[Secondary surgeries in craniosynostosis and faciocraniosynostosis]. / Chirurgie secondaire des craniosténoses et faciocraniosténoses.

Secondary surgeries for single craniosynostosis surgeries are mainly esthetic refinements rather than functional indications. However, cranioplasties for bone defects correction or insufficient corrections may be undertaken. Management of syndromic craniosynostoses usually requires multiple surgical interventions, the sequence of which might vary per the genetic mutation. It is commonplace to start with posterior vault expansion before age 6 months, then treat cerebellar tonsillar herniation by the age of twelve months, and delay fronto-facial monobloc advancement until at least 18-24 months of age. Ventricular shunting is preferably avoided or delayed. Failure to respect these guidelines can significantly complicate the subsequent management. Primary fronto-orbital advancement or early facial osteotomy type Le Fort3, may compromise the subsequent fronto-facial monobloc advancement. However, this salvage secondary monobloc may be undertaken in some instances despite previous anterior osteotomies with a higher morbidity.

[Craniofacial strategy for syndromic craniosynostosis]. / Stratégie craniofaciale pour les faciocraniosténoses.

The complexity of treatment of faciocraniosynostosis justifies the treatment in a reference center for rare diseases. The growth disturbances in the skull and face being variable according to the type of mutation in the FGFr (Crouzon, Pfeiffer, Apert), the strategy is adapted to the phenotype according to the following principles: posterior expansion with or without distraction around 6 months to limit the descent of the cerebellum tonsils and to prevent the turricephalic development; fronto-facial monobloc advancement with internal distraction around the age of 18 months in case of severe exorbitism or breathing impairment. The dissociated strategy (fronto-orbital advancement first, followed by facial osteotomy of Le Fort 3 type). The growing evolution dictates the sequence of subsequent surgeries according to the monitoring of intracranial pressure by fundus examination and of the respiration by polysomnography. Le Fort 3 and transversal maxillary distraction may be repeated if necessary. Orthognathic surgery is almost always compulsory after the age of 14, before the aesthetic refinements which can be undertaken ultimately (rhinoplasty, genioplasty, canthopexies, fat grafting…).

Retropharyngeal infections in children. Treatment strategies and outcomes.

OBJECTIVE: To optimize the treatment of retropharyngeal infections in children. METHODS: Retrospective chart review of 101 consecutive pediatric cases of retropharyngeal infections referred to our center from January 2006 to July 2009. RESULTS: Two-thirds of patients were males. Their mean age was 52 months (range: 6-163). Upper airway obstruction was observed in three patients. In another child, the infection evolved towards a diffuse cervical cellulitis. Medical treatment was initially planned in 44% of patients. Failures requiring surgical drainage occurred in 18% of them. In 56% of cases, surgical treatment was immediately instigated. It failed in 16% of patients, requiring a second surgical drainage. There was no difference in the duration of fever and of hospital stay between patients initially treated medically or surgically. Both medical and surgical treatment failures were associated with longer durations of fever (p=0.002, and p<0.0001, respectively) and of hospital stay (p=0.0006, and p=0.0005, respectively). Some characteristics of CT-scan anomalies were correlated with treatment failure. A hypodense core surrounded by rim enhancement, with a largest long axis ≥ 20 mm, was more frequent in case of medical failure (p=0.02). Surgical failure was associated with the same feature, but with a largest long axis ≥ 30 mm (p=0.05). CONCLUSIONS: The present study suggests that severe complications are rare in pediatric retropharyngeal adenitis, and that CT-scan is a useful tool to choose between medical and surgical treatment.

Early prognostic factors for intellectual outcome in CHARGE syndrome.

CHARGE syndrome (coloboma, heart disease, atresia of the choanae, retarded growth and mental development, genital anomalies, and ear malformations and hearing loss) is a heterogeneous condition for which early prediction of intellectual outcome is important but difficult. The psychomotor milestones and intellectual outcome of a consecutive series of children with CHARGE syndrome who were observed by the same team from the neonatal period to the time of study were analyzed retrospectively. Twenty-one children (11 males and 10 females, aged from 5 to 12 years, mean 8 years 7 months, SD 2 years 5 months) were included. The influence of 19 early identifiable parameters that could be considered as deleterious for intellectual outcome was recorded. Generally, the main psychomotor milestones (0 to 4 years) were severely delayed, although intellectual outcome (at primary-school age) was satisfactory for half the children in this series. We show that extensive bilateral coloboma resulting in low vision, microcephaly, and brain malformation were the only three parameters that were predictive of poor intellectual outcome. Conversely, severe neonatal medical conditions, such as tracheotomy, conditions requiring long stays in hospital, or cardiac surgery were not predictive of poor intellectual outcome. Severe hearing loss was not found to be negatively correlated with intellectual outcome once coloboma had been taken into account.

Risk factors for thyroglossal duct remnants after Sistrunk procedure in a pediatric population.

To evaluate recurrence after surgery for thyroglossal duct cyst (TDC) we performed a retrospective chart review. Seventy four patients between 0.5 and 8.5 years of age presenting with a midline neck cyst underwent a Sistrunk procedure for a preoperative diagnosis of TDC. Fifty-seven had histologically confirmed TDC (mean age of the population: 4+/-1.5 years, mean follow-up: 6 years and 8 months). Recurrence occurred in 15% of the cases of histologically confirmed TDC. Four individual risk factors have been identified: number of infection before surgery [more than 2 episodes (P<0.05)]; preliminary surgical procedure (P<0.05); age [less than 2 years (P<0.05)] and multicystic lesion on histopathology (P<0.01). The two first factors being correlated, the risk of relapse might be lowered by a wide excision performed before any infection in children over 2 years.

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.

Conservative management of Gradenigo syndrome in a child.

Gradenigo syndrome consists of the association of otitis media, facial pain in regions innervated by the first and second division of trigeminal nerve and abducens nerve paralysis. It is caused by osteitis of the petrous apex (PA) and is a very rare complication of otitis media. Its treatment usually consists in mastoidectomy and antibiotics. We report a case of a 6-year-old child, which was managed medically with a positive outcome.

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.

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.

[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.

[Growth retardation and obstructive sleep apnea in infants]. / Retard de croissance et apnées obstructives du sommeil chez le nourrisson.

BACKGROUND: Obstructive sleep apnea can induce growth retardation, with cardiac and/or neurologic manifestations. Tonsillectomy and adenoidectomy may improve failure to thrive. CASE REPORTS: Case n. 1: A 11 1/2-month-old boy was admitted because of feeding problems plus chronic nasopharyngeal secretions (eventually purulent) since the first months of life. He showed a low rate of weight gain since the age of 7 months and had been treated treated for gastroesophageal reflux for a few weeks. On admission, his weight was 6,220 g and his height was 70.5 cm. The tonsils were enlarged and the uvula was long. He displayed tachycardia (150/min). Polygraphic recordings during sleep showed numerous episodes of obstructive apnea. Arterial oxygen saturation (SaO2) during the night was low, frequently below 80%. Tonsillectomy and adenoidectomy immediately improved the quality of sleep. Nocturnal SaO2 and cardiac rythm improved one week later; there was a catch-up weight one month after surgery. Case n. 2: A 7-month-old boy, was admitted because chronic manifestations similar to those of case n. 1. His weight was 5,900 g and his height was 67.5 cm. He also had enlarged tonsils. He suffered from episodes of snoring and obstructive sleep apnea followed by waking and sweating. PaO2 was 70 mmHg and PaCO2 was 48 mmHg. Nocturnal SaO2 was frequently below 60%. Tonsillectomy and adenoidectomy resulted in a net improvement in sleep and weight, despite persistent episodes of nocturnal hypoxemia. CONCLUSIONS: Chronic hypertrophic tonsils and adenoids can interfere with weight gain. Growth retardation may dramatically improve after surgery, even if the tonsils and adenoids do not completely obstruct the nasopharynx.