptoms that include supranuclear vertical gaze paralysis, atypical parkinsonism, memory loss, and personality changes.

Agrypnia excitata (AE) produces sleep-wake differentiation with the disappearance of physiological NREM sleep features such us K complexes, spindles, and delta activities; slow-wave sleep loss with motor hyperactivity, and episodes of oneiric stupor.

Method: A 53-year-old man with a one-year history of hypersomnia, sleep talk, and brief involuntary movements during sleep. His medical history was remarkable for OSA treated with auto CPAP, and PLM. Initially diagnosed with narcolepsy type 1.

In the follow-up, he presented hypersomnia worsening, abnormal sleep behavior, with episodes of brief jerks during quiet wakefulness, sudden loss of muscle tone, memory difficulties, and unsteady gait with frequent falls.

Video polysomnography (v-PSG) revealed a completely disorganized sleep structure, disappearance of K complexes, spindles, the absence of slow-wave sleep, and episodes of oneiric stupor.

Results: Our patient was initially diagnosed with narcolepsy type 1 with RBD, and OSA; who presented three years later with memory difficulties, visual hallucinations, dysarthria, supranuclear vertical gaze palsy, parkinsonism, unsteady gait with frequent falls. Brain MRI revealed a T2 and FLAIR hyperintense-enhancing lesion in the midbrain and pons; of probable inflammatory characteristics; and v-PSG showed a pattern compatible with agrypnia excitata. The search for an underlying cancer was negative, with testicular ultrasound and a whole-body FDG-PET both normal. CSF and serum were positive for the anti-Ma antibody. Consequently, the patient was treated with IV immunoglobulin. At follow-up two months later, he showed partial clinical improvement.

Conclusion: Our case spotlights an interesting expression of anti-Ma encephalitis in a patient who started with narcolepsy type 1 and RBD, which slowly evolved to agrypnia excitata; and associated supranuclear vertical gaze palsy, not previously reported up to our knowledge.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/narcolepsy-type-1-supranuclear-vertical-gaze-palsy-and-agrypnia-excitata-in-a-patient-with-anti-ma-associated-encephalitis/