Bilateral Rhinogenous Optic Neuropathy Caused by the Regrowth of a Large Sphenoid Sinus Mucocele.

A 59-year-old man, who had a history of left blind at 36 years old, suddenly lost right visual acuity. Magnetic resonance imaging revealed a large left sphenoid sinus cyst, which protruded intracranially. The cyst was fenestrated by endoscopic sinus surgery, but his right vision did not recover. Ten cases of bilateral rhinogenous optic neuropathy caused by mucocele have been reported, and the cause was sphenoid sinus in 9 cases. Postoperative visual acuity in these cases was poor, especially in slow progressive cases, because it was diagnosed as an unknown cause, and surgery was delayed. Rhinogenous optic neuropathy caused by mucocele should be differentiated from bilateral visual impairment of unknown cause. The authors highlight the importance of early diagnosis of sphenoid sinus mucocele and fully informing patients about the future risk of bilateral visual impairment, even if they are asymptomatic or have been treated.

CT analysis of predictors for visual acuity in optic neuropathy with mucocele.

OBJECTIVE: To evaluate the causative and risk factors for optic neuropathy with mucocele via imaging studies. METHODS: We included 21 patients with rhinogenous optic neuropathy with mucocele. We collected data on the sinus involved, age, sex, number of days from the onset of visual impairment to surgery, and computed tomography (CT) imaging findings (bone defects in the lamina papyracea, Onodi cell mucocele, exophthalmos, and optic nerve deviation). The results were compared between two groups, the one having nine patients with pre-operative visual acuity of <0.1 (the poor group) and the other having 12 patients with pre-operative visual acuity of ≥0.1 (the fair group). Whether or not there was a difference in pre-operative visual acuity between patients with and without Onodi cell mucocele was determined. RESULTS: After surgery, visual acuity improved in 16/21 (76.2%) patients, and a correlation analysis showed a significant positive correlation between pre-operative and post-operative visual acuity. In imaging, the causative sinuses accounted for 85.7% of both posterior ethmoid and sphenoid sinuses. Bone defects of the lamina papyracea at the optic canal and the vertical downward deviation of the optic nerve at each location, especially in 6/9 patients with Onodi cell mucocele, were characteristic in the poor group. In these conditions, increasing the contact areas of the optic nerve and mucocele can leads to more chances of direct downward compression of the optic nerve and infection occurring, and it may lead to severe pre-operative visual impairment. CONCLUSION: Imaging studies of optic neuropathy with mucocele help to determine the risk factors and perform early and precise diagnostic imaging and decision-making for surgery.

Detailed clinical features and genotype-phenotype correlation in an OTOF-related hearing loss cohort in Japan.

Mutations in the OTOF gene are a common cause of hereditary hearing loss and the main cause of auditory neuropathy spectrum disorder (ANSD). Although it is reported that most of the patients with OTOF mutations have stable, congenital or prelingual onset severe-to-profound hearing loss, some patients show atypical clinical phenotypes, and the genotype-phenotype correlation in patients with OTOF mutations is not yet fully understood. In this study, we aimed to reveal detailed clinical characteristics of OTOF-related hearing loss patients and the genotype-phenotype correlation. Detailed clinical information was available for 64 patients in our database who were diagnosed with OTOF-related hearing loss. As reported previously, most of the patients (90.6%) showed a "typical" phenotype; prelingual and severe-to-profound hearing loss. Forty-seven patients (73.4%) underwent cochlear implantation surgery and showed successful outcomes; approximately 85-90% of the patients showed a hearing level of 20-39 dB with cochlear implant and a Categories of Auditory Performance (CAP) scale level 6 or better. Although truncating mutations and p.Arg1939Gln were clearly related to severe phenotype, almost half of the patients with one or more non-truncating mutations showed mild-to-moderate hearing loss. Notably, patients with p.His513Arg, p.Ile1573Thr and p.Glu1910Lys showed "true" auditory neuropathy-like clinical characteristics. In this study, we have clarified genotype-phenotype correlation and efficacy of cochlear implantation for OTOF-related hearing loss patients in the biggest cohort studied to date. We believe that the clinical characteristics and genotype-phenotype correlation found in this study will support preoperative counseling and appropriate intervention for OTOF-related hearing loss patients.

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.

Chronic necrotizing pulmonary aspergillosis following cryptococcal infection of the lung.

A 64-y-old male with steroid-induced diabetes mellitus was admitted to our hospital because of a nodular shadow found by chest radiography. Pathological examination revealed pulmonary cryptococcosis, and he was positive for serum Cryptococcus antigen. After oral treatment with fluconazole, he experienced clinical and radiographic improvement, but during ensuing observation without antifungal treatment his respiratory symptoms gradually worsened. Chest radiography showed progressive infiltration around the cavity, and Aspergillus mold was isolated by transbronchial lung biopsy from the lesion where previous cryptococcal infection was present. In addition, serum antibodies to Aspergillus antigens were demonstrated by immunodiffusion. Thus, pulmonary aspergillosis was found to complicate a case of pulmonary cryptococcal infection.