Histopathological Features of Gerhardt Syndrome in a Patient With Multiple System Atrophy: An Autopsy Case Report

Abstract

Multiple system atrophy (MSA) is a progressive neurodegenerative disease characterized by autonomic failure, parkinsonism, and cerebellar ataxia. Gerhardt syndrome, which is inspiratory dyspnea with laryngeal stridor associated with dysfunction of the vocal folds, is a frequent and fatal complication of MSA. A 59-year-old man with a six-year history of MSA presented with ataxia and dysarthria. He also had dyspnea and stridor, which had worsened in the last three months, and died from respiratory distress. Autopsy revealed neurogenic group atrophy of the posterior cricoarytenoid (PCA) muscle, which suggested that laryngeal nerve damage caused abductor vocal fold paralysis in addition to cerebellar and brainstem atrophy with glial cytoplasmic inclusions. Our histopathological findings suggest that Gerhardt syndrome may be associated with neurogenic atrophy of the laryngeal abductor muscle (PCA muscle) of the vocal folds.

Keywords: gerhardt syndrome; group atrophy; multiple system atrophy; pathological autopsy; posterior cricoarytenoid muscle.

Figure 1. Brain MRI findings

Brain MRI shows atrophy of cerebellar and middle cerebellar peduncles (MCP), enlargement of the fourth ventricle, hyperintensity in the MCP (MCP-sign) (white arrow), and hot cross bun sign (black arrow). A: Axial T1-weighted MRI, B: Axial T2-weighted MRI, C: Fluid attenuated inversion recovery (FLAIR)

Figure 2. Laryngeal MRI finding

Axial T2-weighted MRI on initial admission shows no atrophy of the posterior cricoarytenoid (PCA) muscle (arrow).

Figure 3. Neurogenic group atrophy of the posterior cricoarytenoid muscle in an autopsy case with multiple system atrophy (MSA)

Neurogenic groups atrophy of the posterior cricoarytenoid muscle (arrow). Hematoxylin and eosin, scale bar 200 µm.