Mucopolysaccharidoses (MPS) are a rare group of inherited, metabolic diseases caused by lysosomal enzyme deficiencies that result in cellular accumulation of glycosaminoglycans (GAGs). Accumulation of GAGs leads to progressive multi-system organ dysfunction. We retrospectively analyzed the clinical findings, therapeutic procedures, and outcomes of 16 children with MPS in the department of otolaryngology at a prefectural children’s medical center. We found a high incidence of otitis media with effusion, hearing loss, and airway stenosis as previously reported. Recurrent and persistent otitis media required repeated ventilation tube insertions. Two patients developed progressive hearing loss that resulted in severe bilateral hearing loss. Surgical treatment for upper airway stenosis could not be performed in 2 patients because of difficulty in endotracheal intubation and restricted mouth opening. After tracheostomy, 2 patients frequently developed tracheostomy-related complications such as infratip granulations. Careful evaluation should be conducted before surgical procedures by a multidisciplinary team; aftercare and complications should also be discussed in detail with the patient’s family preoperatively. Seven patients died at a median age of 15 years.

Nine patients received otolaryngological treatment predominantly before they were diagnosed with MPS. Otolaryngologists should consider MPS when examining patients with distinctive physical findings at outpatient clinics.

The association between abnormal patterns of head magnetic resonance imaging (MRI) findings in newborns with congenital cytomegalovirus infection (cCMV) and their neurological outcomes has not been fully elucidated. Of the 60 patients who were diagnosed with cCMV by newborn urine screening, 52, who underwent head MRI, were enrolled in this study. Forty-three (82.6%) of these patients showed abnormalities in either the first or second MRI examinations. In these 43 patients, white matter abnormality (WMA) was confirmed. In addition to WMA, polymicrogyria, ventriculomegaly, and hippocampal dysplasia were observed in 3 of these patients who had serious neurological complications such as intellectual disability, hemiplegia and sensorineural hearing loss (SNHL). On the other hand, there was no significant association between the severity of SNHL and MRI findings. However, interestingly, WMA occurred at a high rate (29 of 37 patients, 78%) among patients, even after about one and a half years; therefore, future studies on this topic are warranted, in order to clarify the clinical significance of WMA.

Cases of vertigo in pediatric patients with vertigo are few as compared with that in adults. Additionally, obtaining information from pediatric patients is challenging, making diagnosis difficult. In this study, we clinically examined children with vertigo in community supported otolaryngology hospitals. We categorized children as infants (1–5 years) and school children (6–15 years) and assessed differences in the disease between the two groups. In all the children, we observed significant orthostatic dysregulation, vestibular neuritis, benign paroxysmal vertigo, and vestibular migraine. In the infants group, while vestibular neuritis was most commonly diagnosed, other disorders, such as congenital nystagmus, dissociative movement disorder, central brain tumor, cerebral tumor after head trauma, and vertigo, were also reported. In the school children group, we observed increased incidences of dizziness similar to that in adults, such as Ménière’s disease, and migraine-related vertigo; moreover, we often observed increased frequency of orthostatic dysregulation.

Pediatric patients with vertigo, especially school children, might often refuse to attend schools because of increased anxiety about dizziness attacks. In addition, vestibular disorders or migraine have been shown to play a causative role in some cases. Thus, psychiatric and psychosomatic approaches should be considered in medical treatment.

The prevalence of headache and migraine in school age is usually determined by questionnaire surveys targeting large groups. In this report, the prevalence of primary headache associated with abnormal eye and/or eyelid movements observed by video-oculogram was determined by directly questioning the patients.

Methods: The 676 subjects (female 345, male 331) consisted of patients ranging from 4 to 18 years of age who consulted and were treated for otolaryngological disorders at an ENT clinic. An otolaryngologist asked the patients whether or not they were experiencing headache and thus determined the type of primary headache according to the criteria of international classification of headache disorders. Video-oculography was performed for primary headache patients to identify any abnormal eye and/or eyelid movements. The prevalence of primary headache associated with abnormal eye and/or eyelid movements observed by video-oculogram was calculated for the total patient population and for both female and male sub-populations. The age distribution and gender differences in the prevalence were also investigated.

Results: The mean prevalence of primary headache associated with abnormal eye and/or eyelid movements observed by video-oculogram was 18.0% in the total, including 21.3% in the female and 15.1% in the male. The age distribution in prevalence was bimodal in both the total and female: the local maximum value was observed 8 and 14 years of ages, and monomodal in male: the local maximum value was 8 years of age. There were no differences in the prevalence between the genders at 13 years of younger; however, from 14 years of age and older, the prevalence in females was significantly higher than that in males.

Conclusion: The bimodal (total, female) and monomodal (male) age distribution and the gender difference regarding the prevalence of primary headache associated with abnormal eye and/or eyelid movements observed by video-oculogram in school age were estimated.

Hearing loss is highly prevalent among children with Down syndrome (DS), but their hearing acuity sometimes improves as they mature. We retrospectively analyzed data on hearing loss collected from 298 children with DS who visited the Department of Genetics at Tokyo Metropolitan Children’s Medical Center between March 2010 and November 2017. Forty-six children with DS who failed their newborn hearing screening or were pointed out of hearing loss were referred to the Department of Otorhinolaryngology. ABR, ASSR, BOA, COR and play audiometry were performed to assess their hearing ability.

At the first assessment, 43 patients had hearing loss in at least one ear, 31 patients had bilateral hearing loss and 12 had unilateral hearing loss. We repeatedly performed the assessment, and 55% of ears with hearing loss eventually showed improvement. At the final assessment, 11 patients had bilateral hearing loss and 24 had unilateral hearing loss. Temporal bone CT was performed to examine the inner and middle ear structures in 14 patients. All eight ears in seven DS children with severe hearing loss showed the cochlear nerve canal stenosis while three of the eight ears also showed narrowing of the internal auditory canal, suggesting that this was the cause of the hearing loss. We detected otitis media with effusion (OME) in 64.9% of ears with hearing loss and performed ventilation tube insertion for 27.1% of these ears. Eleven children with DS started using hearing aids; of these, five showed an improvement in their hearing level and stopped using hearing aids. Only three patients continued using hearing aids. Our findings demonstrated that long-term follow up is important for assessing hearing in children with DS because of the high likelihood of improvement in hearing ability in this population.

In our department, we performed velopharyngeal competence examinations in patients with cleft lip and palate who were suspected of having nasopharyngeal dysraphism. The essential velopharyngeal competence examinations include inspection of the palate, nasopharyngeal fiberscopy, aerodynamic assessment and radiographic lateral view of the soft palate. An examination using a nasometer can be employed as a complemental evaluation of velopharyngeal competence. The assessment using a nasometer involves providing nasalance scores; however, appropriate values or evaluation methods in the patients with cleft lip and palate have not been well established. The aim of this study was to establish the application of nasometer in the evaluation of velopharyngeal competence. Sixty-four patients who had been assessed with a nasometer participated in this study. We found that the results of the basic velopharyngeal competence examinations were significantly correlated with those of the examinations performed with a nasometer in the sound “shi”. Our results of the study suggest that a nasalance score of less than 50% in the sound “shi” might be an appropriate indicator of dysfunction in the evaluation of velopharyngeal competence in children with cleft lip and palate.

In Ishikawa Prefecture, more than 90 percent of newborns receive newborn hearing screening (NHS), and it contributes to early detection of hearing loss. However, no solid follow-up system after NHS existed until the 「Support Center for Hearing Impaired Children in Ishikawa」 was established in 2010. In this center, families of hearing impaired children can receive a basic explanation about hearing loss and hearing aids, and this center can introduce a rehabilitation center to them. Since 2010, this center has received 60 children. In this study, we analyze the details of NHS and the follow-up system and discuss the problems related to treatment and education provided for infants with hearing loss living in Ishikawa prefecture. Future issues include: 1. The percentage of referral is high in NHS. Reducing false positive is an issue to resolve. 2, The activities of the 「Support Center for Hearing Impaired Children in Ishikawa」 are all volunteer. It is expected that the 「Support Center for Hearing Impaired Children in Ishikawa」 will become a public institution.

There are few reports of long-term airway management using a nasopharyngeal airway (NPA) in neonates and infants with an underlying disease. We performed a retrospective chart review of sixteen patients with an underlying disease in whom airway management was attempted using NPA. Five patients were able to be managed using NPA without serious adverse effects or the need for a tracheotomy or respirator. The eleven remaining patients received a tracheotomy due to laryngomalacia or some other reason. We found that NPA can be effective for managing upper airway stenosis in newborns and infants with an underlying disease if its length and placement are adjusted to accommodate the infant’s growth and follow-ups are done to prevent adverse effects.

We investigated the clinical data of 37 children (43 ears) who underwent tympanoplasty for tympanic membrane perforation. The most common cause of perforation was ventilation tube extrusion without spontaneous closure, accounting for 60%. In patients with a history of ventilation tube insertion, 77% had calcification of the tympanic membrane. The rate was consistent with that in previous reports.

We then examined the closure rate of perforation in patients who were followed-up for at least one year after surgery. The closure rate in children was 72% one year after surgery, which was lower than that in adults. We next analyzed the following factors that may affect the closure rate: sex, age at surgery, cause of perforation, size of perforation, site of perforation, calcification of the tympanic membrane, development of mastoid air-cells, bilateral or unilateral, and surgical technique (inlay or underlay, microscopic or endoscopic). Although there was no significant factor, poor development of mastoid air-cells was slightly associated with a high rate of failure.

Purpose: Pyriform sinus fistula is relatively rare disease with congenital hypopharynx fistula that cause neck abscess and acute suppurative thyroiditis. The radical treatment for this disease is fistulectomy using cervical approach. But, recently, it is suggested that chemocauterization of the internal opening of the fistula is safe and effective.

Methods: We retrospectively reviewed six cases (four boys and two girls, aged 4 to 15 years) with pyriform sinus fistula treated with fistulectomy, chemocauterization using by tricholoroacetic acid or silver nitrate between April 2000 and March 2016 at Nagano Children’s Hospital.

Results: Four patients were treated by fistulectomy, one was by tricholoroacetic acid cauterization, and one was by silver nitrate cauterization. Postoperative complications were occurred in the two cases of fistulectomy and one case of chemocauterization. Complications of fistulectomy were hoarseness and neck wound infection. That of chemocauterization was persistence of fistula. There were no recurrent neck abscess and acute suppurative thyroiditis in all cases.

Conclusions: Chemocauterization is less invasive than fistulectomy. Our experiences suggest that chemocauterization is the first choice of treatment for pyriform sinus fistula in children.

There have been a few reports on acute otitis media caused by Mycoplasma pneumoniae, but none on mixed infections with common bacteria. Here we report a case of acute otitis media caused by a mixed infection. The patient was a 19-month-old boy who presented with fever and an intermittent productive cough. He exhibited symptoms of acute nasopharyngitis with postnasal drip, while there was no abnormality of the tympanic membrane. Hence, clavulanic acid/amoxicillin (1:14) was prescribed for 4 days. However, the fever persisted and frequent dry cough was reported. Symptoms of right acute otitis media were noted, and rapid diagnostic evaluation of the pharynx was positive for M. pneumoniae. Penicillin-resistant Streptococcus pneumoniae (PRSP) was isolated from the nasopharynx at the initial examination, and hence, this was considered a case of mixed infection with M. pneumoniae and PRSP. After performing tympanostomy, the patient was prescribed tosufloxacin for 7 days. Subsequently, quick resolution of the fever was noted, while the presence of M. pneumoniae and PRSP was confirmed following evaluation of the middle ear fluid. It was concluded that clinical examination to confirm the presence of a mixed infection (involving M. pneumoniae and a common bacterium) should be considered if dry cough worsens, and the patient exhibits acute otitis media symptoms, while being treated for acute nasopharyngitis.

Mycoplasma pneumoniae is thought to be a common cause of pneumonia and acute pharyngitis. In contrast, reports of pneumonia with concurrent acute epipharyngitis are rare. Here, I report a case of pneumonia due to M. pneumoniae with concurrent acute epipharyngitis confirmed by endoscope. The patient was an 11-year-old girl who was examined due to main complaints of fever, sore throat and headache. Endoscopy revealed purulent exudate on the adenoid. The white blood cell count was 5300/μL and C-reactive protein level was 2.34 mg/dL. A rapid diagnostic test yielded a negative result for Streptococcus pyrogenes. The patient was put on acetaminophen on an as-needed basis and her condition was monitored. Two days later, the fever persisted with worsening of the dry cough and the patient was re-examined. A chest X-ray revealed a cloudy shadow in the right upper lung field. When a rapid diagnostic test for mycoplasma was performed on the throat, the result was positive. Thus, we suspected M. pneumoniae infection and administered clarithromycin for treatment. Two days later, the fever began to resolve. After a total of 10 days of treatment, the patient was cured. M. pneumoniae was detected in purulent exudate and a M. pneumoniae particle agglutination test of the paired sera showed a significant increase; therefore, mycoplasma infection was diagnosed. There are cases in which the first signs of mycoplasma infection are primarily headache due to acute epipharyngitis; thus, caution is required.

The purpose of this case study was to clarify the characteristics of tone-in-noise (TIN) test in estimating true puretone thresholds for functional hearing loss. A series of differential audiometries was carried out to a case of teenager (18 years of age, female) with bilateral mild sensori-neural hearing loss, who was also complicated by functional hearing loss. Obtained thresholds of puretone and SRT showed severe hearing loss, whereas the results of ABR and DPOAE showed mild hearing loss. In the results of TIN test, (1) improbable thresholds shifts (10～20 dB) were found in ipsilateral masking, when narrow-band noises were presented at the same effective masking levels equal to the feigned puretone thresholds, (2) as decreasing noise levels, the responsive puretone thresholds proportionally descended, and (3) the noise detection levels showed similar values within 15 dB to the previous true puretone thresholds obtained in 13 years of age. The findings suggested that the noise detection levels in TIN test could estimate true puretone thresholds in the case with functional hearing loss.