Congenital mid-line cervical cleft: case report and review of literature.

Congenital Mid-line Cervical Cleft (CMCC) is a rare but interesting congenital anomaly of the neck that is frequently misdiagnosed. Much controversy exist regarding its aetiology. Embryologically, the occurrence of CMCC is thought to be due to many hypotheses that include impaired mid-line fusion of the first or second branchial arches, exteriorisation of a thyroglossal duct remnant, and or increased pressure in the cervical area from the pericardial roof in the developing embryo. Histologically, the cleft usually consists of a stratified keratinized squamous epithelium with hyperkeratosis, dermal fibrosis and little or no skin appendages. Associated clinical features could include thyroglossal duct cysts, cleft lip/mandible/sternum, cervical contractures, mandibular spurs, microgenia and or bronchogenic cysts. In this article we present a patient with CMCC. An extensive review of the literature is also included.

MultiDimensional Voice Program analysis in children with vocal cord nodules.

Computer-assisted voice analysis has recently been introduced as a noninvasive approach to the management of paediatric dysphonia. The aim of this study was to determine which parameters of voice analysis distinguish vocal cord nodules from normal patterns. Following diagnosis by flexible nasolaryngoscopy, 12 male children with vocal cord nodules, aged 7 to 12, underwent voice analysis by MultiDimensional Voice Program (MDVP; Kay Elemetrics, Lincoln Park, NJ, USA). These subjects were divided into two age groups (7-9 years, n = 5; 10-12 years, n = 7) and compared to age-matched controls. Results suggest that across all age groups, subjects with vocal cord nodules had statistically significant (p < .01) elevations in absolute jitter, jitter percent, relative average perturbation, pitch period perturbation quotient, smoothed amplitude perturbation quotient, and fundamental frequency variation. Further studies are required to assess the role of MDVP in the diagnosis of other voice pathologies and the monitoring of voice therapy.

Head and neck manifestations of Kawasaki disease.

Kawasaki disease, also known as acute infantile febrile mucocutaneous lymph node syndrome, is a self-limited vasculitic disease of infants and young children. The cause of the disease remains uncertain. Within the constellation of signs and symptoms, there are numerous otolaryngologic manifestations. The following represents the largest series of patients in the otolaryngology literature, involving 155 confirmed cases of Kawasaki disease as treated at our institution during the last 10 years. The demographic data, clinical pictures of the typical and atypical forms of the illness, as well as the laboratory values, therapy and complications are discussed.

Surgical treatment of cholesteatoma in children.

We retrospectively reviewed patients surgically treated for cholesteatoma to determine the impact of surgical procedures on preoperative hearing status and whether there was preservation, improvement, or deterioration. We reviewed 173 patients treated over a 15-year period. One hundred eighteen (68%) patients had acquired cholesteatoma and 55 (32%) patients had congenital cholesteatoma. One hundred (58%) patients had extensive disease on presentation that required canal wall-down mastoidectomy. Patients with attic cholesteatoma underwent canal wall-up mastoidectomy, and those with cholesteatoma localized to the middle-ear space were adequately treated with tympanotomy. Hearing was preserved in 101 cases (59%), improved in 30 (17%), became worse in 23 (13%), and could not be accurately assessed in 19 (11%) due to lack of documentation. A second surgical procedure for recidivistic (recurrent or residual) disease was required in 53 (30%). Ipsilateral facial paralysis was noted in 3 (1.7%) patients immediately after recovery from anaesthesia, and 1 (0.5%) patient had a sensorineural hearing loss. This study confirmed the aggressiveness of cholesteatoma in children and demonstrated the need for careful preoperative evaluation, meticulous surgical technique, and prudent postoperative follow-up.

Langerhans' cell histiocytosis: paediatric head and neck study.

OBJECTIVE: This study presents the experience of the Montreal Children's Hospital (MCH) with Langerhans' cell histiocytosis (LCH) and reviews the new advances in diagnosis and therapy of this disorder. DESIGN: Retrospective study of 20 patients seen between July 1986 and July 1997 diagnosed with LCH. METHODS: All of the 20 charts were examined for variables including age, sex, area involved, treatment modalities, and complications. RESULT: Sixty-five percent of patients presented with localized lesions and 35% with multisystem involvement. The most common involved area was the skull, and 57% of skull lesions involved frontal bone. The temporal bone was involved in 25% of cases. The most common ear symptom was otorrhea. CONCLUSION: Langerhans' cell histiocytosis is a rare paediatric disorder. Head and neck involvement occurs frequently in both localized and multisystem disease. The prognosis is highly dependent on the age and number of systems involved.

Choanal and ileal atresia: a new syndrome or association?

Choanal atresia is a relatively common congenital malformation which is often associated with other anomalies. On the other hand, ileal atresia is very rare, mostly nonsyndromic and occasionally associated with other anomalies. The association of choanal and ileal atresia is unknown. Here we report the first instance of bilateral choanal atresia and ileal atresia in a full term male infant and describe the subsequent surgical treatment of both conditions. The association is unique and may represent a syndrome.

Juvenile nasopharyngeal angiofibroma.

This is a retrospective study of 17 patients with juvenile nasopharyngeal angiofibroma treated from 1983 to 1996. Patients with Stage I or II disease according to the Fisch classification system were treated surgically by a transpalatal approach. One patient underwent a Le Fort I osteotomy and down-fracture approach for access. Three patients underwent combined transpalatal and lateral rhinotomy for access, whereas one underwent a transcervical double mandibular osteotomy to facilitate the exposure. A patient with Stage IV disease underwent a combined subcranial frontonasal osteotomy plus a Le Fort I osteotomy for access to a massive angiofibroma. Initial surgical management prevented recurrence in 79% of patients. Two patients with intracranial extension were treated with primary irradiation therapy; their tumours became asymptomatic. Preoperative angiography and embolization were used to treat all surgical candidates. The use of newer craniofacial or subcranial techniques and infratemporal fossa approaches with osteotomies can provide access to large angiofibromas even when there is skull base or intracranial involvement. Surgical exposure may also be enhanced by the use of the Le Fort I osteotomy and down-fracture approaches.

Lemierre syndrome in an immunocompromised patient.

Lemierre syndrome or septic thrombophlebitis of the internal jugular vein is a potentially life-threatening complication. This condition may result from oropharyngeal infection, central venous catheterization, and intravenous drug abuse. Immunocompromised patients and individuals with systemic disease are at higher risk of developing the syndrome. We present here a case of septic jugular vein thrombosis in an adolescent with systemic lupus erythematosus. The etiological factors, pathogenesis, and diagnostic and therapeutic measures are discussed.

Acute airway obstruction in Hunter syndrome.

Hunter syndrome is one of the mucopolysaccharidoses, characterized by a deficiency of the lysosomal enzyme iduronate sulfatase. Among its physical manifestations, there are numerous head and neck signs, including characteristic facial features, macroglossia and short neck. The accumulation of glycosaminoglycans in the soft tissues of the head and neck can be associated with acute airway obstruction. We report a 7 year old boy with Hunter syndrome who developed acute airway compromise requiring an emergency tracheotomy. A review of the literature of airway management in patients with this disease is also presented.

Peritonsillar abscess or cellulitis? A clinical comparative paediatric study.

OBJECTIVE: Peritonsillar sepsis (PTS) can be divided into abscess and cellulitis. It is the most common deep neck infection in the paediatric age group. In this article we discuss the clinical issues related to peritonsillar sepsis in children. METHOD: This study involves 185 cases of peritonsillar that were treated at the Montreal Children's Hospital in the last 10 years. The symptoms, signs, laboratory and radiological data as well as the medical and surgical therapies are included. RESULTS: Seventy-five cases were peritonsillar cellulitis (PTC) and the rest were abscesses. The age at presentation varied between 2.5 months and 18 years. The majority of the cases diagnosed as peritonsillar abscess (PTA) occurred from age 12 to 18 years. Trismus was the only complaint that was statistically associated with PTA. Uvular deviation combined with trismus was also important in differentiating PTA from PTC. Our data revealed a lower percentage of anaerobic bacteria and the majority of cultures grew Streptococcus pyogenes group A. CONCLUSIONS: Clinical picture is important in differentiating PTA from PTC. Recurrence of peritonsillar sepsis was higher in children with a history of recurrent tonsillitis. Needle aspiration of PTA resulted in a higher incidence of recurrence compared to incision and drainage. A management algorithm is suggested for the child presenting with peritonsillar sepsis.

Keutel syndrome: further characterization and review.

Keutel syndrome is a rare autosomal recessive disorder characterized by diffuse cartilage calcification, characteristic physiognomy, brachytelephalangism, peripheral pulmonary stenosis, hearing loss, and borderline to mild mental retardation. We report on an Arab boy with Keutel syndrome and cerebral calcifications identified at 15 years while investigating a seizure disorder. The parents are phenotypically normal first cousins. Thirteen cases in 9 families (including this case) have been published. Six families were consanguineous, two had multiple affected sibs (males and females) and 4 families originated from the Middle East.

Sleep-disordered breathing in children with myelomeningocele.

BACKGROUND: Although patients with myelomeningocele and the Chiari II malformation are known to have sleep apnea and respiratory control deficits, the prevalence, types, severities, and associations of sleep-disordered breathing (SDB) have not been adequately defined. METHODS: A cross-sectional study of our myelomeningocele clinic population was undertaken to correlate polysomnographic results with historical data and findings from magnetic resonance imaging of the Chiari malformation, pulmonary function results, and nocturnal pulse oximetry. RESULTS: A questionnaire survey of symptoms was available for 107 of 109 children (98% of the clinic population), and 83 patients agreed to undergo overnight polysomnography. Breathing during sleep was classified as normal in 31 cases (37%), mildly abnormal in 35 cases (42%), and moderately/severely abnormal in 17 cases (20%). Among the 17 patients with moderately/severely abnormal SDB, 12 patients had predominantly central apneas and 5 had predominantly obstructive apnea. Patients with a thoracic or thoracolumbar myelomeningocele, those who had previously had a posterior fossa decompression operation, those with more severe brain-stem malformations, and those with pulmonary function abnormalities were more likely to have moderately/severely abnormal SDB, relative risks (95% confidence intervals) 9.2 (2.9 to 29.3), 3.5 (1.3 to 8.9), 3.0 (0.9 to 10.5), and 11.6 (1.6 to 81.3), respectively. Failure of obstructive SDB to resolve after adenotonsillectomy in four patients suggested abnormal control of pharyngeal airway patency during sleep. Nocturnal pulse oximetry accurately predicted moderately/severely abnormal SDB with a sensitivity of 100% and a specificity of 67%. CONCLUSIONS: The pathogenesis of SDB in patients with myelomeningocele involves the functional level of the spinal lesions, congenital and acquired brainstem abnormalities, pulmonary function abnormalities, disorders of upper airway maintenance, and sleep state. Polysomnography and nocturnal pulse oximetry should be performed in high-risk patients to detect and classify SDB.

Otolaryngologic manifestations of neurofibromatosis in children.

OBJECTIVE: Neurofibromatosis (NF) is a genetic disease with a wide variety of clinical manifestations. Eight patients with otolaryngologic manifestations of NF are presented. This represents 4.9% of all NF patients currently registered at the NF clinic at the Montreal Children's Hospital. METHODS: Clinical manifestations are divided into cosmetic and functional categorizations. RESULTS: Five patients presented with cosmetic deformities, the most common being an enlarging facial mass. Three patients presented with functional impairments, the most common being hearing loss and airway obstruction. Radiologic findings include the presence of plexiform neurofibromas and airway obstruction. Management was individualized to improve cosmesis and/or function. In the literature, the incidence of head and neck manifestations in patients with NF varies between 14% and 37%. Cosmetic lesions include pigmentary changes (café-au-lait spots), prominent neurofibromas, and osseous lesions. Functional deficits include hearing loss, speech and voice abnormalities, airway obstruction, dysphagia, facial paresis, lip incompetence, and impaired mastication. Diagnosis of NF-1 (classic von Recklinghausen's disease) and NF-2 (bilateral acoustic schwannomas) can be made using specific criteria. Management of patients with NF is individualized depending on the cosmetic deformity, functional impairment, and/or malignant potential of tumours. NF is progressive and has no cure. Prognosis depends on individual clinical manifestations, surgical resectability, and the potential for sarcomatous degeneration. CONCLUSION: This study provides a unique classification of the otolaryngologic findings in NF, giving the otolaryngologist an operable framework for diagnosis, treatment and prognosis.