ENT characteristics and therapeutic results in multisystemic disorders of mitochondrial encephalomyopathy

Abstract

Here we report the evaluation of the frequency of subjective and objective otolaryngologic findings and therapeutic results in 32 patients with mitochondrial encephalomyopathy (MEM) from September 2001 to June 2021. Our analysis included studying the patients’ family histories, the clinical manifestations of MEM, and the therapeutic effects of treatments. The patients’ ages ranged from 2 to 77 years, with a median age of 12.3 years. We found that MEM ENT symptoms were characterized by hearing loss, dysphagia, and facial weakness. Most cases of sensorineural hearing loss were bilateral symmetrical progressive or sudden deafness since adolescence, which were often underestimated. Associated neuromuscular symptoms required mtDNA testing. Dysphagia and facial weakness occurred preferentially in middle-aged patients, and muscle biopsies were advised. Distortion product otoacoustic emissions and auditory brainstem responsetesting were more sensitive and reliable than pure tone averages for objective monitoring of pathogenesis. Administration of the mitochondrial synthase complex benefited patients with acute episodes. If patients did not fully recover and exhibitedresidual language deficits, hearing aids or cochlear implants were recommended. Counsel was given regarding synthetical treatments for facial weakness, endoscopic circopharyngealmyotomy for dysphagia, and surgical correction of ptosis. This study demonstrates that increased awareness of these symptoms is important to address appropriate interventions and avoid complications such as ablepsia, aphasia, social isolation, malnutrition, aspiration pneumonia, and heart failure in the setting of MEM.

Hearing Impairment and Neuroimaging Results in Mitochondrial Diseases

“…This syndrome (also named subacute necrotizing encephalomyelopathy) is characterized by an onset between 3 and 12 months of age, and its clinical features include neurological signs (hypotonia, spasticity, movement disorders, cerebellar ataxia, and peripheral neuropathy) and extraneurological manifestations (cardiological and respiratory insufficiency). CPEO has mainly been related to single or multiple mtDNA deletions [ 9 ]. However, sporadic autosomal dominant or recessive traits involving nuclear genes related to mtDNA or mitochondrial adenine nucleotide replication have been described [ 10 ].…”

“…However, sporadic autosomal dominant or recessive traits involving nuclear genes related to mtDNA or mitochondrial adenine nucleotide replication have been described [ 10 ]. Hearing loss was reported in 55, 3% of CPEO patients and in 80% of KSS patients [ 9 ].…”