Yves Manach

Temporal bone anomaly proposed as a major criteria for diagnosis of CHARGE syndrome

The acronym CHARGE defines a non-random clustering of congenital malformations of unknown origin. Classical diagnostic criteria include: 1) one major feature namely coloboma/microphthalmia or choanal atresia, and 2) four of the six features designated in the CHARGE acronym. Interestingly, all CHARGE patients hitherto reported had partial or complete semicircular canal hypoplasia on temporal bone CT-scan. We report on semicircular canal agenesis/hypoplasia in three patients with three to four features of the CHARGE syndrome and neither coloboma nor choanal atresia and we propose to include temporal bone malformations as a major criteria for diagnosis of CHARGE syndrome.

Brainstem dysfunction: a possible neuroembryological pathogenesis of isolated Pierre Robin sequence

Abstract. Pierre Robin sequence (posterior U-shape cleft palate, glossoptosis, retrognathia) (PRS) is a frequent and heterogeneous neonatal condition of obscure origin. We show here that orodigestive and cardiorespiratory functional disorders are very frequent in PRS and that these functional disorders, as well as anatomical and embryological data, argue for the involvement of brainstem dysfunction in the pathogenesis of some cases of isolated PRS. A total of 66 infants consecutively admitted for isolated PRS were followed-up with observations and investigations focused on their orodigestive and cardiorespiratory disorders. Neonatal clinical examination and neonatal anatomical aspects of the three orofacial features of the sequence were evaluated. Feeding difficulties and respiratory disorders were recorded and infants were classified according to three grades of severity. The relation between functional severity grade and neonatal orofacial features was evaluated, as well as the relation between functional severity grade and specific criteria characterising oesophageal and laryngeal motility and cardiac orthoparasympathetic imbalance. In the first weeks of life, sucking and swallowing disorders (100%), excessive regurgitation (94%), upper airways obstruction (50%), and cardiac vagal overactivity (59%) were noted. Correlation of anatomical features with functional severity grades was poor except for extreme forms of glossoptosis and retrognathia. Specific anomalies of oesophageal motility, pharyngolaryngeal tone and parasympathetic cardiac regulation were described. These anomalies were more frequent in children with the two higher grades of functional severity. Conclusion: infants with Pierre Robin sequence have early and severe anomalies of orodigestive and cardiorespiratory function which do not appear to be related solely to anatomical features and which require proper medical management. We suggest a prenatal and neonatal brainstem dysfunction as a neuroembryological hypothesis to explain the onset of some cases of Pierre Robin sequence.

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

Abstract 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 childrens 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.

Acute mastoiditis in children: a retrospective study of 188 patients.

OBJECTIVE The aim of this study is to define the clinical and bacteriological characteristics of acute mastoiditis (AM) in children in order to optimize diagnostic work-up and treatment. METHODS In this retrospective study, 188 children between 3 months and 15 years of age (15±24 months; median±SD) were referred to our pediatric ENT emergency center for AM during a 7-year period (December 2001-January 2008). RESULTS Fifty seven percent were male and 43% were female. Clinical follow-up duration was 3.9±0.7 months (mean±SEM). The incidence of AM remained stable during the whole study period. Microbiological samples (n=236) were negative in 33% of cases. The most frequently isolated germs were Streptococcus pneumoniae (51%), Streptococcus pyogenes (11.5%), Anaerobes (6.5%), and coagulase-negative Staphylococcus (6.5%). Paracentesis, puncture of retro auricular abscess under local anesthesia, and peroperative samples all contributed to isolate the involved germ(s). All the patients were hospitalized and received intravenous antibiotics, and 36.2% (n=68) underwent surgery. Several surgical procedures were necessary in 4 cases (2.1%). AM recurrences requiring a second hospitalization were observed in 8 patients (4.3%). The only observed complication was lateral sinus thrombosis (n=6; 3.2%). Surgical failures, requiring more than one surgical procedure, were more frequent in case of: (i) presence of Anaerobes (p≤0.001) or Gram-negative bacteria (p≤0.05) in microbiological samples; (ii) surgical drainage without mastoidectomy (p≤0.001). Recurrences were more frequent in AM due to Streptococcus pneumoniae. CONCLUSIONS Based on our findings and on literature data, a protocol was established in order to standardize the management of pediatric AM in our center. The mains points are: no systematic surgery; if surgery is indicated, it must encompass a mastoidectomy; broad-spectrum intravenous antibiotic treatment covering the most commonly involved germs (3rd generation cephalosporin) and secondarily adapted to the results of microbiological samples. If the infection is not controlled after 48 h of intravenous antibiotherapy, a mastoidectomy had to be performed.

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.

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.

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.

Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome

Background Auriculocondylar syndrome (ACS) is a rare craniofacial disorder consisting of micrognathia, mandibular condyle hypoplasia and a specific malformation of the ear at the junction between the lobe and helix. Missense heterozygous mutations in the phospholipase C, β 4 (PLCB4) and guanine nucleotide binding protein (G protein), α inhibiting activity polypeptide 3 (GNAI3) genes have recently been identified in ACS patients by exome sequencing. These genes are predicted to function within the G protein-coupled endothelin receptor pathway during craniofacial development. Results We report eight additional cases ascribed to PLCB4 or GNAI3 gene lesions, comprising six heterozygous PLCB4 missense mutations, one heterozygous GNAI3 missense mutation and one homozygous PLCB4 intragenic deletion. Certain residues represent mutational hotspots; of the total of 11 ACS PLCB4 missense mutations now described, five disrupt Arg621 and two disrupt Asp360. The narrow distribution of mutations within protein space suggests that the mutations may result in dominantly interfering proteins, rather than haploinsufficiency. The consanguineous parents of the patient with a homozygous PLCB4 deletion each harboured the heterozygous deletion, but did not present the ACS phenotype, further suggesting that ACS is not caused by PLCB4 haploinsufficiency. In addition to ACS, the patient harbouring a homozygous deletion presented with central apnoea, a phenotype that has not been previously reported in ACS patients. Conclusions These findings indicate that ACS is not only genetically heterogeneous but also an autosomal dominant or recessive condition according to the nature of the PLCB4 gene lesion.

Use of the subgaleal fascia to construct the auditory canal in microtia associated with aural atresia: A preliminary report

In this paper we introduce the use of a subgaleal flap to construct the auditory canal in cases of microtia associated with aural atresia. The anatomy, the vascularisation, and the nomenclature of the different planes that constitute the temporal region are wellknown. The subgaleal fascia, also referred to as the loose areolar fascia has been until now the less surgically exploited of these planes. Nevertheless, it has a structure and a vascularisation that enables it to be dissected and used surgically. The subgaleal flap used to line the neoauditory canal drilled into the bone provides a vascular bed that greatly improves the quality of the skin graft and supports the tympanoplasty. The procedure is done while the ear is being raised, which constitutes the second stage of the two-stage ear reconstruction. This new approach has been used on 22 ears. A preliminary analysis of the results shows that construction of the auditory canal has been improved.

LE DYSFONCTIONNEMENT NEONATAL ISOLE DU TRONC CEREBRAL

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 polate 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-oesophageat uncoordination with abnormal oesophageal mutometria; 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 polate and a vertical tongue. From birth or the first weeks of life, they had suck and swallow difficulties with various functional symptoms: slow babybottle 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, vesoplungeal monometria 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, most 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 evalution.