Bilateral Sensorineural Hearing Loss in the Setting of Acute Methamphetamine Overdose

Substance abuse is a rare but known cause of sensorineural hearing loss (SNHL). We report a case of acute SNHL in a 28-year-old man following an overdose of methamphetamine and incidental ingestion of fentanyl. On initial encounter, he had moderate-to-severe hearing loss in the right ear and severe-to-profound hearing loss in the left ear in addition to acute kidney injury, liver failure, and lactic acidosis. The patient was treated with a two-week course of high-dose steroids and expressed a subjective improvement in hearing. This case highlights the importance of auditory testing following a drug overdose and is one of the only documented cases of hearing loss following methamphetamine use in recent years. There is a paucity of literature regarding the mechanism causing acute SNHL secondary to methamphetamines. Proposed etiologies include neurotransmitter depletion or reduced cochlear blood flow as possible causes of ototoxicity.

Herniation of the Mastoid Segment of the Facial Nerve During Cochlear Implantation Surgery

Background: We aim to report a rare case of a herniated mastoid segment of the facial nerve that was accidently discovered during cochlear implantation surgery and how altering the surgery plan could achieve the implantation while preserving the nerve. Case presentation: A four-year-old girl presented with profound bilateral sensorineural hearing loss that did not completely resolve after 2 years of using hearing aids was scheduled for cochlear implantation surgery in the right ear. During surgery, a herniated mastoid segment of the facial nerve took an anterior course and obstructed the access to the round window. Conclusion: When a traditional posterior tympanotomy approach in cochlear implantation surgery is limited in cases of a herniated facial nerve, a tunnel created near the inferior part of the posterior wall of the auditory canal provided safe insertion of the electrode. It also permitted placement of a piece of fascia between the electrode and the facial nerve, therefore, protecting the facial nerve from electrical stimuli.

Genetic background in late-onset sensorineural hearing loss patients

Genetic testing for congenital or early-onset hearing loss patients has become a common diagnostic option in many countries. On the other hand, there are few late-onset hearing loss patients receiving genetic testing, as late-onset hearing loss is believed to be a complex disorder and the diagnostic rate for genetic testing in late-onset patients is lower than that for the congenital cases. To date, the etiology of late-onset hearing loss is largely unknown. In the present study, we recruited 48 unrelated Japanese patients with late-onset bilateral sensorineural hearing loss, and performed genetic analysis of 63 known deafness gene using massively parallel DNA sequencing. As a result, we identified 25 possibly causative variants in 29 patients (60.4%). The present results clearly indicated that various genes are involved in late-onset hearing loss and a significant portion of cases of late-onset hearing loss is due to genetic causes. In addition, we identified two interesting cases for whom we could expand the phenotypic description. One case with a novel MYO7A variant showed a milder phenotype with progressive hearing loss and late-onset retinitis pigmentosa. The other case presented with Stickler syndrome with a mild phenotype caused by a homozygous frameshift COL9A3 variant. In conclusion, comprehensive genetic testing for late-onset hearing loss patients is necessary to obtain accurate diagnosis and to provide more appropriate treatment for these patients.

Complex auditory musical hallucinations with ambivalent feelings

A 78-year-old woman with hypertension, diabetes mellitus type 2 and bilateral sensorineural hearing loss was referenced to geriatric psychiatry consultation. She presented cognitive dysfunction, erotomanic delusion and complex musical hallucinations (MH), described as hearing her neighbour singing a familiar church song along with bells in the background, making comments and talking to her. A computed tomography (CT) of the brain detected small right nucleocapsular and bilateral external capsules hypodensities of presumed vascular aetiology during hospitalisation. MH are a rare phenomenon with heterogeneous aetiology. Most frequently, the cause is hearing impairment; other causes include social isolation, cognitive dysfunction, vascular risk factors and medication. Studies suggest that some brain areas related to musical memory circuitry might be related and not fully mapped. Auditory verbal hallucinations with a voice that either comments, talks or sings to the patient have never been described in the literature, making this clinical case attractive.

Maternal mosaicism for a missense variant in the SMS gene that causes Snyder-Robinson syndrome

There is increasing recognition for the contribution of genetic mosaicism to human disease, particularly as high-throughput sequencing has enabled detection of sequence variants at very low allele frequencies. Here, we describe an infant male who presented at 9 months of age with hypotonia, dysmorphic features, congenital heart disease, hyperinsulinemic hypoglycemia, hypothyroidism, and bilateral sensorineural hearing loss. Whole-genome sequencing of the proband and the parents uncovered an apparent de novo mutation in the X-linked SMS gene. SMS encodes spermine synthase, which catalyzes the production of spermine from spermidine. Inactivation of the SMS gene disrupts the spermidine/spermine ratio, resulting in Snyder-Robinson syndrome. The variant in our patient is absent from the gnomAD and ExAC databases and causes a missense change (p.Arg130Cys) predicted to be damaging by most in silico tools. While Sanger sequencing confirmed the de novo status in our proband, PCR and deep targeted resequencing to ~84,000-175,000x depth revealed that the variant is present in blood from the unaffected mother at ~3% variant allele frequency. Our findings thus provided a long-sought diagnosis for the family while highlighting the role of parental mosaicism in severe genetic disorders.

Bilateral Sensorineural Hearing Loss and Septic Arthritis in Streptococcus suis Meningitis Patient: A Case Report

Background/aim: Bacterial meningitis is inflammation of the lining of the brain due to bacterial invasion of the CNS, especially in the cerebrospinal fluid in the subarachnoid and ventricles. Transmission of S. suis to humans occurs through direct contact with pigs and their processed products and consuming raw pork products. This case report reports a case of meningitis S. Suis with symptoms of decreased consciousness, bilateral sensorineural deafness and arthritis. Case: with a gradual loss of consciousness accompanied by headache and fever. The patient works in a pig slaughterhouse, and often consumes processed pork. The patient has decreased consciousness, fever, stiff neck, headache and septic arthritis. The patient found S.Suis type I in the blood, joint fluid culture (+), and CSF culture (+). The patient was treated with ceftriaxone according to CSF sensitivity culture test, dexamethasone and antipyretic/ analgesic as adjuvants. Patient recovered with improved genu arthritis and bilateral sensorineural hearing loss. Conclusion: Transmission of S. suis to humans occurs through direct contact with pork and its raw processed products. Clinical manifestations such as headache, fever, nausea and vomiting accompanied by signs of meningeal stimulation. The most prominent and frequently reported symptom is hearing loss. Definitive diagnosis is highly dependent on clinical examination, CSF culture and blood culture. Antibiotic therapy for 14 days, corticosteroids are the treatment of choice in bacterial meningitis. A frequently reported complication with sensorineural loss. Death is frequently reported in cases with systemic infection. Keywords: Bacterial meningitis, Streptococcus Suis, sensorineural hearing loss, arthritis septic, infected pigs and pork products.

Genetic and Non Genetic Hearing Loss and Associated Disabilities: An Epidemiological Survey in Emilia-Romagna Region

Hearing loss is one of the most common congenital sensory disorders. It can be associated with several comorbidities, in particular developmental disabilities (DD). In Emilia-Romagna (ER), a region in Northern Italy, Child and Adolescent Mental Health Services (CAMHS) provide the diagnostic framework and treatment for these conditions. The aim of the present study is to evaluate the prevalence of hearing loss, both isolated or in association with comorbidities, in the juvenile population. The study draws its data from the ER Childhood and Adolescent Neuropsychiatry Information System (SINPIAER), an Administrative Healthcare Database collecting the clinical data of all those who have attended CAMHS since 2010. The most frequent type of hearing loss was bilateral sensorineural hearing loss, which was present in 69–72% of the cases, while bilateral conductive hearing loss was the second most common type, ranging from 8 to 10%. Among DD, congenital malformations, mental retardation, visual impairment, and cerebral palsy were the most common. In particular, autism spectrum disorders show increasing incidence and prevalence among CAMHS users in ER region. In-depth knowledge of hearing loss epidemiology and related conditions, such as developmental disabilities, in the juvenile population is crucial for disease prevention, health planning, and resource allocation.