The CHARGE association: the role of tracheotomy.

OBJECTIVES: To evaluate the need for a tracheotomy and its timing during the evolution of an association of malformations, including coloboma, heart defects, choanal atresia, developmental and growth retardation, genitourinary malformation, and ear anomalies (CHARGE association). DESIGN: Retrospective study from January 1988 through December 1997. SETTING: Four academic tertiary care centers. PATIENTS AND METHODS: Forty-five patients with CHARGE association having at least 3 cardinal malformations (growth retardation excluded) and review of the malformations and respiratory manifestations encountered. All the patients underwent endoscopic exploration on several occasions. We reviewed the nature and the timing of therapeutic interventions performed on the airway. RESULTS: Two patients died (one patient of septicemia, the other of unknown causes). Abnormalities of blood gas levels and/or sleep were found in 30 patients (67%), were responsible for cardiorespiratory arrest in 9 (20%), and required admission to the intensive care unit in 21 (47%). Pharyngolaryngeal anomalies leading to dyspnea (discoordinate pharyngolaryngomalacia, glossoptosis, retrognathia, laryngeal paralysis, cleft, stenosis, and difficult intubation) were found in 26 patients (58%). Tracheobronchial anomalies (esophagotracheal fistula, esophageal atresia, and tracheomalacia) were present in 18 patients (40%). Resection of the aryepiglottic folds was attempted 3 times, but without success. Tracheotomy was necessary in 13 patients (29%) at a median age of 2.4 months (mean duration, 25 months). Among these infants, the posterior nasal choanae were patent in 10 patients at the time of tracheotomy. Gastroesophageal reflux was encountered in 36 patients (80%). Prolonged enteral feeding was necessary in 21 patients (47%), with gastrostomy in 16 (of whom 9 needed a tracheotomy). These feeding difficulties and airway problems were highly correlated. CONCLUSIONS: We encountered multiple, complicated airway abnormalities. Resection of aryepiglottic folds was inadequate. Often, a tracheotomy could not be avoided in these patients, regardless of choanal patency. Tracheotomy needs to be performed early to avoid hypoxic events. In some selected patients, ventilation using bilevel positive airway pressure may be an alternative.

Treatment of infantile subglottic hemangioma. A report of 49 cases.

Forty-nine laryngeal subglottic hemangiomas were observed in infants over a 9-year period. The diagnosis was always confirmed by direct laryngoscopy. The outcome of 42 of these hemangiomas was studied. A total of 26 infants recovered completely after medical treatment and 16 were intubated; only 4 underwent a tracheostomy. Short-term steroid therapy was sufficient in 7 infants, but long-term administration of corticosteroids was necessary in 14 cases. In 10 of the 16 intubated cases it was possible to withdraw corticosteroids permanently. Of the 6 remaining cases, 32P contact radiation therapy was tried in 2 cases of which one was successful, CO2 laser in 2 cases without success, tracheostomy alone in one case and one child died 2 months after extubation, without dyspnea. This series leads us to recommend corticosteroids as a first therapeutic step and short-term nasotracheal intubation if unsuccessful.

Fistulae of the fourth endobranchial pouch.

Eight cases of laterocervical cystic tumor occurring during childhood are described. Three cases presented in the neonatal period as an obstructive tumor. Five cases presented in bigger children as recurrent abcess of the neck. Two of those were initially considered as acute suppurative thyroiditis. Laryngoscopy revealed, in all cases, a fistula originating from the apex of the pyriform sinus. Considering the pharyngeal connections, the anatomical route and the pathological reports, we believe that these cysts are derived from the 4th endobranchial pouch. A review of the literature of the past 10 years reveals only 14 reported cases of laterocervical tumors of similar origin.

Respiratory obstruction as a sign of brainstem dysfunction in infants with Chiari malformations.

Laryngeal respiratory obstruction associated with Chiari malformations was first described in 1932. We studied this type of obstruction in six children with one or several disorders pointing to brainstem dysfunction (failure to thrive, velopharyngeal incompetence, gastroesophageal reflux, or vagal hypertonia). The nature of the laryngeal obstruction was highly variable (vocal cord paralysis, paradoxical vocal cord motion, laryngomalacia) as were the frequency and severity of associated disorders. Chiari malformations should be routinely sought in a child with laryngeal respiratory obstruction occurring at birth or later, whatever the endoscopic diagnosis, especially when signs of brainstem dysfunction are present. The best tool for diagnosing the Chiari malformation is T1- and T2-weighted MRI. Signs of brainstem dysfunction must be treated symptomatically, before treating Chiari malformations by decompressive surgery. This latter approach led to full functional recovery in all five children who underwent the procedure. Palliative surgical treatment should be reserved for patients in whom this procedure is unsuccessful.

Acoustic reflex as a predictor of middle ear effusion.

The comparative efficacy of tympanometry and the acoustic reflex (threshold and supraliminal amplitude) in predicting the presence of fluid in the middle ear was studied just before myringotomy in 50 children (99 ears) prior to adenoidectomy. Impedance audiometry was carried out under a general anesthetic (ketamine and nitrous oxide) in 60%, and without anesthesia in 40% of the cases. The comparative efficacy of this test was assessed using objective criteria which were independent of the cut-off point between normal and abnormal groups. The prediction efficacy of acoustic reflex threshold and amplitude (Youden's index = 0.58) was superior to that of tympanometry peak amplitude and pressure (Youden's indexes = 0.29 and 0.36). The efficacy of the gradient was 0.41. Modifications due to anesthesia were not statistically significant for the whole group, but temporary abolition of the acoustic reflex at the start of anesthesia is probably related to the high percentage of false positives noted when the acoustic reflex is used alone in patients given a general anesthetic.

[Isolated neonatal dysfunction of brainstem]. / Le dysfonctionnement néonatal isolé du tronc cérébral.

BACKGROUND: Brainstem dysfunction in newborns (BDN) is an association of symptoms originally described in the Pierre-Robin sequence. BDN is thought to result from a deficiency of the sucking and swallowing embryonic organization. POPULATION AND METHODS: Between 1983 to 1993, 48 infants without cleft palate were referred for suck and swallow abnormalities. They were considered to have BDN because they presented three of the four following criteria: neonatal suck and swallow difficulties; pharyngeo-oesophageal uncoordination with abnormal oesophageal manometria; upper airway obstruction, either clinically obvious or detected on laryngoscopy; vagal overactivity, either clinically obvious or detected during Holter recording with ocular compression. RESULTS: Among these 48 infants, 30 were affected with polymalformative syndrome often involving embryonic fields derived from the neural crest. Three infants had a conotruncal cardiac malformation and 15 had no associated malformation. These latter 15 infants presented with facial dysmorphic features including reciding chin, glossoptosis. U-shape palate and a vertical tongue. From birth or the first weeks of life, they had suck and swallow difficulties with various functional symptoms: slow baby bottle intake, cough or velo-pharyngeal incoordination, upper airway obstruction or apparent life threatening events (ALTE). Diagnosis was confirmed by both clinical observation and three simple investigations namely: laryngoscopy, oesophageal manometria and Holter recording with ocular compression. Ten children were nasogastric tube or gastrostomy fed, one had a tracheostomy and one had a nightly O2 supplementation. While the overall functional prognosis was good whatever the initial symptoms, 50% of these children had mental retardation, mostly moderate. CONCLUSION: Examination of short-term follow-up in these children has stressed that BDN requires a specific management of both nutritional and respiratory troubles. Finally, BDN should lead to the active search of an underlying polymalformative syndrome and to an accurate neurologic evaluation.

[The emergency treatment of a recent burn of the oesophagus (author's transl)]. / Traitement d'urgence d'une brûlure récente de l'oesophage.

The emergency treatment of an oesophageal burn consist of: -- avoidance of a certain number of measures which may be considered to be dangerous or useless: gastric lavage, emetic agents, neutralising agents or oesophageal antacids; -- the treatment of shock and of oesophageal and gastric complications, in cases of massive ingestion in which the prognosis may be improved only by active, thorough and prolonged intensive therapy; -- attempting to prevent the development of subsequent stenosis following massive ingestions. The majority of authors are in agreement concerning the usefulness of early assessment by oesophagoscopy. There exists a certain amount of discord concerning the use of a calibrating oesophageal tube and the usefulness of corticosteroid therapy.

[Laryngeal cysts in the newborn (9 cases) (author's transl)]. / Les kystes du larynx chez le nouveau-né. (A propos de 9 observations).

Nine cases of laryngeal cysts in the newborn were seen over a period of 8 years. After reviewing data from the literature, the authors emphasise treatment. Simple puncture aspiration was invariably followed by a recurrence. Marsupialisation or endoscopic resection was associated with 5 successful results. An external operative approach was necessary in 4 cases because of multiple recurrences. No tracheotomy was necessary.

[How to edit a scientific article and where to publish it?]. / Comment rédiger un article scientifique et où le publier?

The editorial aspect of scientific writing cannot be dissociated from the scientific message it carries. Precision, clearness and conciseness are qualities which express the level of rigour reached in the scientific work presented. By gaining knowledge of the universally accepted rules for medical writing, and abiding by them, authors can expect optimal diffusion of the scientific content and facilitate reader comprehension. This paper outlines the precise rules common to all scientific articles and gives details on the elements on which a biomedical journal bases its decision on whether or not to publish the results of the author's work.

[Acute epiglottitis in adults. A series of 41 cases]. / Epiglottite aiguë de l'adulte. Une série de 41 cas.

Acute epiglottis is not strictly a childhood disease. We report our experience with acute epiglottis in adults with a retrospective series of 41 patients seen from 1986 to 1994. The main complaint was painful dysphagia. The diagnosis was confirmed a examination of the larynx. Therapeutic management in a hospital setting is required due to the risk of ventilatory obstruction (therapy to be adapted to the patient's ventilatory status).

[Neonatal laryngeal paralysis. Course and treatment. 56 cases (author's transl)]. / Paralysies laryngées néo-natales: évolution et traitement. A propos de 56 observations.

56 laryngeal paralyses were seen in newborn infants between 1970 and 1976 (25 bilateral, 31 unilateral). The aetiology was obstetric trauma in 11 cases, nuclear agenesis in 7 cases, a severe neurological disorder (spina bifida, hydrocephaly, microcephaly, lesions of the central nervous system) in 13 cases, and congenital heart disease in 3 cases. In 10 cases, the paralysis was present in isolation. The initial state was not recorded in 11 cases. The course varied according to the aetiology: 5 deaths, 4 due to the severity of neurological problems. Regression, which invariably occured before the end of the 6th month, was seen in all the cases with an obstetric aetiology and in 50% of those in which the paralysis was present in isolation. There was persistence in the majority of neurological, nuclear or central causes. However, subsequent tolerance of persistent forms was good in all those patients followed-up on a regular basis, apart from 5 who underwent surgery. Treatment consisted of intubation for forms poorly tolerated initially, for the first few weeks. Tracheotomy did not prove necessary in any case. 5 patients underwent surgery: arytenoidectomy or arytenoidopexy via an extralaryngeal approach.

[Choanal imperforation in children. Value of the transpalatine approach. Apropos of 30 cases]. / Imperforation choanale de l'enfant. Intérêt de la voie transpalatine. A propos de 30 observations.

Two routes of approach, the transnasal and the transpalatine, are used with equal frequency to treat choanal imperforations in infants, the transpalatine approach being traditionally reserved for children over 1 year of age. A retrospective study of 30 children treated between 1974 and 1981 demonstrated that results were insufficient when the transnasal approach was used (80 p. cent failures) when compared with those obtained with the transpalatine approach (90 p. cent successful). A suggested explanation for the superiority of the transpalatine approach is advanced, and this approach route proposed for initial surgery during the neonatal period based on the results of recent experimental studies showing its safety with regard to maxillary growth.

[Intubation or tracheotomy in severe subglottic laryngitis]. / Intubation ou trachéotomie dans les laryngites sous-glottiques sévères.

A retrospective study to assess safety of nasotracheal intubation for subglottic laryngitis in children was conducted in 44 cases treated in the Intensive Care Unit of Hôpital Bretonneau, France between 1971 and 1981. Intubation had been performed in 40 children, and immediate tracheotomy in the other 4. The course of the affection was favorable in 37 (92,5%) of intubated children, secondary tracheotomy being necessary in only 3 cases. A mean duration of 84 hours of intubation was sufficient in 24 children, a total mean duration of 180 hours being required in the 13 other cases. The catheter employed in the 3 tracheotomized children with morbilous laryngitis was too large, and laryngeal stenosis developed in 2 of them. These findings demonstrate that when a catheter of correct size (1/2 size below that indicated by the weight and age of the child) is employed, nasotracheal intubation for severe subglottic laryngitis is a safe procedure.

[Ethmoidal mucocele in a nursing infant. Apropos of 1 case]. / Mucocèle ethmoïdale du nourrisson. A propos d'un cas.

Characteristic features of mucoceles of the paranasal sinuses in infants are their extreme rarity, their localization exclusively in the ethmoidal sinuses, and the specific nature of their clinical expression. Partial explanation of these specific features is provided form knowledge of the embryology of the facial sinuses and the various pathogenic theories developed concerning these mucocele lesions. Two out of four cases observed were associated with viscidosis, and a sweat test must be routinely performed in all cases.

[Clinical, audiological and radiological correlations in internal ear abnormalities]. / Corrélations cliniques, audiologiques et radiologiques dans les malformations de l'oreille interne.

Based on findings in 20 children, with deafness associated with radiologically visible internal ear malformations, possible correlations between audiometric and clinical findings were studied which could suggest the presence of this type of malformation, leading to tomographic examinations to confirm the diagnosis.

[Compressive brachio-cephalic arterial trunk and gastro-oesophageal reflux following surgery for oesophageal atresia (author's transl)]. / Troni artériel brachio-céphalique compressif et reflux gastro-oesophagien dans les suites opératoires d'atrésie de l'oesophage.

6 cases of cardiorespiratory complications occurring after surgical treatment of oesophageal atresia are reported by virtue of the association of tracheal compression by the brachio-cephalic arterial trunk and of gastro-oesophageal reflux. In all cases, medical (2 cases) or surgical (4 cases) treatment of gastro-oesophageal reflux led to the disappearance of all respiratory symptoms and signs. Emphasis is placed upon the need for a routine and thorough search, radiological and endoscopic, of such associated oesophageal pathology, before proceeding to surgery on the compressive brachio-cephalic arterial trunk.

[Respiratory obstacle and gastro-oesophageal reflux. Pathogenic link (author's transl)]. / Obstacle expiratoire et reflux gastro-oesophagien. Lien pathogénique.

The finding of the frequent association in the infant of endothoracic tracheal compression and of GOR leads to discussion of their pathogenic link. In cases of endothoracic compression, manometric recording demonstrates the presence of an inversion of intragastric pressures with expiratory hyperpressure and a decrease in anti-reflux gradient. These data represent an argument in favour of medical anti-reflux treatment following discovery during endoscopic investigations for chronic or recurrent bronchopneumonia of the association of tracheal compression and gastrooesophageal reflux. Manometry should make it possible, where medical treatment proves unsatisfactory, to differentiate those cases where anti-reflux surgery is justified and those requiring a decompression procedure.

[Functional reinnervation of the larynx. Experimental study (author's transl)]. / Réinnervation fonctionnelle du larynx. Etude expérimentale.

This study of reinnervation of the larynx results from the research for a functional method of treatment for laryngeal paralysis of peripheral origin. The physiological reality of reinnervation of a denervated muscle by a nerve other than that anatomically destined for it, or "neurotisation", is now an established fact. This experimental study in 12 dogs consisted of neurotisation of a posterior crico-thyroid muscle, denervated by section of the recurrent laryngeal nerve, by implantation of a graft of sub-hyoid muscle with a nerve pedicle. Only one positive result at six months was seen. 8 failures could be explained by the absence of ventilatory difficulty necessary for the sub-hyoid muscles to be brought into action, and the other 3 failures two months after the operation by muscular fibrosis of the graft before neurotisation could occur. Physiology and the experience of other teams justify the continuation of this study.

[Two cases of laryngotracheal stenosis in children suffering from punctate epiphysis disease (author's transl)]. / Sténose laryngo-trachéale chez des enfants atteints de maladie des épiphyses ponctuées. A propos de deux observations.

The authors report two cases of congenital laryngotracheal stenosis in children with punctate epiphysis disease. This rare condition manifests itself clinically by dwarfism of the extremities, saddle-shaped deformity of the nose, cataract and visceral lesions. The specific common feature is the presence of radiological calcifications in bones with chondral ossification. Laryngeal or tracheal localisations are rare. They may be associated with laryngotracheal stenosis. On the basis of these two cases and of eight other found in the recent literature, the authors attempt to define the relationship of such stenosis with the existence of laryngotracheal calcifications and to define their prognostic significance in the course.

[False appearances of aortic arch in laryngomalacia (author's transl)]. / Faux aspects d'arc aortique au cours de la laryngomalacie.

The authors report six cases of congenital laryngeal stridor in which appearances of oesophageal compression had led to a diagnosis of abnormalities of the aortic arches. Two children underwent surgery, thoracotomy failing to reveal any abnormality. The other four were investigated by endoscopy which made it possible to eliminate the diagnosis of tracheal compression. All of these children were suffering from laryngomalacia. These cases indicate the need for complete routine studies, in particular endoscopic, in all cases of stridor, as well as for careful definition of the radiological criteria of abnormality of the aortic arches. The pathogenesis of these false appearances of oesophageal compression in laryngomalacia is discussed.