Neurolymphomatosis diagnosed after a recurrence of facial palsy.

Neurolymphomatosis (NL) is a rare complication of non-Hodgkin's lymphoma, characterized by the infiltration of lymphoma cells into the peripheral nerves. A 54-year-old woman initially presented with right facial palsy without any other significant symptoms and was diagnosed with Bell's palsy. Despite initial improvement, her condition recurred, prompting further evaluation. Magnetic resonance imaging (MRI) revealed contrast enhancement from the tympanic segment to the surface of the masseter muscle along the right facial nerve and an adjacent mass lesion. Biopsy of the mass revealed a diagnosis of T-cell/histiocyte-rich large B-cell lymphoma. Chemotherapy resulted in complete resolution of facial palsy. Follow-up MRI confirmed the absence of contrast enhancement along the facial nerve. Facial palsy was considered to be caused by NL. This case was classified as that of primary NL because the facial palsy was the first manifestation of a hematologic malignancy. Recurrent facial palsy, which is atypical in Bell's palsy, led to further evaluation with MRI, which finally resulted in the diagnosis of malignant lymphoma. In cases of recurrent facial palsy, clinicians should consider various diagnoses, including that of NL, and advocate early imaging tests and biopsy, if possible, for accurate diagnosis and improved outcomes.

Detailed Clinical Features of PTPRQ-Associated Hearing Loss Identified in a Large Japanese Hearing Loss Cohort.

The PTPRQ gene has been identified as one of the genes responsible for non-syndromic sensorineural hearing loss (SNHL), and assigned as DFNA73 and DFNB84. To date, about 30 causative PTPRQ variants have been reported to cause SNHL. However, the detailed clinical features of PTPRQ-associated hearing loss (HL) remain unclear. In this study, 15,684 patients with SNHL were enrolled and genetic analysis was performed using massively parallel DNA sequencing (MPS) for 63 target deafness genes. We identified 17 possibly disease-causing PTPRQ variants in 13 Japanese patients, with 15 of the 17 variants regarded as novel. The majority of variants identified in this study were loss of function. Patients with PTPRQ-associated HL mostly showed congenital or childhood onset. Their hearing levels at high frequency deteriorated earlier than that at low frequency. The severity of HL progressed from moderate to severe or profound HL. Five patients with profound or severe HL received cochlear implantation, and the postoperative sound field threshold levels and discrimination scores were favorable. These findings will contribute to a greater understanding of the clinical features of PTPRQ-associated HL and may be relevant in clinical practice.

Hearing Recovery After Ejection of Air in a Case of Traumatic Pneumolabyrinth: Mechanism and Management Options.

OBJECTIVE: To describe a case of traumatic pneumolabyrinth and subsequent hearing recovery after ejection of air with transcanal endoscopic surgical exploration. PATIENTS: A 38-year-old man was struck by his child while cleaning his ear with an ear pick made of bamboo, which penetrated deep into the left ear canal. Severe vertigo with vomiting and left hearing impairment ensued. In addition, high-resolution computed tomography demonstrated an air density within the vestibule. INTERVENTIONS: Exploratory tympanotomy was performed endoscopically a day after the injury and air was ejected from the oval window surgically. MAIN OUTCOME MEASURES: High-resolution computed tomography, audiologic testing. RESULTS: Several hours after surgery, the patient's subjective vestibular symptoms lessened and 7 days after surgery, the patient felt slight dizziness when moving his head and no apparent spontaneous nystagmus was observed with an infrared charge-coupled device camera and was discharged from the hospital. Two years later, there are no subjective vestibular symptoms at all and the pure-tone average of his left ear improved to 16.7 dB. CONCLUSION: We presented a case of traumatic pneumolabyrinth and the subsequent hearing recovery after ejection of air following endoscopic exploratory tympanotomy. We propose that initial management for traumatic pneumolabyrinth should be ejection of the air bubble if it is located solely in the vestibule and sparing the cochlea.

Comprehensive analysis of syndromic hearing loss patients in Japan.

More than 400 syndromes associated with hearing loss and other symptoms have been described, corresponding to 30% of cases of hereditary hearing loss. In this study we aimed to clarify the mutation spectrum of syndromic hearing loss patients in Japan by using next-generation sequencing analysis with a multiple syndromic targeted resequencing panel (36 target genes). We analyzed single nucleotide variants, small insertions, deletions and copy number variations in the target genes. We enrolled 140 patients with any of 14 syndromes (BOR syndrome, Waardenburg syndrome, osteogenesis imperfecta, spondyloepiphyseal dysplasia congenita, Stickler syndrome, CHARGE syndrome, Jervell and Lange-Nielsen syndrome, Pendred syndrome, Klippel-Feil syndrome, Alport syndrome, Norrie disease, Treacher-Collins syndrome, Perrault syndrome and auditory neuropathy with optic atrophy) and identified the causative variants in 56% of the patients. This analysis could identify the causative variants in syndromic hearing loss patients in a short time with a high diagnostic rate. In addition, it was useful for the analysis of the cases who only partially fulfilled the diagnostic criteria.

Electrophysiological mapping of the cochlear nucleus with multi-channel bipolar surface microelectrodes.

Auditory potentials in response to electrical stimulation of the cochlear nucleus were recorded in guinea pigs using two types of multi-channel surface microelectrodes with inter-electrode distance of 100 and 200 µm. Unequivocal waves of electrically evoked auditory brainstem responses (EABRs), which increased in amplitude with increasing stimulation current, were consistently observed. Electrophysiological mapping with these multichannel electrodes could clearly distinguish stimulation points showing positive EABRs from points showing undetectable EABRs, indicating that multi-channel surface microelectrodes have great potential in clinical use to determine the optimal location for the positioning of auditory brainstem implants, and may allow more precise discrimination of pitch. Further study to clarify the optimal inter-electrode distance for humans is necessary before application to physiological mapping in the human cochlear nucleus.

New treatment for invasive fungal sinusitis: three cases of chronic invasive fungal sinusitis treated with surgery and voriconazole.

Invasive fungal sinusitis is a relatively rare disease and can be divided into acute fulminant, chronic, and granulomatous invasive fungal sinusitis. The conventional treatment is radical surgery combined with systemic amphotericin B administration, but the poor prognosis and unestablished treatment options require a better therapeutic strategy. We report three cases of chronic invasive fungal sinusitis successfully treated with a combination of surgery and voriconazole, a new antifungal agent, with good responses in all patients. Voriconazole administration could form the basis for a new standard treatment for invasive fungal sinusitis.

[Management of cervical tuberculous lymphadenitis: evaluation of 6 cases].

Unlike other advanced nations, secondary spread of tuberculosis still occurs in Japan. Cervical tuberculous lymphadenitis is still an important disease of the neck, and between 2001 to 2005, we treated 6 patients with cervical tuberculous lymphadenitis. All 6 patients were females, and their ages ranged from 28 to 77 years old (average: 62 years). One patient had received antitubercular chemotherapy for pulmonary tuberculosis 40 years earlier. Two patients had a family history of pulmonary tuberculosis. One patient was an immigrant from Thailand. Three patients underwent open biopsy of the cervical lymph node, and were diagnosed with tuberculosis histologically. The remaining three patients had an abscess, and fine-needle aspiration (FNA) biopsy was performed. The diagnosis of tuberculosis was made by detection of acid-fast bacilli, MTD (Mycobacterium tuberculosis direct test), PCR (polymerase chain reaction), and culture. All six patients were treated with antitubercular chemotherapy for 6-9 months and recovered. MTD and PCR of the FNA sample seemed to enable early treatment. Attention needs to be paid to countries around Japan where tuberculosis is spreading. We suggest that treatment should be performed while at the same time making an effort to grasp the trend of spread in other countries as well as Japan.