Pediatric deep neck infections: Clinical description and analysis of therapeutic management.

OBJECTIVES: The aim of our study was to describe clinical presentations, bacteriological results, and therapeutic management in a pediatric population presenting with acute pharyngeal suppuration. A further aim was to identify clinical, bacteriological, and radiological predictors of success associated with exclusive medical treatment. METHOD: A retrospective study was carried out including patients under 18 years of age hospitalized between January 1, 2015 and December 31, 2017 in our center for acute pharyngeal suppuration. We identified three groups of patients: group A, treated with exclusive intravenous antibiotics; group B, surgically treated after 48 h of appropriate antibiotic therapy, due to persistent fever and/or clinical worsening and/or persistence of a collection on follow-up imaging; group C, surgically treated as first-line therapy in association with intravenous antibiotics. A total of 83 patients were included: 36 in group A, 12 in group B, and 35 in group C. These three groups were compared for several variables: age of the patients, polynuclear neutrophil counts, diameter of the collections (the largest diameter found on imaging), duration of antibiotic therapy, delay before return to apyrexia, and hospitalization duration. RESULTS: A neck mass and torticollis were present, respectively, in 48.8 and 47.6% of cases. No breathing difficulties were reported. Streptococcus pyogenes was the most frequently identified microorganism. The average diameter of the collections from patients treated surgically as first-line therapy (group C) was significantly larger than that of the patients treated with antibiotics (group A) (27.89 mm vs. 18.73 mm, respectively, p = 0.0006). All the patients who required surgery despite 48 h of appropriate antibiotic therapy (group B) had collections with diameters greater than or equal to 15 mm. There was no significant difference between the groups concerning hospitalization duration. CONCLUSION: Exclusive medical treatment is associated with a high cure rate, mainly for collections with small diameter. We recommend special attention to patients treated with first-line exclusive intravenous antibiotic therapy and with a collection diameter greater than or equal to 15 mm.

Severe Thoracic and Spinal Bone Abnormalities in neurofibromatosis type 1.

Neurofibromatosis type 1 (NF1) is an autosomal dominant, multi-system, neurocutaneous disorder that predisposes to the development of benign and malignant tumors. Classical skeletal abnormalities encompass sphenoid wing dysplasia, congenital bowing of the long bones and vertebral osteopathy associated with non-dystrophic or dystrophic scoliosis found in about 10% of NF1 patients. We report a 17-year-old boy affected by NF1 with extreme severe spinal and thoracic malformations affecting bone and lung tissues, including hypoplasia of the right lung, unilateral costal agenesis and severe dystrophic scoliosis characterized by association of hemivertebra, fusion of adjacent vertebral bodies and defective pedicles. At birth, he presented an acute respiratory distress requiring invasive ventilator support. The diagnosis of NF1 was confirmed at age 5 by the identification of a de novo heterozygous mutation c.4537C > T, p.Arg1513* in NF1. Trio-based Whole Exome Sequencing (WES) was performed to exclude coexistence of a second hit but no clearly other pathogenic variant has been identified. Until now, only one similar NF1 patient suffering from the same association of severe scoliosis and chest deformity leading to respiratory insufficiency was described. The severe prenatal NF1-related scoliosis could explain the lung abnormal development by absence of mechanical constraints. Severe Thoracic and Spinal Bone Abnormalities may be part of the NF1 bone phenotype and should be taken into account to allow adequate genetic counseling.

Epidemiological survey in a day care center following toddler sudden death due to human metapneumovirus infection.

We report the sudden death of a 33-month-old child owing to acute respiratory distress syndrome due to human metapneumovirus (hMPV) infection. Of 30 children attending the same day care centre, 26% and 59% had hMPV and multiple infections, respectively; three of six children with pneumonia had a diagnosis of hMPV. hMPV infection is common in childhood viral co-infections but it can cause sudden death.

Short-course antibiotic treatment of bone and joint infections in children: a retrospective study at Montpellier University Hospital from 2009 to 2013.

BACKGROUND: Acute haematogenous bone and joint infections (AHBJI) represent a diagnostic and therapeutic emergency in children, with significant potential sequelae in the case of delayed treatment. Although historically the recommendations for treatment have been based on surgery and prolonged antibiotic therapy, recent studies have demonstrated that short-course antibiotic therapy is also effective. OBJECTIVES: We evaluated a short-term antibiotic protocol for both osteomyelitis and septic arthritis in a 6 year retrospective study at the University Hospital of Montpellier. METHODS: This protocol was based on an initial intravenous treatment with a re-evaluation after 48 h and an early switch to oral therapy in the case of a favourable clinical course for a minimum total duration of 15 days. Antibiotics were selected based on local microbiological epidemiology and systematically adapted to bacteriological results. RESULTS: One hundred and seventy-six cases of AHBJI were included, comprising 56 patients with osteomyelitis, 95 with septic arthritis and 25 who had both of these. The aetiological agent was identified in 42% of the cases, with the main pathogens being Staphylococcus aureus (39%) and Kingella kingae (27%). The mean intravenous treatment duration was 4 days, while the total treatment duration was 15 days. There were no treatment failures, mild sequelae occurred in 1% of the cases and the secondary surgical revision rate was 7%. CONCLUSIONS: The results of this study are comparable to those reported for evaluations of prolonged antibiotic therapy protocols, thus indicating that a common short-term antimicrobial therapy for the management of both osteomyelitis and septic arthritis (minimum of 15 days) is a viable option for treating AHBJI in children. Further prospective studies to confirm these findings are hence warranted.

Cerebrospinal fluid volume in neonates undergoing spinal anaesthesia: a descriptive magnetic resonance imaging study.

BACKGROUND: Spinal anaesthesia (SA) reduces the risk of postoperative apnoea after general anaesthesia in neonates. In 30% of patients, however, the duration of anaesthesia provided does not allow completion of surgery. When compared with term infants, formerly preterm neonates experience a shorter duration of anaesthesia after SA. A difference in the cerebrospinal fluid (CSF) volume between those two populations could explain this difference, but this has never been investigated. The study was designed to evaluate the relationship between the spinal CSF volume and patient characteristics in neonates. METHODS: Sixty-seven neonates, aged 30-60 weeks postconception, were included in this study. Their spinal CSF volumes were calculated using magnetic resonance imaging, and these volumes were plotted individually against sex, term at birth, birth weight, current gestational age, civil age, and weight. Correlations between CSF volume and these variables were investigated. RESULTS: Fifty-four neonates completed the study. The CSF volume was found to be closely and linearly correlated with weight and postconceptional age. The relationship between spinal CSF volume and weight can be described as follows: CSF volume (ml)=1.94 weight (kg)+0.13. The CSF volume was not correlated with sex, weight, or term at birth, nor with civil age. CONCLUSIONS: The amount of spinal CSF in neonates can be estimated as 2 ml kg(-1) in both term and formerly preterm neonates. A difference in the CSF volume between them does not provide an explanation for a shorter duration of SA in the latter. Our findings reinforce weight-adjusted dosage of SA in neonates.

Mosaicplasty for femoral osteochondritis dissecans.

The authors describe a surgical mosaicplasty technique, with an anterior surgical dislocation approach without trochanterotomy, for osteochondritis dissecans of the hip. A graft was taken from the lateral condyle of the knee. Two adolescents underwent this procedure with good results. No osteonecrosis was observed at the longest follow-up. Mosaicplasty is a useful treatment method for small osteochondritis dissecans (<2cm(2)).

[Absent or hypoplastic thymus: A marker for 22q11.2 microdeletion syndrome in case of polyhydramnios]. / La dysgénésie thymique : marqueur de microdélétion 22q11.2 dans le bilan d'un hydramnios.

OBJECTIVES: In prenatal diagnosis of 22q11.2 microdeletion syndrome, without cardiac malformation or multiple associated congenital anomalies, we study the presence of polyhydramnios and its association with thymic dysgenesis. MATERIALS AND METHODS: This was a multicenter retrospective observational study. It was performed in two multidisciplinary centers for prenatal diagnosis in the south of France between January 1, 2010 and June 30, 2013. Inclusion criteria were prenatal diagnosis of 22q11.2 deletion syndrome. We excluded from the study any fetus with cardiac malformation or multiple associated congenital anomalies. RESULTS: During the inclusion period, eleven antenatal diagnoses of 22q11.2 microdeletion syndrome have been made. Six cases were excluded: 5 fetuses with cardiac malformation and one with multiple associated congenital anomalies. Therefore, five cases of isolated polyhydramnios were included. All 5 fetuses had a thymic dysgenesis: 3 had a thymic agenesis and 1 thymic hypoplasia diagnosed by sonography and 1 had a thymic agenesis diagnosed by retrospective reading of fetal MRI. CONCLUSION: When faced with a polyhydramnios, the presence of a thymic dysgenesis should be search for by ultrasound screening and would alert to the possibility of a 22q11.2 microdeletion syndrome. The confirmation of this is diagnosis by amniocentesis would enable improved antenatal support for parents and would enable early implementation of the multidisciplinary neonatal care that is required to avoid serious complications of this syndrome.

Diagnosis and surgical treatment of dysplasia epiphysealis hemimelica. A report of nine cases.

BACKGROUND: Dysplasia epiphysealis hemimelica (DEH) is a rare developmental bone disorder with hemimelic involvement of one or more epiphysis. We report on nine new cases and discuss the clinical manifestations, the value of MRI, and the results of complete and early surgical resection of these lesions. MATERIALS AND METHODS: In this retrospective study, nine patients with a diagnosis of DEH were evaluated. Age at presentation ranged from 1 year to 12 years. The main complaint at diagnosis was a swelling bony mass. Angular deformities were recorded in two patients. All patients were surgically treated and followed up clinically and by imaging. Eight patients underwent excision only. RESULTS: The average follow-up was 5.6 years (range, 2-10.5 years). All patients had a good outcome without related symptoms. No epiphysiodesis, angular deformity or recurrence was observed. One patient with femoral lesion involving the distal medial part of the epiphysis developed, four months after surgical excision, a calcification outside the area of total excision. This calcification did not increase in size at two years follow-up. Another patient with lateral involvement of the proximal tibial epiphysis presented a postoperative nervous complication. Spontaneous nervous recovery occurred three months after surgery. DISCUSSION: MRI was useful to find a potential plane of cleavage between the epiphysis and the pathological tissue. We recommend early removing ossifications when a cleavage plane is identified. Waiting a possible complication or increasing of size does not seem logical. Of course, the treatment will be not the same if no cleavage plane is found on MRI. LEVEL OF EVIDENCE: IV.

Discordant sex in monozygotic XXY/XX twins: a case report.

We report a case of discordant phenotypic sex in monozygotic twins mosaic 47,XXY/46,XX: monozygotic heterokaryotypic twins. The twins presented with cognitive and comprehension delay, behavioural and language disorders, all symptoms frequently reported in Klinefelter syndrome. Molecular zygosity analysis with several markers confirmed that the twins are in effect monozygotic (MZ). Array comparative genomic hybridization found no evidence for the implication of copy number variation in the phenotypes. Ultrasound scans of the reproductive organs revealed no abnormalities. Endocrine tests showed a low testosterone level in Twin 1 (male phenotype) and a low gonadotrophin level in Twin 2 (female phenotype) which, combined with the results from ultrasound examination, provided useful information for potentially predicting the future fertility potential of the twins. Blood karyotypes revealed the presence of a normal 46,XX cell line and an aneuploïd 47,XXY cell line in both patients. Examination of the chromosome constitutions of various tissues such as blood, buccal smear and urinary sediment not surprisingly showed different proportions for the 46,XX and 47,XXY cell lines, which most likely explains the discordant phenotypic sex and mild Klinefelter features. The most plausible underlying biological mechanism is a post-zygotic loss of the Y chromosome in an initially 47,XXY zygote. This would result in an embryo with both 46,XX and 47,XXY cells lines which could subsequently divide into two monozygotic embryos through a twinning process. The two cell lines would then be distributed differently between tissues which could result in phenotypic discordances in the twins. These observations emphasize the importance of regular paediatric evaluations to determine the optimal timing for fertility preservation measures and to detect new Klinefelter features which could appear throughout childhood in the two subjects.

[Infant rhabdoid tumors: a diagnostic emergency]. / Tumeurs rhabdoïdes du nourrisson : une urgence diagnostique.

Rhabdoid tumors are a heterogeneous family of aggressive tumors affecting young children. Their grouping within a single entity is recent, following the discovery of a bi-allelic inactivation of the hSNF5/INI1 tumor suppressor gene in tumoral cells. This bi-allelic inactivation of the hSNF5/INI1 gene found at the constitutional level in up to one-third of cases has led to the identification of a predisposal syndrome to rhabdoid tumors. Herein we report extrarenal rhabdoid tumors observed in three infants between 3 and 6 months of age, underlining the misleading feature of the clinical presentation and the aggressiveness of the disease. Finally, we also report the genetic patient care management strategy.

[Ultrasound of the neonatal hip: initial evaluation and follow-up]. / Échographie de la hanche néonatale : bilan initial et suivi thérapeutique.

Developmental dysplasia of the hip can arise in utero due to a dislocating posture, sometimes associated with predisposing genetic factors. The ideal time for diagnosis is during the neonatal period and adequate screening procedures must be in place. Indeed, the plasticity of hyaline cartilage and fibrocartilage combined with the growth potential at this age nearly always result in rapid complete resolution of the deformity. Ultrasound, when indicated, is the best imaging modality for diagnostic confirmation. It allows evaluation of the osteocartilaginous structures, joint space and soft tissues. Ultrasound provides the clinician with a reliable morphologic and dynamic evaluation tool improving the diagnostic accuracy and guiding orthopedic treatment. Our experience, dating back to 1985, is based on a population imaged between 2007 and 2009. From a total of 2480 neonates screened because of abnormal finding or risk factors, we identified 257 cases of dislocation (10%) in 191 neonates : 14 cases of nonreducible dislocation (10 neonates), 30 cases of reducible hip dislocation (24 neonates), 97 cases of dislocatable hip (73 neonates) and 116 cases of subluxable hip (84 neonates). Clinical and sonographic follow-up demonstrated therapeutic success in 237 cases (93%) and failure in 20 cases (one case of subluxable hip, two cases of dislocatable hip, three cases of dislocated hip, 14 cases of nonreducible hip dislocation). Imaging follow-up (6 to 24 months) showed asymmetry in the size of the proximal femoral epiphyses in 20 cases (with resolution in 10 cases), three cases of dysplasia and one case of post-reduction osteochondritis.

[Segmental occlusion of the internal carotid artery with collateral reinjection downstream from the carotid sinus]. / Occlusion segmentaire de l'artère carotide interne avec une réinjection collatérale postbulbaire.

The preoperative evaluation before coronary bypass led to the discovery of complete atheromatous obstruction of the internal carotid artery sinus in a 79-year-old man free of any neurological symptom. Downstream from the carotid sinus, the patency of the internal carotid artery was ensured by a collateral branch fed by the ipsilateral external carotid artery. This exceptional anatomic variation can be explained by a persistent embryonic artery. The recognition of this atypical feature is clinically relevant because surgery may be possible in some cases, while it is not technically feasible in patients with total obstruction.