First description of frequent occurrence of supernumerary lumbar ribs and transitional vertebrae in children with Williams-Beuren syndrome.

BACKGROUND: Williams-Beuren syndrome is a rare multisystemic genetic disorder with an incidence of 1 in 7,500 live births. Because these children often have scoliosis, they undergo routine radiographic examinations of the spine. During these examinations we have found many children with supernumerary lumbar ribs arising from the first lumbar vertebra, often associated with lumbosacral transitional vertebrae. OBJECTIVE: To describe the incidence of supernumerary ribs and transitional vertebrae in children with Williams-Beuren syndrome and compare it to the incidence in a general population. Our hypothesis is that these findings are common, but they have not been described in the literature concerning Williams-Beuren syndrome. MATERIALS AND METHODS: From January 2015 to October 2021, 308 patients (138 male) with Williams-Beuren syndrome were treated at our hospital. Of these, 106 (47 male) underwent diagnostic imaging, mostly for suspected scoliosis. Panoramic radiographs of the whole spine were performed in 88 patients and radiographs of regions of the spine, chest radiographs, CT, MRI or fluoroscopy in 18 patients. We retrospectively analysed the images concerning the number of ribs and vertebrae. We correlated the frequency of lumbar ribs and transitional vertebrae in comparison to a general population as described in the literature. RESULTS: After exclusions for insufficient imaging, we analysed imaging in 91 patients. Of these, 67 patients (73.6%) had 13 ribs, of which 85% were located on both sides, 9% on the right and 6% on the left side. Of the 67 patients with supernumerary lumbar ribs, 38 (57%) also had transitional vertebrae. CONCLUSION: Supernumerary lumbar ribs arising from the first lumbar vertebra, often accompanied by lumbosacral transitional vertebrae, are common in children with Williams-Beuren syndrome.

Stridor caused by duplication cyst in a female infant and temporary vocal cord paralysis. A case report.

INTRODUCTION AND IMPORTANCE: Congenital hypopharynx duplication cysts are a medical rarity; nevertheless, they offer an important differential diagnosis in neonatal dyspnea or feeding problems. CASE REPORT: Herein, we describe a case of delayed diagnosis but successful surgical removal of a large congenital hypopharynx cyst in a 4-month-old infant presenting with stridor. CLINICAL DISCUSSION: Early and proper diagnosis and surgical handling of hypopharynx cyst can help to achieve the best prognosis and outcome. CONCLUSION: We present the successful management of a newborn with a pharyngeal duplication cyst. In our case, the temporary postoperative laryngeal nerve palsy resolved within four weeks. Overstretching of recurrent laryngeal nerve might have caused this complication.

Differences of Medical Care for Acute Severe Viral Bronchiolitis in Two Urban Areas in Europe.

BACKGROUND: Acute viral bronchiolitis is a frequent disease in infancy. There is little knowledge on medical care of severely affected infants in different European countries. PATIENTS: Infants (n=146) with bronchiolitis requiring respiratory support in winter season 2015/2016 treated in either one of two regions in Central Europe: South of greater Paris region in France (group 1) and Ruhr area in Germany (group 2). METHODS: Retrospective chart review. Primary outcome parameter was duration of respiratory support. RESULTS: Infants in group 1 (n=96) were younger, suffered less frequently from neurologic disorders and had lower respiratory rates than in group 2 (n=50). CO2 levels and dyspnea score were similar. Ninety percent of infants in group 1 were treated by nasal Continuous Airway Pressure CPAP, while 80% of infants in group 2 were treated by High Flow Nasal Cannula HFNC. Duration of respiratory support was significantly shorter in group 1. Infants in group 2 received more frequently infusion therapy, more antibiotics and more inhalation therapy. DISCUSSION: Our results show better outcome for infants with viral bronchiolitis treated in France. Striking differences were the practice of respiratory support (nasal CPAP vs. HFNC) and the prescription of supportive treatments. CONCLUSION: Treatment approaches in severe acute viral bronchiolitis differ widely between a French and a German urban region.

Fatal outcome despite full lympho-hematopoietic reconstitution after allogeneic stem cell transplantation in atypical ataxia telangiectasia.

Allogeneic hematopoietic stem cell transplantation (HSCT) has not been a therapeutic option in ataxia telangiectasia (AT) due to overwhelming toxicity of conditioning in the context of the global DNA repair deficiency. Furthermore HSCT is unable to cure neurological involvement of AT. We report on a Turkish child with a Hyper IgM phenotype disorder, in which clinical aspects of AT were absent and thus, AT not diagnosed. He was transplanted with a reduced toxicity, but full intensity conditioning regimen comprising treosulfan, fludarabine and ATG. The peritransplant period was uneventful and the patient was discharged at day +57. 8 months after HSCT, the patient developed hepatopathy with monoclonal gammopathy of unclear significance and died due to hepatic failure and encephalopathy at the age of 32 months. Post mortem high throughput sequencing revealed a mutation in the ATM gene.

Respiratory syncytial virus infection in 406 hospitalized premature infants: results from a prospective German multicentre database.

Premature birth, chronic lung disease of prematurity (CLD), congenital heart disease and immunodeficiency predispose to a higher morbidity and mortality in respiratory syncytial virus (RSV) infection. This study describes the preterms hospitalised with RSV infection from the prospective German DSM RSV Paed database. The DMS RSV Paed database was designed for the prospective multicentre documentation and analysis of clinically relevant aspects of the management of inpatients with RSV infection. This study covers six consecutive RSV seasons (1999-2005); the surveillance took place in 14 paediatric hospitals in Germany. Of the 1,568 prospectively documented RSV infections, 26% (n=406) were observed in preterms [vs. 1,162 children born at term (74%)] and 3% (n=50) had CLD, of which 49 had received treatment in the last 6 months ('CLDplus'). A significantly higher proportion in the preterm group had congenital heart disease, nosocomial infection, and neuromuscular impairment. There were significantly more children older than 24 months in the preterm group. The attributable mortality was 0.2% (n=2) in children born at term vs. 1.2% (n=5) in the preterm group (p=0.015) [preterm plus CLD 8.0% (n=4 of 50); McIntosh grade 1, 8.6% (n=3 of 35) and McIntosh Grade 4, 15% (n=3 of 20)]. Eight patients were categorized as 'palivizumab failures'. In the multivariate analysis, premature birth, CLD(plus), and nosocomial infection were significantly and independently associated with the combined outcome 'complicated course of disease'. In conclusion, this is the first prospective multicentre study from Germany that confirms the increased risk for severe RSV disease in preterms, in particular in those with CLD treated in the last 6 months before the onset of the infection. From the perspective of our results, the statements of the German Society of Paediatric Infectious Diseases considering the use of passive immunisation (2003) seem reasonable.