Juvenile otosclerosis: a case presentation and review of the literature.

Otosclerosis in childhood and adolescence or juvenile otosclerosis is a rare disorder resulting in conductive hearing loss. A 9-year-old boy presented to our clinic, suffering from moderate hearing loss. According to his parents, his hearing acuity had progressively deteriorated over the past 2 years. Otoscopy and tympanometry revealed bilateral secretory otitis media and the patient underwent bilateral grommet insertion. However, he continued to report of hearing loss and a right exploratory tympanotomy was performed. Stapedial fixation was confirmed, being compatible with juvenile otosclerosis, and we proceeded to a right stapedotomy. One year later, follow-up showed satisfactory outcome with an air-bone gap closure to 10 dB. Juvenile otosclerosis with the coexistence of persistent secretory otitis media can be overlooked. Affected children from 9 years of age are strongly motivated to undergo stapes surgery for juvenile otosclerosis, following parental consent.

A rare case of a spontaneous neck hematoma in a patient with type 1 neurofibromatosis.

Neurofibromatosis type 1 (NF-1) is a genetic disorder that affects one in 3000 individuals. Although NF-1 notably involves nerves and connective tissue, vascular involvement in large series is estimated to range from 0.4% to 6.4%. Jugular vein involvement in these patients is rare. Spontaneous neck hematomas and hemorrhages are also unusual. We present a case of a NF-1 patient with a spontaneous neck hematoma with possible leakage from the left internal jugular vein, presenting as a lateral neck mass. The fragility of the vein wall and the surrounding tissue led patient to a severe intraoperative bleeding. Pathological examination revealed degenerated neurofibroma which was in contact with or infiltrated the vein wall. ENT and other clinicians should be aware of this potentially fatal entity considering that it may present as a lateral neck mass.

Repair of Temporal Bone Encephalocele following Canal Wall Down Mastoidectomy.

We report a rare case of a temporal bone encephalocele after a canal wall down mastoidectomy performed to treat chronic otitis media with cholesteatoma. The patient was treated successfully via an intracranial approach. An enhanced layer-by-layer repair of the encephalocele and skull base deficit was achieved from intradurally to extradurally, using temporalis fascia, nasal septum cartilage, and artificial dural graft. After a 22-month follow-up period the patient remains symptom free and no recurrence is noted.

Clinically isolated syndrome manifested as acute vestibular syndrome: bedside neuro-otological examination and suppression of transient evoked otoacoustic emissions in the differential diagnosis.

A case of a 34-year old woman with acute vestibular syndrome caused by a demyelinating lesion in the root entry zone of the 8th cranial nerve is presented. Neuro-otological bedside examination and suppression of transient evoked otoacoustic emissions provided objective clinical evidence of a retrolabyrinthine lesion. Magnetic resonance imaging and the presence of oligoclonal IgG bands in cerebrospinal fluid analysis established the diagnosis of clinically isolated syndrome. This case report highlights the clinical information provided by the neuro-otologist in the differential diagnosis of the acute vestibular syndrome and the diagnosis of possible multiple sclerosis.

Bilateral secondary neurolymphomatosis of the internal auditory canal nerves: a case report.

BACKGROUND: Neurolymphomatosis describes the malignant lymphomatous infiltration of nerves. METHODS: We encountered a unique case of a 47-year-old patient with non-Hodgkin's lymphoma presenting with bilateral sensorineural hearing loss, vestibular dysfunction and bilateral facial nerve palsy. RESULTS: Magnetic resonance imaging demonstrated enhancement and thickening of internal auditory canal nerves bilaterally consistent with neurolymphomatosis. Patient was treated with combined intrathecal chemotherapy and total brain irradiation. CONCLUSIONS: One must always remain vigilant for metastatic disease in patients with sensorineural hearing loss and/or vestibular dysfunction and facial nerve palsy in the context of known malignancy.

MYH9-related disorders: report on a patient of Greek origin presenting with macroscopic hematuria and presenile cataract, caused by an R1165C mutation.

Myosin heavy chain-9 (MYH9)-related disorders represent a heterogenous group of hereditary diseases caused by mutations in the gene encoding the heavy chain of nonmuscle myosin IIA. May-Hegglin anomaly and Fechtner, Sebastian, and Epstein syndromes are the four phenotypes of the disease, characterized by congenital macrothrombocytopenia and distinguished by different combinations of clinical signs that may include glomerulonephritis, sensorineural hearing loss, and presenile cataract. The spectrum of mutations responsible for the disease is wide and the existence of genotype-phenotype correlation remains a critical issue. We report the first case of an MYH9-RD in a patient of Greek origin presenting with macroscopic hematuria and presenile cataract caused by a p.R1165C mutation. The same mutation was present in the patient's father, who exhibited no extrahematological features of the disease. The p.R1165C mutation is one of the MYH9 alterations whose prognostic significance is still poorly defined. Thus, the patients described add to the limited existing data on the MYH9 mutations and their resultant phenotypes.

Predicting the long-term outcome after idiopathic facial nerve paralysis.

OBJECTIVE: To investigate long-term recovery after Bell's palsy and evaluate specific parameters for predicting the long-term outcome of facial weakness. STUDY DESIGN: Retrospective clinical study combined with long-term follow-up. SETTING: Tertiary care university hospital (Department of Otorhinolaryngology, Head and Neck Surgery, University of Thessaloniki, Greece). PATIENTS: Forty-four patients who were followed up 2 to 6 years (mean, 4.01 yr) after the onset of facial weakness. MAIN OUTCOME MEASURES: The failure rate of complete recovery was studied for age, initial nerve excitability test, electroneurography, initial severity of paralysis, and number of days from onset of facial weakness to the start of medical treatment. RESULTS: Thirty-two (73%) of 44 patients had a satisfactory outcome, and 12 (27%) had a nonsatisfactory recovery. Initial House-Brackmann grades V/VI and electroneurographically detected degeneration of 90% or more were shown to affect the long-term outcome of facial weakness significantly (p = 0.024 and p = 0.000, respectively). CONCLUSION: The initial severity of facial weakness and the electroneurographically detected facial nerve degeneration were found to be important factors in predicting the long-term prognosis of Bell's palsy.

Hearing Evaluation in Patients with Exfoliative and Primary Open-Angle Glaucoma.

OBJECTIVE: The aim of this prospective study was to audiologically evaluate consecutive glaucoma patients with or without exfoliation. STUDY DESIGN: Prospective study. SETTING: Glaucoma Unit and Audiology Department at a university hospital. SUBJECTS AND METHODS: Consecutive subjects with exfoliative glaucoma (XFG) or primary open-angle glaucoma (POAG) aged between 50 and 70 years were enrolled. Auditory thresholds at 0.5, 1.0, 2.0, 4.0, and 8.0 Hz were measured bilaterally. Cochlear activity was assessed by recording distortion product otoacoustic emissions (DPOEs). Functional changes in the retrocochlear auditory pathway were evaluated by auditory brainstem responses (ABRs). RESULTS: One hundred and ten patients with XFG and 85 patients with POAG who presented in a glaucoma clinic were investigated. The mean age of study patients was 66.2 ± 5.6 years; range, 50-70 years). The odds of pathologic ABR central transmission time (interpeak latencies I-III, III-V, and I-V and waves I, III, and V) were 4.34 times higher in patients with XFG than in patients with POAG (95% confidence interval [CI], 2.22-8.49; P < .001). This significant association remained after adjusting for sex and age (odds ratio [OR] 4.12; 95% CI, 2.07-8.22; P < .001). Furthermore, the odds of ABR remained significantly higher in patients with XFG than in patients with POAG (OR 4.36; 95% CI, 2.10-9.06; P < .001) after controlling for systemic diseases (arterial hypertension, coronary heart disease, high cholesterol, and stroke). CONCLUSION: In the first study to compare XFG and POAG monitoring of the peripheral and central auditory pathway, it has been documented that XFG patients show a greater prevalence of retrocochlear pathology.