Report of 2 pediatric cases with atypical Cogan's syndrome and a systematic review.

Cogan's syndrome (CS) is a rare inflammatory disease characterized by interstitial keratitis or uveitis, vestibular impairment, and progressive hearing loss, commonly bilateral. Although glucocorticoids are fundamental treatment options, in most cases, hearing loss gradually worsens. Herein we report 2 pediatric cases of CS who were treated with corticosteroids and methotrexate. One patient had a cochlear implant, and the hearing of the other patient improved with treatment. Also, a systematic literature review was conducted for articles including pediatric CS patients. In the literature, 34 articles describing 44 pediatric patients with CS were identified. Sudden hearing loss (95.3%) and ocular symptoms (92.5%) were the most common manifestations in these patients. Also, aortic involvement was present in 19.5% of patients in the literature. Otorhinolaryngologists, ophthalmologists, and pediatricians should collaborate to diagnose and manage CS to prevent progressive hearing loss and eye involvement.

Sensory, voluntary, and motor postural control in children and adolescents with mucopolysaccharidosis.

OBJECTIVES: This study aimed to investigate automatic and voluntary motor control performances, which have an important function in maintaining balance, in children and adolescents with mucopolysaccharidosis (MPS). METHODS: The records of 70 patients were retrospectively analyzed. The results of Computerized Dynamic Posturography (CDP) performed according to the age and development of the individuals were examined. The results of 10 children and adolescents with MPS (mean age: 9.43 ranging from 6 to 14; four males and six females) who completed the sensory analysis, Weight-Bearing Squat Test, and Adaptation Test were retrieved from the database of the CDP. Nine healthy children and adolescents with typical development (mean age: 9.63 ranging from 6 to 14; four males and five females) were included as the control group. RESULTS: In the sensory analysis test, there was a statistically significant difference between the two groups in the visual ratio parameter. In the adaptation test, there was a statistically significant difference between the two groups in the toes up and toes down trials. There was no statistically significant difference between the groups in the Weight-Bearing Squat test at 0° knee extension and various knee flexions. CONCLUSIONS: Children and adolescents with MPS should be directed to the appropriate exercise and therapy programs to develop postural and balance control, which have a significant effect on their quality of life and the ability to independently perform daily activities of living. In addition to routine hearing assessments for patients with MPS, other objective tests used in the differential diagnosis of balance and vestibular system should also be implemented.

Endonasal choanal atresia repair; evaluating the surgical results of 58 cases.

BACKGROUND: Choanal atresia is the most common congenital nasal anomaly, with an incidence of 1:5000-1:8000 live births. Atresia can be seen as membraneous, bony or mixed type. When it is bilateral, it is accepted lifethreatening, therefore bilateral atresia necessitates immediate intervention. Diagnosis is confirmed by endoscopic examination and computed tomography. The absolute treatment is surgical, and different approaches have been proposed. METHODS: Herein, we describe our 15-year experience in the treatment of 58 patients of congenital choanal atresia with transnasal endoscopic approach, and we compare the efficacy of placement of an intranasal stent and applying mitomycin while endoscopic microsurgical repair. RESULTS: The study included 41 female patients (71%) and 17 male patients (29%) with congenital CA. The mean age was 3 years ranging from 10 days to 16 years. The atretic plate was bilateral in 24 patients (41%) and unilateral in 34 (59%). The most common atresia type was the mixed type with 29 patients (50%). A total of 17 patients (29%) required postoperative revision(s). Postoperative revisions were more frequent among patients with bilateral CA (50%), and with mixed CA (31%). Stenting was used additionally by surgical correction for 10 patients. After stenting, fibrosis and restenosis was seen in 7 patients (79%). Mitomycin C was applied peroperatively in 8 patients. Restenosis after mitomycin application was seen in 4 patients (50%). CONCLUSIONS: By our experience, endoscopic microsurgical repair of atresia proved to be an effective and safe procedure, results compared with adjuvant treatment modalities like stent or mitomycin C use, was not better. Restenosis was the major problem seen after surgical correction.

Evaluation of hearing in pediatric familial Mediterranean fever patients during attack period and attack-free period.

OBJECTIVES: Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disease worldwide. It usually has a childhood onset and is characterized with recurrent attacks with irregular intervals. Few studies have been performed to investigate hearing in FMF patients ran with various tests and showed different results. In this study, first time in the literature, we aimed to evaluate and compare auditory functions in pediatric FMF patients during the attack periods and attack-free periods to see the possible effects of autoinflammation that was caused by FMF attacks. METHODS: 40 pediatric FMF patients (80 ears) enrolled in the study as study group and 21 matching (42 ears) healthy children as a control group. Blood samples were taken from patients who presented clinical attack symptoms. Control group and FMF patients that were in attack period underwent audiometric evaluation including pure tone audiometry (0.25, 0.5, 1, 2, 4, 8 kHz) and Distortion product otoaoustic emission (DPOAE) (1, 1.4, 2, 2.8, 4 kHz) test. The tests were repeated in attackfree period. Correlations between hearing results and C-reactive protein, erythrocyte sedimentation rate levels, duration of disease, age at disease onset, colchicine usage time, cumulative dosage of colchicine and the number of attacks in the last six months were studied. RESULTS: Hearing thresholds of FMF patients, compared to control group, were found to be increased at most frequencies. Lower signal/noise ratios (SNR) were detected at most frequencies in the DPAOE test. In the attack period compared to attack-free period, hearing thresholds in the audiometry were found to be increased at some frequencies (p < 0.05). However, this was not supported by the DPOAE test. In correlation analysis, increased colchicine usage time and colchicine cumulative dosage were associated with decreased thresholds in audiogram and increased SNR values in DPOAE. Detailed statistical analyses of all parameters were included in the study. CONCLUSION: Results demonstrated cochlear involvement in FMF patients. Acute changes in hearing thresholds in the attack period may be suggesting the effect of acute inflammation on cochlea. The difference between the audiometry and otoacoustic emission test results of FMF patients and healthy controls suggests the cumulative effect of recurrent inflammation attacks on cochlea. Positive affect of treatment of the disease with long term colchicine in hearing were also demonstrated.

Flow-volume curve in the diagnosis and follow-up of intrathoracic airway obstruction.

Spirometry is an easy method to measure lung function and to show pathophysiology. It assists not only to determine the severity of bronchial obstruction in asthma but also to differentiate the characteristics of the intrathoracic diseases narrowing the central airways. Different types of benign and malignant tumors of the trachea may cause emergence of symptoms of airway obstruction. Herein a patient who had been initially diagnosed with asthma but later on shown to have intratracheal myofibroblastic tumor is presented. The importance of flow-volume curve in both initial diagnosis of the mass and in the detection of recurrence is discussed.

Otorhinolaryngological, audiovestibular and swallowing manifestations of patients with Niemann-Pick disease Type C.

OBJECTIVES: The aim of this study is to evaluate audiovestibular and swallowing impairment of patients with NPC. METHODS: Audiovestibular and swallowing evaluation were performed on patients with Niemann-Pick disease type C (NPC) at Hacettepe University between 20013 and 2015 prospectively. Pure-tone audiometry (PTA), Auditory Brain stem response (ABR), Flexible endoscopic evaluation of swallowing (FEES) test and posturography were done. Hearing, swallowing and balance states were measured. RESULTS: There were 16 patients (5 male and 11 female, with a median age of 6.5 years old). The most common ABR abnormalities observed were absent waves I and III (%70 absent I waves, %43.75 absent III waves). Twelve of sixteen patients (%75) had an ABR abnormality in at least one ear, of these, four patients had normal hearing and three of them had periferal hearing loss. 12 (75%) patients had complaint of postural imbalance. 11(69%) of patients had peripheral and one (6%) patient had central impairment. Nine of sixteen patients (56.25%) show some degree of dysphagia (either penetration or aspiration). Two patients (12.5%) showed aspiration both liquid and viscous nutrition. Three patients (18.75%) showed aspiration primarily in liquids and two of them had penetration with viscous nutrition. Three patients (18.75%) had penetration with no aspiration neither liquid nor viscous nutrition (PEN-ASP score was 3, 3, 5, respectively). CONCLUSION: There is no curative treatment for this devastating and fatal disorder and hearing impairment, balance and swallowing disorders can be seen especially late onset form of disease.

Endolaryngeal dilatation versus laryngotracheal reconstruction in the primary management of subglottic stenosis.

OBJECTIVES: The scope of the study is to compare endolaryngeal dilatations (ED) with laryngotracheal reconstruction with cartilage grafting (LTRCG) in terms of restenosis. METHODS: Pediatric subglottic stenosis patients treated in Hacettepe University, between 2002 and 2012 were retrospectively evaluated. Patients who had ED or LTRCG as primary management were included in the study. EDs were grouped into bronchoscopic dilatation (BD), laser incision and balloon dilatation (LBD) and cold knife incision and balloon dilatation (CKBD). The groups were evaluated in terms of restenosis and decannulation rates. RESULTS: There were 35 patients (9 females, 26 males; mean age 4.42). LTRCG was performed in 16 patients (9 anterior and 7 anterior and posterior grafts). EDs were performed in 19 patients with 6 CKBDs, 7 LBDs and 6 BDs. There were 3 grade II, 13 grade III cases in the LTRCG group while 4 grade I, 6 grade II, 8 grade 3 and 1 grade 4 in the ED group. Overall decannulation rate was 97% (34/35) in all patients. Restenosis was higher in the ED group (63.2%) than the LTRCG group (31.3%) with rates of CKBD 16.7% (1/6), LBD 71.4% (5/7) and BD 100% (6/6). Restenosis rates were found to be increasing with higher grades (grade I-25%, grade II-66%, grade III-85%). CONCLUSION: ED may need more repetitive interventions than LTRCG due to restenosis. Less restenosis might be observed when balloon is used for dilatation and cold knife for mucosal incisions.

Hearing stimulation of the pediatric patient with congenital aural atresia: surgical and audiological evaluation of 38 patients.

The aim of this work is to stress the importance of and discuss the timing and options for the treatment of congenital aural atresia (CAA), including non-surgical alternative treatment modalities and amplification, and to report the audiological and surgical results of a series of patients. Thirty-eight children with CAA were evaluated with regard to hearing and anatomical anomalies accompanying CAA: the state of the ossicles and the facial nerve, postoperative complications and audiological results. The ages of the patients ranged between 4 and 18 years, with a mean of 10 years. All underwent surgical treatment; 32 had unilateral atresia, while 6 had bilateral atresia. The mean follow-up duration was 7 months. The facial canal was dehiscent in 36.8% of cases. In 70.2% cases, the malleus and incus were present as an ossicular mass, fixed and attached to the atretic bone. The stapes was normal in 97.3% of the patients; in 2.7% the suprastructure was deformed. The success rate, defined as an air-bone gap of 20 dB or less, was 63.1% in this series of patients. If atresia is bilateral, very early hearing stimulation to prevent the maldevelopment of children's speech and cognitive skills is of the utmost importance. In unilateral cases, surgery may be postponed until early adulthood, when the patient is able to make his/her own decision and cooperate in the treatment and postoperative aspects.

Congenital laryngeal cyst: a rare cause of polyhydramnios.

Congenital laryngeal cyst is a rare cause of airway obstruction that may require urgent diagnosis and treatment. We report a case of a neonate having history of polyhydramnios and severe respiratory distress at birth. A laryngeal cyst detected during intubation. The outcome of laryngoscopic treatment of the cyst was favorable.

Laryngomalacia: patient outcomes following aryepiglottoplasty at a tertiary care center.

Laryngomalacia is the most common cause of stridor in neonates and infants. Most cases are mild and resolve spontaneously without treatment. Only severe cases with intolerable symptoms require surgical intervention; in such cases, supraglottoplasty is considered the treatment of choice. The aim of this study was to review and present the outcomes in patients with laryngomalacia who underwent aryepiglottoplasty-a type of supraglottoplasty. The medical records of children diagnosed as laryngomalacia who were followed up at Hacettepe University Hospital, Department of Otorhinolaryngology, between 2007 and 2012 were reviewed retrospectively. The study included 16 children who required surgical intervention. The mean age of the 16 children included in the study was 133 days (range: 7 days-48 months). Among the patients, 9 (56%) were male and 7 (44%) were female. In all, 7 patients (44%) had a comorbid condition. Laryngomalacia diagnoses were as follows: type I: n = 2, 13%; type II: n = 13, 81%; type III: n= 1, 6%. Stridor completely resolved in 10 of the children who underwent aryepiglottoplasty. Three patients required tracheotomy and 3 required revision supraglottoplasty; these six cases were considered as failed surgical treatment. The aryepiglottoplasty success rate was 63%. None of the patients had any intraoperative or postoperative complications. Despite the primarily benign nature of laryngomalacia, comorbid conditions can exacerbate symptoms and negatively affect the prognosis. Aryepiglottoplasty can be performed with high success and low complication rates in properly selected patients.

Pediatric tracheotomy: comparison of indications and complications between children and adults.

The aim of this study was to demonstrate the differences between adult and pediatric tracheotomies in terms of indications, early and late complications and decannulation time. A total of 136 (53 children, 83 adult) patients who underwent tracheotomy between 2006 and 2011 were studied. Prolonged intubation was the most common indication in children (84.9%), whereas in the adult group, upper airway obstruction (45.8%) was the main indication. Early and late complication rates in children were 22.6% and 5.7%, respectively. Complication rates (early 19.3%, late 4.8%) in adults did not differ statistically from those in children. Similar decannulation success was observed in children (34.6%) and adults (40.2%). Mean decannulation times after tracheotomy were 317 and 69 days in children and adults, respectively, and the difference was statistically significant (p = 0.040). Pediatric and adult tracheotomies differ in terms of indication and decannulation time, but complications are similar.

Nasal congenital fibrolipomatous hamartoma in a premature infant.

Hamartomas are tumor-like lesions composed of tissue elements normally found at the site where they are located, but which grow in a disorganized manner. They generally occur at birth or soon after, although presentations during adult life have been reported. Hamartomas of the head and neck are very rare. The exact mechanisms behind the development of hamartomas remain unknown; however, their benign nature renders complete surgical excision sufficient for their management. Here, we describe a case of a premature infant with a hamartomatous polypoid lesion containing both fibrous and adipose components, originating from the dorsum of the nose. The differential diagnosis and management of hamartomas of the head and neck are also discussed. Although several cases series on precalcaneal fibrolipomatous hamartomas have been encountered in the literature, to the best of our knowledge, this is the first report of a nasally located congenital fibrolipomatous hamartoma.