Homozygosity for the V37I Connexin 26 mutation in three unrelated children with sensorineural hearing loss.

Mutations in the Connexin 26 (Cx26) gene have been found to account for approximately 20% of all childhood deafness. This number approaches 50% in documented recessive cases of hearing loss. Two mutations, 35delG and 167delT, account for the majority of reported mutations in this gene, but to date, more than 60 mutations have been described. No other single gene has yet been identified that contributes this significantly to the aetiology of hearing loss. Several mutations in this gene have been found to predominate in specific ethnic populations (167delT in Ashkenazi Jews and 235delC in Japanese individuals). While the majority of mutations found in Cx26 result in frame shifts and premature terminations, a number of missense mutations have also been identified. The V37I missense mutation has been reported as both a polymorphism and as a potentially disease-causing missense mutation. The present authors have identified three unrelated individuals with sensorineural hearing loss who are homozygous for this mutation. One individual is of Philippine ancestry, another is from a Chinese and Cambodian background, while the third is of Chinese ancestry, raising the possibility that this mutation may be more frequent among populations in eastern Asia.

Hearing rehabilitation using the BAHA bone-anchored hearing aid: results in 40 patients.

OBJECTIVE: This study evaluates the U.S. experience with the first 40 patients who have undergone audiologic rehabilitation using the BAHA bone-anchored hearing aid. STUDY DESIGN: This study is a multicenter, nonblinded, retrospective case series. SETTING: Twelve tertiary referral medical centers in the United States. PATIENTS: Eligibility for BAHA implantation included patients with a hearing loss and an inability to tolerate a conventional hearing aid, with bone-conduction pure tone average levels at 60 dB or less at 0.5, 1, 2, and 4 kHz. INTERVENTION: Patients who met audiologic and clinical criteria were implanted with the Bone-Anchored Hearing Aid (BAHA, Entific Corp., Gothenburg, Sweden). MAIN OUTCOME MEASURES: Preoperative air- and bone-conduction thresholds and air-bone gap; postoperative BAHA-aided thresholds; hearing improvement as a result of implantation; implantation complications; and patient satisfaction. RESULTS: The most common indications for implantation included chronic otitis media or draining ears (18 patients) and external auditory canal stenosis or aural atresia (7 patients). Overall, each patient had an average improvement of 32+/-19 dB with the use of the BAHA. Closure of the air-bone gap to within 10 dB of the preoperative bone-conduction thresholds (postoperative BAHA-aided threshold vs. preoperative bone-conduction threshold) occurred in 32 patients (80%), whereas closure to within 5 dB occurred in 24 patients (60%). Twelve patients (30%) demonstrated 'overclosure' of the preoperative bone-conduction threshold of the better hearing ear. Complications were limited to local infection and inflammation at the implant site in three patients, and failure to osseointegrate in one patient. Patient response to the implant was uniformly satisfactory. Only one patient reported dissatisfaction with the device. CONCLUSIONS: The BAHA bone-anchored hearing aid provides a reliable and predictable adjunct for auditory rehabilitation in appropriately selected patients, offering a means of dramatically improving hearing thresholds in patients with conductive or mixed hearing loss who are otherwise unable to benefit from traditional hearing aids.

Parental values in the decision about cochlear implantation.

Parents of children who are deaf are required to make decisions shortly after diagnosis that will affect the child's method of communication and educational placement. This study examines the role of parental values and preferences in this decision making process. Twenty families with a deaf child participated in this study. Parents from 19 of these families completed a multi-attribute preference study, which assesses their preference for different outcomes in four domains, i.e. academic achievement, social life, communication, and emotional well being. In ten of these families, the child had received a cochlear implant. Results indicate wide variability in parental preferences, which do not appear to correlate with the parents' decisions to choose cochlear implantation. Interview data from the study provides some insight into the parents' motivations. The small size of the study limits further analysis of factors that influence parents' choices and suggests further study with larger numbers of families.

Nontuberculous mycobacterial cervical adenitis.

Granulomatous inflammation is a common finding in pathologic evaluation of surgically excised chronic lymphadenopathy in children. Confusion exists regarding diagnosis and management of these lesions. Over a 10-year period at The Children's Hospital of Philadelphia, a total of 81 children were identified with biopsy-confirmed granulomatous lesions of the head and neck, with nontuberculous mycobacteria (NTM) accounting for 67 of the cases. The typical presentation was that of a nontender mass in the cervicofacial area present for weeks to months, unresponsive to antimicrobials. All underwent surgical excision, which was curative in 54 patients; 13 children required additional procedures. This paper reviews NTM, its typical clinical presentation, difficulty in diagnosis, and the methods of treatment.

The effects of gelatin film stents in the middle meatus.

Controversy exists regarding the management of the middle meatus after pediatric functional endoscopic sinus surgery (FESS). To prevent adhesions following pediatric FESS, gelatin film stenting of the middle meatus has been recommended. The effects of stenting, however, have not been established. Fifty-one children with similar degrees of bilateral sinus disease had a gelatin film stent placed in one middle meatus on completion of FESS, while the opposite meatus was not stented. Two to three weeks later at the time of a second, staged procedure, the sides were compared for the presence of the stent, adhesions, granulaion tissue, and patency of the maxillary sinus ostia. In 11 children the postoperative findings were more severe in the side without the stent, whereas in 29 children they were more severe in the stented side. There was no difference between the sides in 11 children. Although gelatin film stenting benefits some children, it should not be used routinely following pediatric FESS but should be reserved for children who are predisposed to develop adhesions or have poor prognostic factors, such as immunodeficiency and ciliary dyskinesia.

Tympanoplasty for the anterior-superior perforation in children.

Anterior-superior perforations of the tympanic membrane have proven more difficult to repair than other perforations, and many investigators have found such repairs to be problematic. We report a technique in which the tympanic membrane is released from the malleus, and the graft is placed medical to the remnant, lateral to the malleus, and medial to the tympanomeatal flap. In a series of 42 cases the short-term surgical success rate (represented by an intact graft at 6 months) was 98%, with 95% of ears remaining free of reperforation to the end of follow-up. Postoperatively, 90% of children had an air-bone gap of 20 dB or less and 100% of children had an air-bone gap of 30 dB or less. Eighty-seven percent of subjects demonstrated a speech reception threshold (SRT) of 20 dB or better, whereas 100% of subjects demonstrated an SRT of 30 dB or better. These results compare favorably with those reported at this institution for repair of perforations of any quadrant in children, and those of other investigators for anterior superior perforations in adults.

Depression in children after tonsillectomy.

Postoperative depression has been reported in adults undergoing open heart surgery and mastectomy. Tonsillectomy is a commonly performed procedure and can be associated with significant morbidity including pain, difficulty swallowing, dehydration, and bleeding. While adults may be able to express their feelings about the postoperative course, children often are unable to express themselves. Because postoperative depression may manifest itself in unusual behavior that is dismissed as "expected," it may go unrecognized. We present three case reports in which the child demonstrated signs of depression following tonsillectomy. We believe that depression following tonsillectomy occurs more frequently than has been recognized. We describe the diagnosis and management of posttonsillectomy depression to increase the otolaryngologist's awareness of this entity.

Type 1 tympanoplasty in children.

OBJECTIVE: To identify factors affecting the surgical success rate and reperforation rate in type 1 tympanoplasty. Controversy continues regarding the advisability of this procedure in young children, largely because of the likelihood of recurrent middle ear disease and eustachian tube dysfunction. DESIGN: Retrospective medical record review of a case series. SETTING: Pediatric hospital that serves both as a primary care and referral center. PATIENTS: All private patients younger than 18 years, undergoing type 1 tympanoplasty from 1985 through 1989, for whom at least 6 months' follow-up was available. Two hundred nine tympanoplasties on 183 patients were included; 22 patients were excluded for insufficient follow-up. MAIN OUTCOME MEASURES: Surgical success was defined by confirmation of an intact tympanic membrane at least 6 months postoperatively. Procedures were deemed long-term successes if the tympanic membrane remained free of perforation to the end of follow-up. RESULTS: The overall short-term surgical success rate was 92%, with 87% of ears remaining free of reperforation to the end of follow-up. If the perforation involved the margin, the surgical success and long-term success rates dropped to 86% and 77%, respectively. Although reperforation was more likely in patients younger than 6 years or in those with contralateral otitis media at surgery, even these groups had long-term success rates of 81% and 74%, respectively. CONCLUSIONS: Tympanoplasty may be considered at any age. Even in young children, there is a high likelihood of return to normal function.

Congenital tracheal stenosis. The otolaryngologist's perspective.

Congenital tracheal stenosis is a rare congenital anomaly, with less than 70 reported cases in the literature. The presenting signs and symptoms of stridor, recurrent pneumonia, and respiratory distress are commonly seen in other conditions. The rarity of congenital tracheal stenosis and the diverse presentations make accurate early diagnosis difficult and frequently lead to inappropriate treatment. We treated three patients with congenital tracheal stenosis who presented with different sites of stenosis. Each patient displayed different symptoms and required individualized management. The treatment of congenital tracheal stenosis depends on identifying the site and extent of the stenosis. We reviewed the embryogenesis and treatment of this abnormality and developed a new classification system that will aid in the management of congenital tracheal stenosis.

Total and partial ossicular replacement prostheses in children.

Although ossicular reconstruction in children may carry a risk of failure because of recurrent middle ear disease, the procedure offers the potential for restoring binaural hearing during the school years when it is so critical. Of a series of 45 reconstructions with total and partial ossicular replacement prostheses, 6 were extruded for a surgical success rate of 87%. Of the successful cases, 74% had air-bone gaps of 30 dB or better, and 74% had speech reception thresholds of 30 dB or better on initial postoperative audiogram. Outcomes for these children were comparable with those reported for adults, supporting the value of early reconstruction.

Tracheobronchomalacia in children.

Tracheobronchomalacia (TBM) is an important cause of airway distress during infancy, but it generally resolves as the airway enlarges. To assess the origin and natural history of TBM, a chart review and telephone survey were conducted for 50 patients with TBM at the Children's Hospital of Philadelphia (Pa). This study revealed that TBM is a relatively common airway abnormality and is found on 15% of all diagnostic bronchoscopies. Prematurity, low birth weight, bronchopulmonary dysplasia, and prolonged ventilation predispose patients to the most severe symptoms. In our study, a tracheotomy with continuous positive airway pressure was required by 75% of the premature infants and 25% of the full-term infants with TBM. Seventy-one percent of all patients underwent decannulation without any other surgical intervention and remained nearly asymptomatic. Some patients could not undergo decannulation because of other airway lesions. In most instances, TBM is a self-limited disease that resolves without surgery.

Glomus tympanicum in infancy.

A glomus tympanicum tumor, limited to the cochlear promontory, was excised from the middle ear of a 6-month-old girl. To our knowledge, there have been no reports of temporal bone paragangliomas occurring at a younger age. Diagnosis, therapy, and the special characteristics of pediatric glomus tumors are discussed.

Endoscopic assessment in children with tracheotomies.

Pediatric tracheotomy is a safe procedure, and the tube can be maintained for a prolonged period. There are, however, few guidelines regarding the endoscopic assessment of the airway following tracheotomy. From January 1988 through December 1989, the Division of Otolaryngology of The Children's Hospital of Philadelphia (Pa) performed tracheotomies on 81 patients. Thirty-two children had direct laryngoscopy and bronchoscopy at the time of the procedure, 1 week later, and at 6-month intervals for a minimum of 18 months. Four children had normal airways while 21 had intraluminal stomal granulomas, 16 had development of subglottic stenosis, nine had collapse of the anterior tracheal wall, and three had development of distal tracheal granulations. Sixteen children had multiple lesions. Anatomic changes occur in the airways of the majority of children with long-term tracheotomies, and endoscopic evaluation is an essential part of their care.

Intramuscular hemangioma of the head and neck.

Intramuscular hemangiomas (IMH) are uncommon tumors in the head and neck region, occurring most often in the trunk and extremities. Preoperative misdiagnosis is common because of the deep location of these tumors. Ten recent cases of head and neck IMH are presented, five of which involve the masseter muscle--the most frequent site of involvement in the head and neck. Masseter IMH occurred almost exclusively in the pediatric age group. The clinical presentation, radiographic and histologic findings, treatment, complications, and outcome of these patients are presented. The vital role of preoperative diagnosis using magnetic resonance imaging (MRI) is discussed, as well as a review of the natural history of IMH and indications for surgical intervention.

Practical aspects of managing the child with apnea.

Sleep apnea is a common problem in children and probably more common than currently realized. Apnea in children may be central, obstructive or mixed. Otolaryngologists are called upon to diagnose and treat obstructive apnea. The most common cause of obstructive apnea in children is adenotonsillar hyperplasia, and several conditions predispose children to sleep apnea. The most severe, and occasionally only, signs occur during sleep. The majority of children can be diagnosed by a careful history from parents or caretakers. However, sleep sonography, pulse oximetry and polysomnography may be needed to assist in diagnosis. The treatment of apnea in children may include medications, but the most common procedure employed to resolve obstructive apnea in children is adenotonsillectomy.

Fibrous dysplasia.

The controversy is this case centers around the management of this lesion, not the differential diagnosis. All the consultants agreed that the history, physical, and CT findings were consistent with various fibroosseous lesions, the most likely being fibrous dysplasia. The need for additional tests varied with a bone scan (Dr. Kearns), a bone scan and CT scan (Dr. McGill), and MRI, MRI angiogram, bone survey, BUN, creatinine, calcium, and phosphorus (Dr. Potsic). Cosmetic and functional changes were considered priorities for the consultants, with orbital compression, malocclusion, tooth eruption, nasal obstruction, and sinusitis (Dr. Kearns), nasolacrimal duct obstruction and orbital compression (Drs. McGill and Potsic) being the concerns. Because this lesion is benign and slow-growing, the consensus is that surgery should be reserved for functional or cosmetic compromise. But how aggressive should one be and what approach should be used? The approaches varied with midface degloving or lateral rhinotomy (Dr. Kearns), midface degloving (Dr. McGill), or a Caldwell-luc and lateral rhinotomy (Dr. Potsic). Assessment of this tumor postoperatively should be with patient examinations and serial CT scans. None of the consultants worried about sarcomatous changes in this tumor.