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.

Laryngeal stenosis following carbon dioxide laser in subglottic hemangioma. Report of three cases.

Recent reports recommend carbon dioxide laser as the safest and the most effective treatment for subglottic hemangioma in infants. Though one report mentions the development of a small amount of subglottic scarring in an 8-month-old girl after resection of a subglottic hemangioma, there is insufficient emphasis in the literature with respect to stenosis as a complication of CO2 laser therapy. The authors present three cases of severe laryngotracheal stenosis developing in infants treated with the CO2 laser for subglottic hemangioma. The presentation of these three cases should be a warning to the otolaryngologist that the use of the CO2 laser is not without significant risk of scar tissue formation.

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.

Outpatient tonsillectomy and adenoidectomy: complications and recommendations.

An example of cost-effective alternatives in medical care is the increasing use of out-patient surgery for those children requiring tonsillectomy, or tonsillectomy with adenoidectomy rather than an in-patient procedure. Two studies were carried out to answer questions about the complications, in addition to post-operative hemorrhage, and also the questions about the parental views and concerns relating to providing at-home care for their children following surgery. A triad, including recent history of upper airway infection, knife dissection technique, and increased intra-operative blood loss of 100 ml or more should be used to help identify the risk of post-operative hemorrhage.

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.

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.

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.

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.

Kaposi's sarcoma of the intra-parotid lymph nodes in AIDS.

Kaposi's sarcoma is the most frequent malignancy associated with AIDS. The occurrence of Kaposi's sarcoma in the parotid region is extremely rare. In this publication we present a case of a 47-year-old male patient who developed a swelling of the left parotid tail that proved to be Kaposi's sarcoma of an intra parotid lymph node. A discussion of the etiological factors, clinical staging and management of KS, as well as the differential diagnosis of the parotid enlargement in AIDS patients, is presented.

Ingestion of lye and other corrosive agents--a study of 86 infant and child cases.

Eighty-six cases of caustic ingestion seen over a 10 year period at the Montreal Children's Hospital are presented in an analytical retrospective fashion. All the patients were hospitalized. Ingestion was more common in males than females. Sixty-two patients were less than four years of age. Thirty-five of the 86 cases had esophageal burns. Esophagoscopy was performed on all cases. There was no perforation following endoscopy. Steroids and antibiotics were used on all the cases. Six patients developed stricture formation requiring bougienage.

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.

Inverted papillomas of the nose and paranasal sinuses in children.

Inverted papillomas are uncommon lesions in the nose and paranasal sinuses, especially in the pediatric age group. We report the occurrence of one case in a 13-year-old Chinese female. Review of the literature and conclusions about management of these lesions in children are provided.

[Deafness in juvenile relapsing polychondritis. A case report]. / Surdite dans la polychondrite récidivante infantile: à propos d'un cas.

Relapsing polychondritis is an autoimmune disease that affects all body cartilages. The disease may also involve the audio-vestibular system, usually bilaterally. Most of the reported cases were adults 20 years old or more. This is a case report of a 12-year-old girl with unilateral sensorineural hearing loss, and a review of the literature.

Ambulatory tonsillectomy and adenoidectomy: complications and associated factors.

This is a case-control study of over 500 cases of tonsillectomy and adenotonsillectomy performed at the Montreal Children's Hospital over a 10-month period. Demographics of patient population and selection criteria for out-patient procedure are presented. The hot (cautery) and cold (knife) dissection techniques are compared. Complications including intraoperative and postoperative hemorrhage are presented. The recognition of aerodigestive tract complications necessitating re-admission or emergency room management cannot be over emphasized. Recent history of upper airway infection (UAI) was noted to be associated with postoperative aerodigestive tract complications. The triad of UAI, knife dissection technique and increased intraoperative bleeding was found to be associated clinically and statistically with primary postoperative hemorrhage.

Cogan's syndrome: a review of otologic management and 10-year follow-up of a pediatric case.

Although first characterized over 45 years ago Cogan's syndrome still remains a rare disease, with a high incidence of poor outcome. Experience with a case of Cogan's syndrome over a 10-year period is presented. The fluctuating clinical evolution and laboratory findings over this period are depicted, starting from presentation at age 10. The response to treatment, as revealed by audiograms, is traced. The literature is reviewed with regard to treatments that have been proposed. In those cases where a sustained follow-up is available, the success of the therapy on the vestibuloauditory system is evaluated. Although some patients have a positive response to steroids, the prognosis for hearing remains poor. The ability of steroids to change the prognosis for hearing loss is not yet established, but warrants further clinical trial.

Aneurysmal bone cyst of the mandible.

The aneurysmal bone cyst (ABC) is a benign, solitary lesion of bone which is most commonly found in the long bones and vertebral column. Its occurrence in the mandible is uncommon. Because of its infrequent appearance, the ABC may be mistaken for neoplastic lesions. In the past, management has consisted of curettage, cryotherapy and local resection. In this publication we present a case of ABC of the mandible. We include a review of the literature, a discussion of the etiology, pathogenesis and management of this interesting lesion.

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.

Adenoid cystic carcinoma of the larynx.

Adenoid cystic carcinoma, or cylindromas, constitute a large and distinct group of neoplasms with characteristic microscopic features recognizable in tissues as varied as the nasal passages, tongue, and bronchi. Cylindromas of the larynx are rare and only 60 cases have been reported in a review of the literature in 1977. In this report, a case of adenoid cystic carcinoma originating in the subglottic area of the larynx is discussed, with emphasis on the clinical and pathologic characteristics. In the past, the histogenesis of cylindroma has been the subject of considerable controversy, but recent light microscopic and ultrastructural studies strongly implicate the seromucinous glands of the respiratory and upper digestive tracts as the tissues from which these neoplasms derive. In general, cylindromas of the upper alimentary and respiratory passages are best treated by wide surgical excision. Some clinicians have combined surgery with postoperative radiation therapy in an attempt to prevent or delay recurrence and metastases. Chemotherapeutic agents have also been employed in the postoperative management of adenoid cystic carcinoma although the longterm results of this treatment modality remain to be determined.