Noninvasive positive-pressure ventilation avoids recannulation and facilitates early weaning from tracheotomy in children.

OBJECTIVE: To show that noninvasive positive-pressure ventilation by means of a nasal mask may avoid recannulation after decannulation and facilitate early decannulation. DESIGN: Retrospective cohort study. SETTING: Ear-nose-and-throat and pulmonary department of a pediatric university hospital. PATIENTS: The data from 15 patients (age = 2-12 yrs) who needed a tracheotomy for upper airway obstruction (n = 13), congenital diaphragmatic hypoplasia (n = 1), or lung disease (n = 1) were analyzed. Four patients received also nocturnal invasive ventilatory support for associated lung disease (n = 3) or congenital diaphragmatic hypoplasia (n = 1). Decannulation was proposed in all patients because endoscopic evaluation showed sufficient upper airway patency and normal nocturnal gas exchange with a small size closed tracheal tube, but obstructive airway symptoms occurred either immediately or with delay after decannulation without noninvasive positive-pressure ventilation. INTERVENTIONS: In nine patients, noninvasive positive-pressure ventilation was started after recurrence of obstructive symptoms after a delay of 1 to 48 mos after a successful immediate decannulation. Noninvasive positive-pressure ventilation was anticipated in six patients who failed repeated decannulation trials because of poor clinical tolerance of tracheal tube removal or tube closure during sleep. MEASUREMENTS AND MAIN RESULTS: After noninvasive positive-pressure ventilation acclimatization, decannulation was performed with success in all patients. Noninvasive positive-pressure ventilation was associated with an improvement in nocturnal gas exchange and marked clinical improvement in their obstructive sleep apnea symptoms. None of the 15 patients needed tracheal recannulation. Noninvasive positive-pressure ventilation could be withdrawn in six patients after 2 yrs to 8.5 yrs. The other nine patients still receive noninvasive positive-pressure ventilation after 1 yr to 6 yrs. CONCLUSIONS: In selected patients with upper airway obstruction or lung disease, noninvasive positive-pressure ventilation may represent a valuable tool to treat the recurrence of obstructive symptoms after decannulation and may facilitate early weaning from tracheotomy in children who failed repeated decannulation trials.

Laryngeal cleft.

Laryngeal clefts are rare congenital anomalies, first described in 1792 by Richter, that allow communication between the tracheal and esophageal axis. The incidence is 1 in 10,000 to 20,000 births, which represents approximately 1.5% of the laryngeal pathology in children. Laryngeal clefts result from a failure of fusion of the posterior cricoid lamina and development of the tracheoesophageal septum. Recent work has further refined our understanding of this complex development.

Utility of radiofrequency ablation for haemorrhagic lingual lymphangioma.

Lymphangiomas of the mouth and tongue pose considerable therapeutic problems. Their complete exeresis is not feasible, and they can be a major functional impediment and cause face and jaw deformities. A risk of secondary growth is classically described after surgical reduction. Invasion of lingual mucosa, often papillomatous, results in accidental biting, recurrent bleeding and pain. Here, we report on 7 cases of children with haemorrhagic mucosal lingual lymphangiomas, one with noteworthy drop in the haemoglobin, treated by surface radiofrequency reduction. With a short follow-up (3-13 months), a functional improvement was observed in every case, as a complete disappearance of bleeding in 5/7 cases, and a moderate local relapse in 2/7 cases. This technique did not induce progressive regrowth. It provides a new therapeutic tool for the treatment of lingual microcystic lymphangioma.

Congenital cholesteatoma: risk factors for residual disease and retraction pockets--a report on 117 cases.

OBJECTIVES: To define predictors of residuals and retraction pockets (RP) in children operated on for congenital cholesteatoma (CC). DESIGN AND SETTING: Retrospective review (1996-2005), academic center. PATIENTS: One hundred seventeen patients treated for CC corresponding to modified Derlacki's criteria were included (median age, 6.5 yr). No case of RP at time of diagnosis, with a mean follow-up of 2.5 years after last surgery. MAIN OUTCOME MEASURES: Clinical and surgical data influencing outcome. Multivariate analysis. RESULTS: Two groups were defined after CC removal: group I (12 cases), no second look required and no case of subsequent re-intervention; group II (105 cases), planned second look always performed (mean delay, 12.1 mo), no difference of sex ratio (M/F = 2). Group I patients were younger than in group II (3.3 vs. 5.9 yr, P < .001). All of them had a normal contralateral eardrum and a disclosure of CC by routine examination (vs. 19% in group II, P < .001). In group I, the mass occupied one or two anterior quadrants (41.6% and 58.4%, respectively) versus more than two quadrants in 46.6% in group II. Residuals and RP rates were 41% and 15%, respectively (only in group II). Predictors for residuals were atticotomy (odds ratio [OR] 2.9, 95% confidence interval [CI] 1.3-6.7) and destruction of stapes (OR 4.3, 95% CI 1.7-10.5). Predictors for RP were eustachian tube extension (OR 6.8, 95% CI 1.7-26.8) and nonreconstructed atticotomy (OR 5.9, 95% CI 1.1-30.9). CONCLUSIONS: Young children with small CC had no recurrences. Residuals were more frequent in case of atticotomy and stapes destruction. RP occurred especially in cases of eustachian tube extension and if cartilage tympanoplasty was not performed. Tympanic and canal wall reinforcement should be considered in extensive CC.

Congenital stapes ankylosis: study of 28 cases and surgical results.

OBJECTIVE: The objective of this study was to analyze functional results after stapes surgery in patients with congenital nonprogressive conductive deafness resulting from an isolated fixation of the stapes according to age and surgical procedure. STUDY DESIGN: The authors conducted a retrospective case series from March 1993 to December 2003 in patients from two tertiary referral centers. METHODS: Twenty-eight patients were operated on by stapedotomy or partial stapedectomy using Teflon stapes prostheses. The median age at surgery was 14.2 years (range, 8.3-29.1 years). Main outcome measures were clinical and audiometric evaluation before and after surgery. Mean air conduction (MAC) and bone conduction (MBC) thresholds were recorded at 0.5, 1, 2, and 4 kHz. The evaluation of functional outcome was based on the MAC gain, the MBC comparison, and the mean postoperative and residual air-bone gaps. RESULTS: The median preoperative MAC was 50 dB (range, 19.0-65.0 dB) with a 35.0 dB median dB air-bone gap. With a mean follow up of 19 months, postoperative hearing improvement was statistically significant: median gain of 32.5 dB (P<.001) and median residual air-bone gap of 3.5 dB. The MBC was also statistically improved with median pre- and postoperative MBC of 11.5 and 6.5 dB, respectively (P<.001). Results were not dependent on the age group or type of surgery (stapedotomy or partial stapedectomy). No perceptive hearing loss was observed despite one gusher case. CONCLUSION: Surgical treatment of isolated congenital stapes ankylosis allows good functional results regardless of age or type of surgery.

The presentation and management of laryngeal cleft: a 10-year experience.

OBJECTIVE: To review the presentation and associated congenital abnormalities of laryngeal cleft and present guidelines for its evaluation and management. DESIGN: A 10-year retrospective study (1994-2004) with institutional review board approval. SETTING: Two pediatric tertiary care medical centers. PATIENTS: Twenty-two pediatric patients (mean age, 21 months) with laryngeal cleft. INTERVENTION: Surgical repair of laryngeal cleft. MAIN OUTCOME MEASURES: Sex, age, symptoms, other associated abnormalities, method of evaluation, type of laryngeal cleft, method of surgical repair, treatment outcome, complications, and long-term follow-up. RESULTS: All 22 patients underwent surgical repair for laryngeal cleft. Airway endoscopy confirmed the following types of laryngeal clefts: type 1 (n = 3), type 2 (n = 10), and type 3 (n = 9). Surgical repair techniques included an open approach with or without interposition graft (n = 16) and an endoscopic approach (n = 6). CONCLUSIONS: Early diagnosis and proper repair of laryngeal cleft are essential to prevent pulmonary damage and associated morbidity. Each patient should be assessed properly, and the surgical approach should be individualized based on the symptoms, other associated findings on airway endoscopy, and type of cleft.

Noninvasive positive pressure ventilation in infants with upper airway obstruction: comparison of continuous and bilevel positive pressure.

OBJECTIVE: This study evaluated the efficacy of noninvasive continuous positive pressure (CPAP) ventilation in infants with severe upper airway obstruction and compared CPAP to bilevel positive airway pressure (BIPAP) ventilation. DESIGN AND SETTING: Prospective, randomized, controlled study in the pulmonary pediatric department of a university hospital. PATIENTS: Ten infants (median age 9.5 months, range 3-18) with laryngomalacia (n=5), tracheomalacia (n=3), tracheal hypoplasia (n=1), and Pierre Robin syndrome (n=1). INTERVENTIONS: Breathing pattern and respiratory effort were measured by esophageal and transdiaphragmatic pressure monitoring during spontaneous breathing, with or without CPAP and BIPAP ventilation. MEASUREMENTS AND RESULTS: Median respiratory rate decreased from 45 breaths/min (range 24-84) during spontaneous breathing to 29 (range 18-60) during CPAP ventilation. All indices of respiratory effort decreased significantly during CPAP ventilation compared to unassisted spontaneous breathing (median, range): esophageal pressure swing from 28 to 10 cmH(2)O (13-76 to 7-28), esophageal pressure time product from 695 to 143 cmH(2)O/s per minute (264-1417 to 98-469), diaphragmatic pressure time product from 845 to 195 cmH(2)O/s per minute (264-1417 to 159-1183) During BIPAP ventilation a similar decrease in respiratory effort was observed but with patient-ventilator asynchrony in all patients. CONCLUSIONS: This short-term study shows that noninvasive CPAP and BIPAP ventilation are associated with a significant and comparable decrease in respiratory effort in infants with upper airway obstruction. However, BIPAP ventilation was associated with patient-ventilator asynchrony.

Cricotracheal resection in children weighing less than 10 kg.

OBJECTIVE: To review cricotracheal resection (CTR) in children weighing less than 10 kg. DESIGN AND SETTING: Retrospective study of 17 patients (mean follow-up, 23 months) from 3 ear, nose, and throat pediatric centers. PATIENTS: Seventeen children (10 boys and 7 girls; mean age, 14.6 months; and mean weight, 7.6 kg) undergoing CTR from June 1995 to March 2003. MAIN OUTCOME MEASURES: Decannulation rates and endoscopies. RESULTS: The cause was congenital subglottic stenosis in 2 children (12%) and acquired subglottic stenosis in 15 (88%). All but 1 had grade 3 or 4 stenosis. The mean hospitalization duration was 34 days. Single-stage CTR was performed in 11 children (65%), with peroperative decannulation in 7. Extubation of these patients occurred between days 3 and 9. Decannulation of the other 6 patients was performed after a median of 15 days. Sixteen (94%) of the 17 children were decannulated. Four patients required additional carbon dioxide laser treatment for subsequent glottic or subglottic edema or granulomas, but no reintubation was necessary. One child could not be decannulated because of bronchopulmonary disease, and subglottic stenosis recurred. Long-term tracheotomy was avoided in all other patients. Another child died of cardiac disease. All other patients remained free of significant subglottic stenosis at follow-up. CONCLUSIONS: Cricotracheal resection in small children weighing less than 10 kg was a safe and effective procedure for severe subglottic stenosis. To our knowledge, this is the first reported attempt of CTR in this weight category, providing results comparable to those published in older children.

The biology and management of subglottic hemangioma: past, present, future.

OBJECTIVES/HYPOTHESIS: Objectives were 1) to review the presentation, natural history, and management of subglottic hemangioma; 2) to assess the affect of five variables (age, gender, degree of subglottic narrowing, location and extent of subglottic hemangioma, and lack or presence of other hemangioma) and the outcome of six different treatment modalities (conservative monitoring, corticosteroid, laser surgery, tracheotomy, laryngotracheoplasty, and interferon) in the management of subglottic hemangioma; and 3) to present specific guidelines to help determine the best possible treatment modality at the time of initial presentation. STUDY DESIGN: Retrospective review in the setting of three tertiary care pediatric medical centers. METHODS: Methods included 1) extensive review of the literature; 2) a systematic review with respect to age, gender, presentation, associated medical problems, location and degree of subglottic narrowing, initial treatment, need for subsequent treatments, outcome, complications, and prognosis; and 3) statistical analysis to determine the effect of five variables (age, gender, degree of subglottic narrowing, location and extent of subglottic hemangioma, and lack or presence of other hemangioma) and the outcome of six different treatment modalities (conservative monitoring, corticosteroid, laser surgery, tracheotomy, laryngotracheoplasty, and interferon). RESULTS: In all, 116 patients with a mean age of 4.7 months were treated. The most common location of subglottic hemangioma was the left side. The range of subglottic narrowing was 10% to 99% (mean percentage, 65%). Twenty-six patients (22%) were managed with a single treatment modality, which included conservative monitoring (n = 13), corticosteroid (n = 11), and tracheotomy (n = 2). Ninety patients (78%) required multimodality treatments. Overall, the treatments included conservative monitoring (n = 13), corticosteroid (n = 100), tracheotomy (n = 32), CO2 laser (n = 66), interferon (n = 5), and laryngotracheoplasty (n = 25). Complication rates included the following: conservative monitoring (none), corticosteroid (18%), tracheotomy (none), CO2 laser (12%), interferon (20%), and laryngotracheoplasty (20%). The following variables showed statistical significance in the outcome of different treatment modality: 1) degree of subglottic narrowing (P < .001), 2) location of subglottic hemangioma (P < .01), and 3) presence of hemangioma in other areas (P < .005). Gender (P > .05) and age at the time of presentation (P > .06) did not show any statistical significance on the outcome of the treatments. CONCLUSION: Each patient should be assessed comprehensively, and treatment should be individualized based on symptoms, clinical findings, and experience of the surgeon. The authors presented treatment guidelines in an attempt to rationalize the management of subglottic hemangioma and to help determine the best possible treatment modality at the time of initial presentation.

Cidofovir plasma assays after local injection in respiratory papillomatosis.

OBJECTIVE: To assess cidofovir plasma concentration after intralesional airway administration for recurrent respiratory papillomatosis. DESIGN: Prospective study. SETTING: Tertiary care teaching hospital. PATIENTS AND METHOD: The study comprised 21 patients (10 children and 11 adults). Plasma samples were collected at 10 and 45 minutes (T10, T45) or at 10 and 60 minutes (T10, T60) after injection. The measurements of cidofovir were performed using a high-performance liquid chromatographic method. RESULTS: Plasma samples were collected at T10 and T45 on 19 occasions from the children and on 17 from the adults. A linear relationship was found between plasma concentration and dose in children (mean dose 1.2 mg/kg; mean cidofovir plasma levels 0.91 and 0.81 microg/mL) but not in adults (mean dose 0.2 mg/kg; mean plasma levels 0.21 and 0.31 microg/mL). The same relationships were found between dose and area under the concentration/time curve (AUC). Four plasma samples were taken in children at T10 and T60: mean dose 1.2 mg/kg and mean plasma concentrations 1.11 and 1.24 microg/mL. Maximum plasma concentration averaged 34% (SD 11%) in children and 62% (SD 33%) in adults, with equivalent plasma level after intravenous infusion of the same dose. CONCLUSIONS: The cidofovir plasma levels were below those leading to toxicity. The levels and the AUC were dose dependent in children but not in adults. Diffusion from the injected site was greatest in a few adults and unpredictable. Because of the great individual variation in diffusion in adults, cidofovir should be used at less than the recommended intravenous dose to prevent any risk of systemic toxicity.

Failures and complications of supraglottoplasty in children.

OBJECTIVES: To study the failures and complications of bilateral supraglottoplasty in children with severe laryngomalacia and to compare children with isolated laryngomalacia (IL) with those who have additional congenital anomalies (ACAs). DESIGN: Retrospective medical record review. SETTING: Two tertiary referral centers. SUBJECTS: A total of 136 consecutive patients, aged 3 days to 60 months (median age, 3 months) who underwent laser or instrumental bilateral supraglottoplasty. Isolated laryngomalacia occurred in 102 children, aged 3 days to 19 months; ACAs were found in 34 children, aged 3 weeks to 60 months. OUTCOME MEASURES: Persistence of dyspnea, sleep apnea, and/or failure to thrive; need for further treatment; minor complications (defined as granuloma, edema, or small web); or major complication (supraglottic stenosis). RESULTS: Failures or partial improvement were observed in 12 (8.8%) of 136 cases, all having ACAs. The overall rate of complications was 7.4% (10/136). There were no significant differences between the IL and ACA groups concerning the rate of recurrence needing revision surgery (3/102, 2.9% vs 3/34, 9%), the rate of minor complications (4/102, 3.9% vs 1/34, 3%), or the rate of supraglottic stenosis (4/102, 3.9% vs 1/34, 3%). Supraglottic stenosis was managed by revision surgery in 4 cases and/or noninvasive ventilatory assistance in 2 cases. The long-term outcome appeared to be better when reintervention could be avoided or was kept to a minimum. CONCLUSION: Failure of supraglottoplasty was only observed in cases of laryngomalacia with ACAs. The complication rate was similar whether or not ACAs were present.

The natural history of congenital cholesteatoma.

OBJECTIVES: To describe the natural history of congenital cholesteatoma (CC) and to determine whether such a description provides clues about the origins and end points of these lesions. DESIGN: A retrospective qualitative analysis of intraoperative illustrations of 34 consecutive patients with 35 CCs (1 bilateral). SETTING: Two tertiary care children's hospitals. PATIENTS: Thirty-four children with CC, mean age, 5.6 years (range, 2-13 years). RESULTS: Congenital cholesteatoma originates generally, but not universally, in the anterior superior quadrant. The progression of growth is toward the posterior superior quadrant and attic and then into the mastoid. Contact with the ossicular chain generally results in loss of ossicular continuity and in conductive hearing loss. CONCLUSIONS: Congenital cholesteatoma appears to have a predictable trajectory of growth, starting as a small pearl in the middle ear, eventually growing to involve the ossicles and mastoid, and causing varying degrees of destruction and functional impairment. The clinical picture of a young child with otorrhea, conductive hearing loss, tympanic membrane perforation in a nontraditional location, and a mastoid filled with cholesteatoma may represent the end point in the natural history of CC, despite the fact that this type of lesion is outside the accepted definition of CC.

Congenital cholesteatoma: classification, management, and outcome.

OBJECTIVES: To assess whether a classification system for congenital cholesteatoma (CC) can be derived from analysis of a large clinical sample of cases and to assess whether such a classification system is a reliable guide for surgical intervention, reexploration, and hearing outcome. DESIGN: A retrospective review of clinical and surgical records of 119 patients with CC. SETTING: Four tertiary care children's hospitals. PATIENTS: One hundred nineteen children with CC (age range, 2-14 years). RESULTS: Congenital cholesteatomas in the anterior mesotympanum were treated successfully with exploratory tympanotomy. Congenital cholesteatomas involving the posterior superior quadrant and the attic usually had concurrent involvement of the incus and stapes and often required a canal wall up tympanomastoidectomy and a second look for its control. Congenital cholesteatoma involving the mastoid usually involved all of the ossicles, was inconsistently controlled with canal wall up tympanomastoidectomy, and had a poor prognosis for restoration of conductive hearing loss. The mean +/- SD age of children with CC was 5.6 +/- 2.8 years, while that of children with acquired cholesteatoma was 9.7 +/- 3.3 years. CONCLUSIONS: The sequence of spread of CC, involving 3 sites, suggests a natural classification system. The CC usually originates in the anterior superior quadrant, but does not consistently remain there, and may variably occupy the middle ear and mastoid and result in ossicular destruction and conductive hearing loss. The location of CC and the involvement of the ossicles is an accurate predictor of the type of surgery necessary for its control and for the success of hearing restoration.

Exclusively endoscopic removal of juvenile nasopharyngeal angiofibroma: trends and limits.

OBJECTIVE: To determine the feasible conditions for exclusive endoscopic resection of juvenile nasopharyngeal angiofibroma. DESIGN: Retrospective study of 20 patients, with a mean follow-up of 22 months. SETTING: Six academic referral hospitals. INTERVENTIONS: All patients had a preoperative computed tomographic or magnetic resonance imaging scan and at least 1 follow-up computed tomographic and/or magnetic resonance imaging scan 6 or 12 months after surgery. Exclusive endoscopic removal was performed using conventional functional endoscopic sinus surgery instrumentation after preoperative embolization. RESULTS: Using Radkowski staging, 4, 7, and 9 patients had stage I, II and IIIA tumors, respectively. Seven patients were operated on for a recurrence after open surgery. Extension toward the sphenoid sinus, pterygomaxillary fossa, or infratemporal fossa could be removed. There was no attempt at endoscopic removal of deep skull base or temporal fossa invasion. The mean surgery duration was 135 minutes; mean dimensions of the tumor were 4.5 x 4 x 3 cm; and mean blood loss was 350 mL (median, 300 mL). No recurrences occurred in this series; there were small asymptomatic remnants in 2 cases. CONCLUSIONS: An exclusively endoscopic management of juvenile nasopharyngeal angiofibroma appears to be effective for small to medium tumors. It should be considered as a first-choice option for these cases (in view of the minimal bleeding, shorter duration, and efficacy).

Usher syndrome and cochlear implantation.

OBJECTIVE: To evaluate the symptoms leading to diagnosis and the quality of rehabilitation after cochlear implantation in Usher syndrome. STUDY DESIGN: Retrospective cohort study. SETTING: ENT department of a tertiary referral hospital. PATIENTS: Among 210 patients given an implantation in the Ear, Nose, and Throat department, 185 were congenitally deaf and 13 had Usher syndrome (7.0%). Five had a family history of Usher, and eight were sporadic cases. Eleven cases were Usher type I, one was Usher type III, and one was not classified. The age at implantation ranged from 18 months to 44 years (mean, 6 years 1 month). The mean follow-up was 52 months (range, 9 months to 9 years). MAIN OUTCOME MEASURES: All patients had audiophonological and clinical examination, computed tomography scan of the temporal bones, ophthalmologic examination with fundoscopy, and an electroretinogram. Cerebral magnetic resonance imaging and vestibular examination were performed in 9 of 13 and 10 of 13 cases, respectively. Logopedic outcome measured preimplant and postimplant closed- and open-set word recognition and oral expression at follow-up. RESULTS: The most frequent initial sign of Usher syndrome was delayed walking, with a mean age of 20 months. Among the 172 other congenitally deaf children with implants, when deafness was not associated with other neurologic disorders, the mean age at walking was 14 months (p < 0.001). The fundoscopy was always abnormal after the age of 5 years, and the electroretinogram was abnormal in all cases. Vestibular function was abnormal in all but one case (nonclassified). The computed tomography scan and the magnetic resonance imaging were always normal. Logopedic results with cochlear implants showed good perception skills in all but one case. The best perceptive results were obtained in children implanted before the age of 9 years. Oral language had significantly progressed in 9 of 13 at follow-up. There was no relation between the visual acuity and the logopedic results. CONCLUSION: The earliest clinical sign associated with deafness evoking Usher syndrome is late walking. The electroretinogram is the only reliable examination to enable the diagnosis. When severe profound deafness is associated with late walking, the electroretinogram should be systematically proposed. Logopedic results are linked to precocity of implantation, and early Usher's diagnosis contributes to optimize speech therapy.

Eye lens radiation exposure and repeated head CT scans: A problem to keep in mind.

OBJECTIVES: The deterministic character of radiation-induced cataract is being called into question, raising the possibility of a risk in patients, especially children, exposed to ionizing radiation in case of repeated head CT-scans. This study aims to estimate the eye lens doses of a pediatric population exposed to repeated head CTs and to assess the feasibility of an epidemiological study. METHODS: Children treated for a cholesteatoma, who had had at least one CT-scan of the middle ear before their tenth birthday, were included. Radiation exposure has been assessed from medical records and telephone interviews. RESULTS: Out of the 39 subjects contacted, 32 accepted to participate. A total of 76 CT-scans were retrieved from medical records. At the time of the interview (mean age: 16 years), the mean number of CT per child was 3. Cumulative mean effective and eye lens doses were 1.7mSv and 168mGy, respectively. CONCLUSION: A relatively high lens radiation dose was observed in children exposed to repeated CT-scans. Due to that exposure and despite the difficulties met when trying to reach patients' families, a large scale epidemiological study should be performed in order to assess the risk of radiation-induced cataracts associated with repeated head CT.

Mucocele after transnasal endoscopic repair of traumatic anterior skull base fistula in children.

OBJECTIVES: To report the long-term sinonasal complications after endoscopic repair of anterior skull base fractures in children. This study describes mucocele formation in 6 patients treated endoscopically for posttraumatic CSF fistulae. We aim to address possible etiologic factors, specific treatments and follow-up modalities. PATIENTS AND METHODS: 12 children, mean age 5.8 years (3-10), treated endoscopically at our institution between 2004 and 2010 for an anterior cranial base fracture complicated by a CSF fistula. An iatrogenic mucocele was observed in 6 cases. A retrospective review of the files of these 6 patients was carried out demonstrating demographic characteristics, presenting signs/symptoms, site of skull base defect, repair technique, timing and onset of the mucoceles, their presentation and management. A systematic CT-scan and/or MRI was carried out at 3 months, 1 year and then annually. RESULTS: 3 patients presented after cranial trauma with persistent CSF nasal leak, and 4 with meningitis. Posttraumatic defects reached the posterior wall of the frontal sinus and the junction of ethmoid and frontal bone in 3 cases, and the cribriform plate in 3 cases. Endoscopic closure was performed in all cases, with the middle turbinate as an overlay patch. No recurrence of a CSF leak was observed. After a mean period of 16 months, a single iatrogenic mucocele was observed in 4 patients (radiological detection only), and multiple mucoceles in 2 patients. Surgical treatment was advocated in cases of proptosis, quick expansion of the mucocele leading to sinus bony wall remodelling or erosion (2 cases), and meningitis related to an erosion of the cribriform plate by the mucocele. Three mucoceles were successfully treated endoscopically, and 1 required an external approach. CONCLUSION: Mucocele incidence after endoscopic repair of skull base fractures in children is not insignificant (50% in our 12 patients series). Paediatric anatomical features, cranial trauma, and the transethmoidal approach may play a role in mucocele pathogenesis. Long-term clinical and radiological follow-up is therefore recommended. These mucoceles may be managed endoscopically with good outcomes.

Cartilage shield tympanoplasty in children: review of 268 consecutive cases.

OBJECTIVE: To assess the efficacy of partial ossicular chain reconstruction using autologous cartilage. DESIGN: Prospective study (April 1, 1997, through January 1, 2008). SETTING: Tertiary academic children's hospital. PATIENTS: Two hundred forty-eight children (268 ears) underwent partial ossicular chain reconstruction using a shaped block of tragal cartilage interposed between the head of the stapes and an underlay tympanic membrane reconstruction along with tragal cartilage and its perichondrium. MAIN OUTCOME MEASURES: Anatomical and audiologic results were evaluated according to the American Academy of Otolaryngology-Head and Neck Surgery guidelines. χ² Tests and multivariate analysis were used for statistical evaluation. RESULTS: Mean age at surgery was 10.9 years. Single-stage surgery was performed in 124 ears (46.3%) (62.9% for cholesteatomas and 32.3% for retraction pockets). Second-look patients (53.7%) included 93.8% of staged surgery. Audiometric results were available for 222 ears at 1 year and for 78 ears at 5 years. Closure of the average air-bone gap (ABG) to within 20 dB was achieved in 62.2% of ears at 1 year. The mean (SD) preoperative and 1-year postoperative ABGs were 25 (11.8) dB and 18.9 (10.3) dB, respectively. Anatomical results were satisfactory in 87.3%. No cases of extrusion, resorption, or displacement of the cartilage were encountered. No statistically significant difference was found between audiometric results at 1 and 5 years. Multivariate analysis showed a significant negative correlation between preoperative and postoperative ABGs and between postoperative otitis media with effusion and postoperative ABG (P < .05). CONCLUSIONS: Cartilage ossiculoplasty is a reliable technique for partial ossicular replacement. Long-term hearing outcomes remain stable and satisfactory. Preoperative ABG and postoperative otitis media are the predictive factors of the hearing outcome.

Autologous fat transfer in velopharyngeal insufficiency: indications and results of a 25 procedures series.

OBJECTIVE: To assess the efficiency of autologous fat transfer (AFT/Coleman procedure) in the management of velopharyngeal insufficiency (VPI). SETTINGS: Tertiary academic center, retrospective case series over a 4 year period. Pre- and post-speech assessment by a speech pathologist using the Borel-Maisonny scale. PATIENTS AND METHOD: Twenty-five (25) procedures were performed on 22 patients during the considered period. Mean age at surgery was 12.4 ± 4.1 years-old. Main associated conditions were 22q11 deletion (n=6 including 2 with cleft palate), isolated cleft palate (n=3), and Robin sequence (n=2). Indications were VPI grade 2a (n=5), 2b (n=11) and 3 (n=6), despite prolonged speech therapy (pre-op mean duration: 4.2 years) and previous surgery (velopharyngoplasty, n=13). Four patients had a contraindication of velopharyngoplasty (aberrant internal carotid arteries). RESULTS AND CONCLUSION: Fat harvesting sites were umbilicus (n=23) and buttock (n=2). Mean injected fat volume was 7.8 ml, in the posterior wall of the pharynx (n=25) the soft palate (n=15), the peritonsillar arches (n=3), and the pre-existing flap (n=3). Mean follow-up was 17 months. Two patients relapsed once and one patient twice, requiring additional injections. Final post-operative examination 1 year after the last procedure showed an improvement of speech in 90% of cases (grade 1, n=2; 1/2a, n=5; 2a n=10; 2b, n=5). AFT is a safe technique indicated in the primary and secondary management of VPI, with stable results on speech. However, if a complete return to normal is difficult to achieve, its simplicity allows multiple procedures in the same patient.

CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs.

Primary ciliary dyskinesia (PCD) is an inherited disorder characterized by recurrent infections of the upper and lower respiratory tract, reduced fertility in males and situs inversus in about 50% of affected individuals (Kartagener syndrome). It is caused by motility defects in the respiratory cilia that are responsible for airway clearance, the flagella that propel sperm cells and the nodal monocilia that determine left-right asymmetry. Recessive mutations that cause PCD have been identified in genes encoding components of the outer dynein arms, radial spokes and cytoplasmic pre-assembly factors of axonemal dyneins, but these mutations account for only about 50% of cases of PCD. We exploited the unique properties of dog populations to positionally clone a new PCD gene, CCDC39. We found that loss-of-function mutations in the human ortholog underlie a substantial fraction of PCD cases with axonemal disorganization and abnormal ciliary beating. Functional analyses indicated that CCDC39 localizes to ciliary axonemes and is essential for assembly of inner dynein arms and the dynein regulatory complex.