Progressive hearing loss and cerebellar ataxia in anti-Ma2-associated autoimmune encephalitis

Abstract

A 38-year-old Brazilian man presented with a two-year history of progressive bilateral hearing loss, cerebellar ataxia, emotional lability and hypersexuality. A limbic-brainstem syndrome was suspected and neuroimaging studies performed, disclosing marked brainstem signal changes (Figure). Cerebrospinal fluid analysis disclosed a mild protein increase. During paraneoplastic screening, testicular ultrasonography disclosed a heterogeneous complex mass in the right testicle ( Figure) and serum anti-Ma2 antibodies were detected.Anti-Ma2-associated encephalitis classically emerges in the context of seminomatous and nonseminomatous testicular tumors and presents with a complex spectrum of neurological manifestations 1 , including limbic encephalitis, atypical parkinsonism, cerebellar ataxia, brainstem dysfunction, myelopathy, radiculoplexopathy, REM sleep behavior disorder and narcolepsy 1,2 . Brain MR imaging studies disclosing cortical atrophy, bilateral hyperintensity in the mesial temporal lobes and marked hyperintense signal change in the pons and superior cerebellar peduncles in axial FLAIR sequence (A,B) and axial (C) and coronal T2-weighted images (D). (E) Ultrasonography of the testis disclosing a heterogeneous complex mass in the right testicle with the presence of flow inside the lesion in the Doppler study.

Autoimmune Vestibulocerebellar Syndromes

“…Prominent vestibulocerebellar and brainstem symptoms reported with this antibody syndrome include cerebellar ataxia, vertical gaze paresis, upbeat nystagmus, 69 opsoclonus, ptosis, skew deviations, horizontal gaze palsy, impaired pupillary responses, and progressive hearing loss. 70 Some of these findings (such as vertical gaze palsy) are thought to be due to the involvement of rostral brainstem structures such as the superior colliculi and periaqueductal gray matter and other structures that are involved in supranuclear control of gaze. Cases of isolated cerebellar ataxia (both truncal and appendicular) have also been reported but are rare.…”