Objective:To elucidate the correlation between the GJB2 gene and auditory neuropathy, aiming to provide valuable insights for genetic counseling of affected individuals and their families. Methods:The general information, audiological data（including pure tone audiometry, distorted otoacoustic emission, auditory brainstem response, electrocochlography）, imaging data and genetic test data of 117 auditory neuropathy patients, and the patients with GJB2 gene mutation were screened out for the correlation analysis of auditory neuropathy. Results:Total of 16 patients were found to have GJB2 gene mutations, all of which were pathogenic or likely pathogenic.was Among them, one patient had compound heterozygous variants GJB2[c. 427C>T][c. 358_360del], exhibiting total deafness. One was GJB2[c. 299_300delAT][c. 35_36insG]compound heterozygous variants, the audiological findings were severe hearing loss.The remaining 14 patients with GJB2 gene variants exhibited typical auditory neuropathy. Conclusion:In this study, the relationship between GJB2 gene and auditory neuropathy was preliminarily analyzed,and explained the possible pathogenic mechanism of GJB2 gene variants that may be related to auditory neuropathy.
Humans ; Connexins/genetics* ; Connexin 26/genetics* ; Hearing Loss, Central/genetics* ; Deafness/genetics* ; Mutation

Humans ; Auditory Pathways ; Hearing Loss, Sensorineural ; Cochlear Implantation ; Cochlear Implants ; Hearing Loss, Central ; Auditory Threshold ; Evoked Potentials, Auditory, Brain Stem

Objective:To analyze the clinical diagnosis, treatment ，and surgical timing of otogenic intracranial complications. Methods:The clinical data of 11 patients with intracranial complications with ear symptoms as the first manifestation in Department of Otorhinolaryngology Head and Neck Surgery, Qilu Hospital of Shandong University（Qingdao） from December 2014 to June 2022 were collected, including 8 males and 3 females, aged from 4 to 69 years. All patients had complete otoendoscopy, audiology, imaging and etiology examination, and the diagnosis and treatment plan was jointly developed through multidisciplinary consultation according to the critical degree of clinical symptoms and imaging changes. Among the 11 patients, 5 cases were treated with intracranial lesions first in neurosurgery department and middle ear lesions later in otolaryngology, 3 cases of meningitis, were treated with middle ear surgery after intracranial infection control, 1 case was treated with middle ear lesions and intracranial infection simultaneously, and 2 cases were treated with sigmoid sinus and transverse sinus thrombosis conservatively. They were followed up for 1-6 years. Descriptive statistical methods were used for analysis. Results:All the 11 patients had ear varying symptoms, including ear pain, pus discharge and hearing loss, etc, and then fever appeared, headache, disturbance of consciousness, facial paralysis and other intracranial complication. Otoendoscopy showed perforation of the relaxation of the tympanic membrane in 5 cases, major perforation of the tension in 3 cases, neoplasia in the ear canal in 1 case, bulging of the tympanic membrane in 1 case, and turbidity of the tympanic membrane in 1 case. There were 4 cases of conductive hearing loss, 4 cases of mixed hearing loss and 3 cases of total deafness. Imaging examination showed cholesteatoma of the middle ear complicated with temporal lobe brain abscess in 4 cases, cerebellar abscess in 2 cases, cholesteatoma of the middle ear complicated with intracranial infection in 3 cases, and sigmoid sinus thrombophlebitis in 2 cases. In the etiological examination, 2 cases of Streptococcus pneumoniae were cultured in the pus of brain abscess and cerebrospinal fluid, and 1 case was cultured in streptococcus vestibularis, Bacteroides uniformis and Proteus mirabilis respectively. During the follow-up, 1 patient died of cardiovascular disease 3 years after discharge, and the remaining 10 patients survived. There was no recurrence of intracranial and middle ear lesions. Sigmoid sinus and transverse sinus thrombosis were significantly improved. Conclusion:Brain abscess, intracranial infection and thrombophlebitis are the most common otogenic intracranial complications, and cholesteatoma of middle ear is the most common primary disease. Timely diagnosis, multidisciplinary collaboration, accurate grasp of the timing in the treatment of primary focal and complications have improved the cure rate of the disease.
Female ; Humans ; Male ; Brain Abscess/therapy* ; Cholesteatoma ; Deafness/etiology* ; Hearing Loss/etiology* ; Lateral Sinus Thrombosis/therapy* ; Retrospective Studies ; Thrombophlebitis/therapy* ; Child, Preschool ; Child ; Adolescent ; Young Adult ; Adult ; Middle Aged ; Aged ; Cholesteatoma, Middle Ear/therapy* ; Central Nervous System Infections/therapy* ; Sinus Thrombosis, Intracranial/therapy* ; Ear Diseases/therapy*

Asians ; China ; Hearing Loss, Central ; Humans ; Practice Guidelines as Topic

Superficial siderosis of the central nervous system (CNS) is a progressive and debilitating neurological disease manifesting sensorineural hearing loss, cerebellar ataxia, and pyramidal tract signs. Chronic extravasation of blood into the subarachnoid space results in the accumulation of hemoglobin derivate in the subpial layer of the CNS, which is toxic to the neural tissues. Craniopharyngioma is a benign third ventricle tumor, which rarely presents with tumor bleeding. We report a rare case of superficial siderosis associated with craniopharyngioma with intratumoral hemorrhage in a patient with no history of prior trauma or CNS surgery.
Central Nervous System ; Cerebellar Ataxia ; Craniopharyngioma ; Hearing Loss, Sensorineural ; Hemorrhage ; Humans ; Magnetic Resonance Imaging ; Pyramidal Tracts ; Siderosis ; Subarachnoid Space ; Third Ventricle

Miliary tuberculosis is a severe form of tuberculosis resulting from dissemination of Mycobacterium tuberculosis bacilli. Since symptoms appearing in patients due to miliary TB are diverse and atypical, depending on the site of invasion, early diagnosis and treatment are important. A paradoxical response of tuberculosis is a rare phenomenon and it can be a clinical difficulty to treatment especially when involving the central nervous system. We present a case report with a review of related literature about the patient who developed sudden hearing loss due to tuberculosis infection in vestibulocochlear area.
Central Nervous System ; Early Diagnosis ; Hearing Loss, Sensorineural ; Hearing Loss, Sudden ; Humans ; Mycobacterium tuberculosis ; Tuberculosis ; Tuberculosis, Miliary

Superficial siderosis (SS) of the central nervous system is a rare disease, which is caused by the accumulation of iron from the hemoglobin in the superficial layer of the brain, spinal cord, and central parts of cranial nerves. The etiology of SS is the accumulation of hemosiderin in the subarachnoid space due to chronic or repeated hemorrhage resulting in progressive and irreversible neurological dysfunction. The cause of the disease is aneurysm, trauma, tumor, and vascular malformation. In most cases, the cause of bleeding is unknown. Clinical features include sensorineural hearing loss, cerebellar ataxia, and myelopathy. Until now, magnetic resonance imaging (MRI) has only been diagnosed and there is no standardized treatment. We will investigate clinical features and MRI findings of SS disease in the central nervous system using 2 patient cases.
Aneurysm ; Brain ; Central Nervous System ; Cerebellar Ataxia ; Cranial Nerves ; Dizziness ; Hearing Loss, Sensorineural ; Hemorrhage ; Hemosiderin ; Humans ; Iron ; Magnetic Resonance Imaging ; Rare Diseases ; Siderosis ; Spinal Cord ; Spinal Cord Diseases ; Subarachnoid Space ; Vascular Malformations ; Vertigo

Superficial siderosis results from the deposition of hemosiderin in subpial layers of the central nervous system following hemorrhage in subarachnoid spaces. Infratentorial superficial siderosis (ISS) presents with unique clinical features including progressive hearing loss, ataxia, and myelopathy, and the most common cause of idiopathic ISS is dural abnormality. Here we report a case of idiopathic ISS with radiological findings of spontaneous intracranial hypotension, whose clinical symptoms of ISS including cerebellar dysfunction improved after supine position was maintained for 2 months.
Ataxia ; Central Nervous System ; Cerebellar Diseases ; Hearing Loss ; Hemorrhage ; Hemosiderin ; Intracranial Hypotension ; Siderosis ; Spinal Cord Diseases ; Subarachnoid Space ; Subdural Effusion ; Supine Position

A pontine hemorrhage can evoke several neurological symptoms because the pons contains various nuclei and nerve fibers. Hearing loss can develop as a result of a pontine hemorrhage because there is an auditory conduction pathway in the cochlear nucleus of the pons. However, very few cases of hearing loss caused by pontine lesions have been reported, and there have been no reports of auditory neuropathy that developed following a pontine hemorrhage. Recently we had a patient who experienced a nontraumatic pontine hemorrhage who was diagnosed with auditory neuropathy. The 34-year-old male patient was admitted to the emergency department with sudden alteration of mental status. His brain computed tomographic imaging revealed a hemorrhage in the central pons. He complained of hearing difficulties after his mental status recovered through conservative treatment, but a pure-tone audiogram showed very mild hearing loss in both ears. Further hearing tests using otoacoustic emissions, which showed normal responses, and auditory brainstem responses, which showed no waveforms at maximum stimulus intensity, revealed that his hearing difficulties were caused by auditory neuropathy. This case implies that the threshold of sound detection can be preserved in patients with pontine hemorrhage who complain of hearing difficulties. Auditory neuropathy should be considered as a possible cause of hearing difficulties in these patients and appropriate hearing tests should be performed.
Adult* ; Brain ; Cochlear Nucleus ; Ear ; Emergency Service, Hospital ; Evoked Potentials, Auditory, Brain Stem ; Hearing ; Hearing Loss ; Hearing Loss, Central ; Hearing Tests ; Hemorrhage* ; Humans ; Male ; Nerve Fibers ; Pons

Superficial siderosis of the central nervous system(SSCNS) is a rare disease characterized by hemosiderin deposition on the surface of the central nervous system. We report a case of SSCNS originating from the thoracic spine, presenting with neurological deficits including, sensorineuronal hearing loss, ataxia, and corticospinal and dorsal column tract signs. The patient underwent dural repair with an artificial dural patch. Clinical findings were elicited by neurological examination, imaging studies, and intraoperative findings, and these were addressed through literature review.
Ataxia ; Central Nervous System* ; Hearing Loss ; Hemosiderin ; Humans ; Neurologic Examination ; Rare Diseases ; Siderosis* ; Spine*