Keishi Fujiwara

Downbeat positioning nystagmus is a common clinical feature despite variable phenotypes in an FHM1 family

Clinical examinations and mutational analyses were carried out in three patients of a Japanese familial hemiplegic migraine (FHM) pedigree. Each affected member demonstrated a broad clinical spectrum that included hemiplegic migraine with progressive cerebellar ataxia, migraine without aura, and episodic ataxia. Despite this variability, all members exhibited marked downbeat positioning nystagmus, and magnetic resonance images (MRI) all showed cerebellar atrophy predominantly of the cerebellar vermis. All affected members had a T666M missense mutation in the protein encoded by the CACNA1A gene (calcium channel, voltage-dependent, P/Q type, alpha 1A subunit). Although clinical features associated with the T666M CACNA1A mutation are highly variable, downbeat positioning nystagmus may be an important clinical feature of this disease.

Hangeshashinto Improves the Completion Rate of Chemoradiotherapy and the Nutritional Status in Patients with Head and Neck Cancer

Purpose: Severe oral and pharyngeal mucositis is one of the most critical toxicities known to lead to the discontinuation of chemoradiotherapy (CRT) for head and neck cancer (HNC). Hangeshashinto (TJ-14) is a Kampo medicine that relieves chemotherapy-induced oral mucositis. We investigated the effect of TJ-14 on mucositis, nutritional status, and the completion rate of CRT. Methods: The study group comprised patients with advanced HNC who were treated with concomitant weekly cisplatin and 70 Gy of radiotherapy. The primary endpoint was the completion rate of chemotherapy, and the secondary endpoints were the grade of mucositis and the nutritional status. Results: A total of 57 patients were included in this study. The completion rate of CRT among patients who were treated with TJ-14 was 91.4%. There was a significant difference in the completion rate of CRT between the groups treated with and without TJ-14 (p = 0.0452). The reduction in body weight was significantly improved from 10.89 to 5.89% with TJ-14 administration (p = 0.003), and the reduction in serum albumin was also significantly decreased from 17.37 to 8.73%. (p = 0.024). Conclusion: This therapy allowed a high completion rate of CRT as well as significant benefits in terms of nutritional status. We plan to carry out a further large-scale study of TJ-14.

A Case of Associated Laryngeal Paralysis Caused by Varicella Zoster Virus without Eruption

We report a patient with significant weakness of the left soft palate, paralysis of the left vocal cord, and left facial nerve palsy. Although the patient showed no herpetic eruption in the pharyngolaryngeal mucosa and auricle skin, reactivation of varicella zoster virus (VZV) was confirmed by serological examination. She was diagnosed with zoster sine herpete. After treatment with antiviral drugs and corticosteroids, her neurological disorder improved completely. When we encounter a patient with associated laryngeal paralysis, we should consider the possibility of reactivation of VZV even when no typical herpetic eruption is observed.

The clinical features and prognosis of mumps-associated hearing loss: a retrospective, multi-institutional investigation in Japan

Abstract Conclusions: The majority of hearing loss due to mumps presents as unilateral profound sensorineural hearing loss, which is refractory to treatment. In rare cases of bilateral total deafness, cochlear implants were beneficial for speech perception. Vaccination against mumps is recommended to prevent mumps-associated hearing loss. Objective: The objective of this study is to investigate the clinical characteristics of hearing loss due to mumps and to evaluate hearing outcomes. Subjects and methods: The clinical parameters were analyzed under a retrospective multi-institutional study design in patients diagnosed with hearing loss due to mumps at the Otolaryngology departments of 19 hospitals between 1987 and 2016. Results: Sixty-seven patients with hearing loss due to mumps were enrolled. The study population consisted of 35 males and 32 females, ranging in age from 1 to 54, with a median age of 9.5 years. Sixty-three patients presented with unilateral, and 4 with bilateral hearing loss. Profound hearing loss was observed in 65 ears. Only one ear with severe hearing loss showed complete recovery. Four patients with bilateral hearing loss received cochlear implant surgery. Most of the patients with hearing loss due to mumps had no history of vaccination.

Two Cases of Heerfordt's Syndrome: A Rare Manifestation of Sarcoidosis.

Heerfordts syndrome is a rare manifestation of sarcoidosis characterized by the presence of facial nerve palsy, parotid gland enlargement, anterior uveitis, and low grade fever. Two cases of Heerfordts syndrome and a literature review are presented. Case  1. A 53-year-old man presented with swelling of his right eyelid, right facial nerve palsy, and swelling of his right parotid gland. A biopsy specimen from the swollen eyelid indicated sarcoidosis and he was diagnosed with incomplete Heerfordts syndrome based on the absence of uveitis. His symptoms were improved by corticosteroid therapy. Case  2. A 55-year-old woman presented with left facial nerve palsy, bilateral hearing loss, and swelling of her bilateral parotid glands. She had been previously diagnosed with uveitis and bilateral hilar lymphadenopathy. Although no histological confirmation was performed, she was diagnosed with complete Heerfordts syndrome on the basis of her clinical symptoms. Swelling of the bilateral parotid glands and left facial nerve palsy were improved immediately by corticosteroid therapy. Sarcoidosis is a relatively uncommon disease for the otolaryngologist. However, the otolaryngologist may encounter Heerfordts syndrome as this syndrome presents with facial nerve palsy and swelling of the parotid gland. Therefore, we otolaryngologists should diagnose and treat Heerfordts syndrome appropriately in cooperation with pneumologists and ophthalmologists.

Idiopathic oculostapedial synkinesis without history of facial nerve palsy.

Objective To report a case of idiopathic oculostapedial synkinesis without facial nerve disorder. Patient A 30-year-old woman with tinnitus synchronous with eye closure is presented. The patient had no history of facial nerve disorder. Result An impedance audiometer, in the absence of an auditory stimulus, was used to record tympanic membrane compliance without sound stimulation, revealing decreased compliance in the concomitant with eye blinking. Her symptoms disappeared spontaneously, so no intervention was undertaken. Conclusion Although oculostapedial synkinesis is often observed as one of the sequelae of facial nerve palsy, idiopathic oculostapedial synkinesis is very rare. The use of an impedance audiometer in the absence of an auditory stimulus is very useful for demonstrating objective changes in the compliance of the tympanic membrane. It is assumed that the cause of the synkinesis in our case was abnormal transmission of signals for orbicularis oculi muscle to the stapedial and orbicularis oris muscles rather than misdirected regenerating fibers. Resection of the stapedial muscle tendon should be considered if her symptoms recur.

Factors affecting the effect of physical rehabilitation therapy for synkinesis as a sequela to facial nerve palsy

OBJECTIVE To investigate factors affecting the effect of physical rehabilitation therapy for synkinesis as a sequela to facial nerve palsy. METHODS A total of 37 patients with peripheral facial nerve palsy in Teine-Keijinkai Hospital were enrolled in this study. All patients showed synkinesis at 6 months after the onset of facial nerve palsy and were instructed in physical rehabilitation by expert staff from their first visit. The degree of synkinesis was evaluated at 6, 9 and 12 months after the onset of facial nerve palsy based on Sunnybrook facial grading system score and asymmetry in eye opening width. The patients were divided into two groups by age, gender, cause of palsy, electroneurography (ENoG) value, onset of synkinesis, initial treatment and timing of the start of physical rehabilitation. RESULTS Female patients and younger patients did not show any deterioration in synkinesis. Patients in the lower ENoG group and the later onset of synkinesis group showed significant deterioration in synkinesis after the 6th month from onset of facial palsy. CONCLUSION Physical rehabilitation was shown to prevent significant deterioration in synkinesis in female and younger patients with facial nerve palsy. Careful follow-up with regard to synkinesis is required in cases in which the facial nerve damage is thought to be severe.

Evaluation of Vestibular Functions in Patients with Vogt-Koyanagi-Harada Disease

Vogt-Koyanagi-Harada (VKH) disease is an idiopathic, multisystem autoimmune disorder characterized by bilateral, diffuse granulomatous uveitis associated with neurological, audiovestibular, and dermatological manifestations. The purpose of this study is to investigate vestibular functions in patients with VKH disease. A total of 43 patients with VKH disease in Hokkaido University Hospital were enrolled in this study. Subjective symptoms such as dizziness or vertigo and the results of various vestibular examinations including nystagmus testing, caloric testing, and vestibular-evoked myogenic potential (VEMP) testing were investigated. Eight of 42 patients (19.0%) complained of subjective vestibular symptoms. On the other hand, 12 of 28 patients (42.9%) showed nystagmus, and 7 of 15 patients (46.7%) showed unilateral or bilateral weakness in the caloric test. VEMP testing was performed for 16 patients. Seven (43.8%) and 8 (50.0%) patients were evaluated as abnormal in cervical VEMP and ocular VEMP testing, respectively. The rate of detection of nystagmus was significantly higher than that of subjective symptoms. As vestibular dysfunction in patients with VKH disease cannot be detected through history taking alone, nystagmus testing, caloric testing, and VEMP testing should be performed to evaluate vestibular functions associated with VKH disease. It is considered that abnormal VEMP findings are associated with otolith organ dysfunction.

The Short- and Long-Term Outcome of Intratympanic Steroid Therapy as a Salvage Treatment for Acute Low-Tone Sensorineural Hearing Loss without Episodes of Vertigo.

Objectives: To evaluate the hearing outcomes of intratympanic steroid (ITS) treatment for patients with acute low-tone sensorineural hearing loss (ALHL) after failure of initial therapy and to investigate the recurrence and progression to definite Ménières disease (MD) during a long-term follow-up. Methods: We retrospectively reviewed the medical records of 90 patients with refractory ALHL who were followed up for at least 1 year between January 2000 and April 2014. Patients who responded poorly to initial medical treatment received intratympanic dexamethasone injections (ITS group) or isosorbide administration for 4 weeks (diuretic group) as salvage treatment options according to their choice of management. The control group did not receive ITS or the diuretic, due to their refusal of both medical treatments. The hearing outcomes were evaluated 1 month, 1 year and 5 years after the completion of the second-line therapy, and the rates of recurrence and progression to MD were measured during a follow-up period of at least 1 year. Results: Twenty-seven patients in the ITS group, 39 patients in the diuretic group and 24 patients in the control group were enrolled. Of these, 12 patients in the ITS group, 15 patients in the diuretic group and 12 patients in the control group were followed up for over 5 years. We found that the recovery rates and the audiometric functional values after 1 month and 1 year in the ITS group were significantly higher than those in the diuretic and control groups. However, there were no significant differences in the recovery rates or the audiometric functional values after 5 years, or in the rates of recurrence and progression to MD between the groups. Conclusions: Salvage ITS therapy can provide a relatively good short-term hearing outcome for ALHL patients who have persistent hearing loss despite conventional treatment. However, both recurrence and progression to MD after treatment were observed in some patients during the long-term follow-up.

Comparison of the University of Pittsburgh staging system and the eighth edition of the American Joint Committee on Cancer TNM classification for the prognostic evaluation of external auditory canal cancer

BackgroundThe purpose was to compare survival differences between patients with external auditory canal (EAC) cancer treated according to the University of Pittsburgh modified TNM staging system and those treated in accordance with the 8th edition of the American Joint Committee on Cancer (AJCC) staging manual on the TNM staging system for cutaneous cancers of the head and neck.MethodsWe performed a retrospective, single-institution review of 60 patients with EAC cancer treated with curative intent between September 2002 and March 2018. Survival outcomes were measured on the basis of the two staging systems.ResultsThe C-index values for the overall survival (OS) rate revealed that the University of Pittsburgh staging system had higher prognostic accuracy than the 8th edition of the AJCC staging system. Univariable and multivariable analysis showed that T classification according to the University of Pittsburgh staging system was an independent predictor of the OS rate (hazard ratio 5.25; 95% confidence interval 1.38–24.9; P = 0.015). Meanwhile, the AJCC staging system could not differentiate T2 from T3–4 cancers.ConclusionThe University of Pittsburgh staging system for patients with EAC cancer is a valuable tool for use in clinical decision-making and predicting survival outcome.