Hereditary deafness accounts for 50– 60% of congenital deafness cases, and > 100 genetic mutations have been identified. Most are deletions, insertions, and single nucleotide variation. In recent years, copy number variations (CNVs) have also been recognized to cause hearing loss. Herein, we report three cases of hearing loss caused by CNV.

Case 1 was of an 8-year-old girl with mild sensorineural hearing loss. Hearing loss was identified at wellness checkups during her elementary school years. Genetic testing identified homozygous long deletion in the STRC gene. Case 2 was of an 11-year-old girl with moderate sensorineural hearing loss. Her hearing loss was identified before she commenced elementary school. Genetic testing detected homozygous long deletion in the OTOA gene. Case 3 was of a 10 year-old-girl, who is the sister of the girl in Case 2. She had undergone neonatal hearing screening, and moderate sensorineural hearing loss was detected with same genetic variants as those of her sister in Case 2.

STRC and OTOA genes are frequently detected genes in hearing loss cases caused by CNV. Depending on the range of deletion of CNV, it may also affect the flanking sequence. During genetic counseling, it is necessary to consider whether the contiguous gene syndrome can be diagnosed based on phenotypes and genetic testing results.

Hearing loss is a common complication of Down syndrome, along with a variety of other complications. Of 43 ears in 27 children with Down syndrome who had hearing loss, 14 ears in 11 children with sensorineural and mixed hearing loss were examined for the percentage, severity, and cause of sensorineural impairment (sensorineural and mixed hearing loss), as well as cases of hearing aid user and of cochlear malformations.

Although the majority of children with Down syndrome had conductive hearing impairment (70%), there were not a few with sensorineural impairment (33%). Thirty percent of the patients with conductive hearing impairment in Down syndrome had mixed hearing loss. More than half of the patients with sensorineural impairment had cochlear malformations, and it is useful to screen for cochlear malformations by imaging to diagnose the cause of hearing loss in infants and children with developmental delays in whom bone conductometry is not available. Although it is often difficult for children with Down syndrome to wear hearing aids, it is important to promote understanding of hearing aids not only to parents but also to rehabilitation facilities.

Because early childhood is a critical period for language acquisition, the presence of hearing loss can result in significant delays in language development. In this study, we conducted a screening using the Titan interacoustics tympanometer (226 Hz) and distortion product otoacoustic emissions in kindergarten children in Ishikawa Prefecture and verified that this method was effective in ear disease screening in early childhood. Of the 65 children eligible, the REFER rate was 18.5%. Excluding eustachian tube stenosis, the positive predictive value of the workup was 44.4%. The screening method used in our study allowed for the identification of twice as many children with hearing loss compared to those identified using the screening method of the Ministry of Health, Labor and Welfare. It is noteworthy that our method was able to detect unilateral otitis media with effusion, which is not able to be detected using the Ministry of Health, Labor and Welfare method. By further developing this research, we hope to detect hearing loss in as many children as possible who otherwise would receive a “pass” when tested using conventional hearing screening methods conducted by the Ministry of Health, Labor and Welfare and provide options for treatments for hearing loss and language development.

With the progress of medical care, the lifesaving rate of premature babies in Japan is high, and the number of infants undergoing tracheostomy is increasing proportionally. Compared to adults, tracheostomy in infants carries a higher risk of complications, necessitating more careful surgery and specific indications. For safety reasons, it is recommended to perform tracheostomy when the infant weighs 3000 g or more, if it is possible to stand by. However, in recent years, there have been increasing reports of tracheostomy being performed during Ex utero intrapartum treatment procedures for ultra-low birth weight infants. There has also been an increase in the number of cases in which tracheostomy is required in a low birth weight infant without waiting for a weight gain of up to 3000 g. In our case, tracheostomy was performed on a patient weighing approximately 1100 g because tracheal intubation was clinically difficult to manage. Adjusting the type and position of the cannula in preoperative image evaluation, postoperative tracheal endoscopy, and image examination was beneficial in preventing serious postoperative complications.

Tracheal and bronchial foreign bodies are important in the field of otorhinolaryngology. Most foreign bodies are food. The most common complications are pneumonia and atelectasis. We describe a 9-year-old boy who accidentally ingested a tooth, which was complicated by subcutaneous emphysema and mediastinal emphysema. Since the patient did not report accidental ingestion, an initial diagnosis of pneumonia was made; however, subcutaneous emphysema increased, leading to the diagnosis of a bronchial foreign body. Extraction of the tooth was difficult, but after removal, the subcutaneous and mediastinal emphysema resolved quickly, and the patient was discharged from the hospital.

A witness to accidental ingestion makes the diagnosis of tracheal and bronchial foreign bodies straightforward; however, if there is no witness, the diagnosis is more difficult. It is important to suspect accidental ingestion of a foreign body, especially for patients presenting with pneumonia and atelectasis. There have also been reports of death due to hemorrhage during removal of bronchial dental foreign bodies; thus, attention should be paid to potential adverse events.

The main symptoms of PFAPA syndrome are periodic fever, aphthous stomatitis, pharyngitis, tonsillitis, and cervical lymphadenitis. Remission may be spontaneous or achieved with conservative treatment including long-term oral medication such as steroids and cimetidine. Moreover, it shows a high remission rate after palatine tonsillectomy. In this study, we investigated the clinical symptoms and treatment course in four patients (three male, one female; average age, 10.1 years [range, 5–16 years]) who underwent tonsillectomy at our department. All patients were taking oral steroids before treatment. Postoperatively, no patient required oral medications, and follow-up was completed without recurrence. Surgery has a higher completion rate than conservative treatment. Considering the risk of pediatric surgery, tonsillectomy should be reserved for patients requiring long-term oral medications such as steroids that affect the general condition.

Congenital tongue base cysts are an important cause of breathing problems in newborns. We report our experience with a 20-day-old newborn who had a tongue base cyst discovered after presenting with a feeding disorder. Although there were no respiratory abnormalities such as retractive breathing or upper airway stenosis sounds at initial examination, blood-gas analysis suggested chronic obstructive respiratory disease. After hospitalization and close assessment, we diagnosed a tongue base cyst. Surgery was performed the day after admission. Intubation was complicated, and the cyst was unexpectedly ruptured during laryngoscopy. After this, intubation was much easier and the cyst was resected under general anesthesia. The tongue base was elevated and the field of view was secured using a laryngoscope, and the cyst was resected transorally. After discharge from the hospital, the patient’s feeding disorder improved and weight gain was noted. The patient has been doing well since surgery, with no evidence of cyst recurrence.

Hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome is an autosomal dominant disorder defined by hypoparathyroidism, sensorineural hearing loss, and renal dysplasia, although all three may not be necessarily present. Sensorineural hearing loss is the most frequent manifestation of HDR syndrome with only a few reports on its auditory course. In this study, we experienced cases of three sisters who were diagnosed with HDR syndrome after being diagnosed with hearing loss in childhood. They each had hypoparathyroidism and sensorineural hearing loss with no renal dysfunction or abnormal renal morphology. The second daughter’s hearing remained unchanged, but the oldest daughter showed a hearing loss progression of 2.1 dB/year and the third daughter 1.8 dB/year. We report the diversity of symptoms of HDR syndrome and the progression of hearing loss in three sisters who were observed over a long time.

Facial nerve paralysis due to acute otitis media is more common in children than in adults. Treatment can be conservative or surgical; however, there is no standard treatment option in children. In the present study, we describe two cases of facial paralysis associated with acute otitis media of different severity in 1-year-old infants, both of whom recovered by conservative treatment. Patient 1 presented with otorrhea and right facial paralysis following an upper respiratory tract infection that persisted for more than a week. Bilateral severe acute otitis media with right mastoiditis and complete right facial paralysis were observed. The patient was treated conservatively and had recovered by day 74. Patient 2 developed left facial paralysis following a fever, and was administered antiviral drugs and steroids by a pediatrician. The patient developed moderate left acute otitis media the next day. Myringotomy was performed and intravenous antimicrobial drug was administered, and the patient had recovered by day 28.

Our findings suggest that conservative treatment is a suitable first option in infants with acute otitis media and facial paralysis, in the absence of destruction of the mastoid air cells or abscess formation. Surgery may be selected as a secondary option if there is no improvement with conservative treatment.