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.

Vestibular anomalies in CHARGE syndrome: investigations on and consequences for postural development.

UNLABELLED: Recently, vestibular anomalies have been described as a frequent feature in children with coloboma-heart-atresia-retarded-genital-ear (CHARGE) syndrome. They are likely to play an important role in the psychomotor retardation affecting these children. In order to test this hypothesis, we prospectively performed complete vestibular investigations in a series of 17 CHARGE syndrome patients including inner ear CT scan and functional vestibular evaluation of both canal and otolith functions. These results were correlated with the postural anomalies observed during the children's development and showed that vestibular dysfunction is a constant feature in CHARGE syndrome and has very good sensitivity for confirming the diagnosis. Anomalies of semicircular canals were frequently found (94%), easily detectable on CT scan and associated with no response on canal function evaluation. They were considered as partly responsible for the retardation of postural stages. Vestibular functional tests were consistently abnormal but allowed detection of residual otolith function in most patients (94%). All children of this series had an atypical pattern of postural behaviour that we consider to be related to their vestibular anomalies. Residual otolith function seems to have a positive influence for postural development. CONCLUSION: Vestibular investigations are valuable for diagnosis, developmental assessment, and adaptation of specific rehabilitation programmes in CHARGE syndrome patients.

[Inner ear in C.H.A.R.G.E. association]. / L'oreille interne dans l'association C.H.A.R.G.E.

Cochleovestibular dysfunction is one of the major features of C.H.A. R.G.E. association. The inner ear anomalies were studied in a population of 17 children with CHARGE. Temporal bone anomalies were defined with CT scan, hearing loss was evaluated with audiologic procedures appropriate for age, and functional canal and otolith vestibular impairment evaluated with respectively vertical and off vertical axis rotation (OVAR) tests. Temporal bone anomalies appear specific of C.H.A.R.G.E. association. They are characterized by an aplasia of the posterior labyrinth (with an absence of semicircular canals) and a variable degree of anomalies of the anterior labyrinth with sometimes normal cochlea. Hearing loss is variable, often worsened by delayed neurological maturity and frequent association of middle ear effusion. Thus, multiple audiologic evaluations are required at regular intervals. The treatment of middle ear effusion, the association of hearing aid and speech therapy management permit language acquisition in spite of the other multiple sensory handicaps. Vestibular functional evaluation shows a constant canal areflexia but a residual vestibular otolith function (sometimes normal). The deficit of the vestibular function is certainly involved in the delay of posturo-motor development as well as visual deficit and neurological impairment. This can permit an adaption of the physical therapy program for each child to make use of the available sensorial information.

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.

[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.

[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).

[Teratoma of the middle ear. Apropos of 4 new cases]. / Le tératome de l'oreille moyenne. A propos de 4 nouvelles observations.

Teratomas are benign hereditary tumors which are exceptionally located in the middle ear. We observed 4 cases and underline the difficulty in preoperative differential diagnosis with hereditary cholesteatoma using CT scan and emphasize the potential of MRI. Generally, diagnosis can only be confirmed by the peroperative macroscopic aspect of the tumor and after pathology examination (multi-tissue teratoma). The difficulty in excising the tumor is directly related to the degree of the subsequent deformation of the middle ear. Ossiculoplasty was required in 2 of our 4 cases. Finally, rare recurrence requires follow-up in these young patients.

[Minor aplasia of the ear: anatomical findings and results of functional surgery]. / Aplasie mineure de l'oreille: constatations anatomiques et résultats de la chirurgie fonctionnelle.

We report a retrospective study of 57 cases of minor aplasia of the ear. Each case was analyzed according to the clinical presentation, audiometric results and preoperative radiography. Intra-operative classification of the malformation was obtained in 56 of the 57 cases. The post-operative anatomic and functional results were analyzed. Stapedectomy in type II malformations (stapedo-vestibular ankylosis) gave the best results but this procedure also carries the highest risk for the inner ear. Globally, functional results were good or average in 48% of the patients. These results may appear unsatisfactory but must be appreciated in light of the fact that half of the patients benefited from the operation (particularly in eliminating further use of an external hearing aid). Nevertheless, the long-term stability of these audition results is unknown.

[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.

[Hemorrhage of upper digestive and respiratory tracts in children. A clinical, biological and therapeutic approach]. / Les hémorragies des voies aéro-digestives supérieures chez l'enfant. Approche clinique, biologique et thérapeutique.

Haemorrhages in the upper aero-digestive tract, whether spontaneous or provoked by surgery, lead to the discovery of abnormal coagulation. A retrospective series of 43 children hospitalized for haemorrhage of the upper aero-digestive tract enabled us to evaluate the most frequent causes. Willebrand's disease, haemophilia and Glanzmann's thromboasthenia, primary haemostasis disease, made up 27.9% of the cases; acquired impaired haemostasis by thrombopathies secondary to aspirin intake accounted for 25.6%; finally the haemostasis tests were normal in 46.5% of the children. Based on clinical features and biological data, we proposed an adapted diagnostic approach and discussed therapy in light of the current literature. This study confirmed the importance of an adapted routine battery of laboratory tests and the persistent search for impaired haemostasis in children hospitalized for haemorrhage of the upper aero-digestive tract.

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.

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.

[Myringoplasty in children]. / Myringoplastie chez l'enfant.

An anatomical success rate of 81% was obtained in 150 children 2 to 15 years of age operated upon by myringoplasty in the hospital Bretonneau, Paris between 1977 and 1984. Results were unrelated to age the season or the condition of the mucosa. Adverse factors were a previous history of a transtympanic aerator, a velar cleft or bilateral perforations. Mean functional gain after 1 year was 14 dB. It was not related to age or the technique used.

[Cardiac failure complicating laryngomalacia in a newborn infant]. / Défaillance cardiaque compliquant une laryngomalacie chez un nouveau-né.

A case of cardiac failure with pulmonary hypertension in a neonate with laryngomalacia is described. The interest of clinical and echocardiographical follow up and transcutaneous blood gas measurements to monitor the course of any upper airway obstruction is emphasized.