Congenital Central Hypoventilation Syndrome (CCHS) is a rare condition characterized by an alveolar hypoventilation due to a deficient autonomic central control of ventilation and a global autonomic ...dysfunction. Paired-like homeobox 2B (PHOX2B) mutations are found in most of the patients with CCHS. In recent years, the condition has evolved from a life-threatening neonatal onset disorder to include broader and milder clinical presentations, affecting children, adults and families. Genes other than PHOX2B have been found responsible for CCHS in rare cases and there are as yet other unknown genes that may account for the disease. At present, management relies on lifelong ventilatory support and close follow up of dysautonomic progression. BODY: This paper provides a state-of-the-art comprehensive description of CCHS and of the components of diagnostic evaluation and multi-disciplinary management, as well as considerations for future research.
Awareness and knowledge of the diagnosis and management of this rare disease should be brought to a large health community including adult physicians and health carers.
The aim of this study was to analyze the exhaled volatile organic compounds (VOCs) profile, airway microbiome, lung function and exercise performance in congenital diaphragmatic hernia (CDH) patients ...compared to healthy age and sex-matched controls. A total of nine patients (median age 9 years, range 6-13 years) treated for CDH were included. Exhaled VOCs were measured by GC-MS. Airway microbiome was determined from deep induced sputum by 16S rRNA gene sequencing. Patients underwent conventional spirometry and exhausting bicycle spiroergometry. The exhaled VOC profile showed significantly higher levels of cyclohexane and significantly lower levels of acetone and 2-methylbutane in CDH patients. Microbiome analysis revealed no significant differences for alpha-diversity, beta-diversity and LefSe analysis. CDH patients had significantly lower relative abundances of
and
. CDH patients exhibited a significantly reduced Tiffeneau Index. Spiroergometry showed no significant differences. This is the first study to report the VOCs profile and airway microbiome in patients with CDH. Elevations of cyclohexane observed in the CDH group have also been reported in cases of lung cancer and pneumonia. CDH patients had no signs of impaired physical performance capacity, fueling controversial reports in the literature.
To examine the trajectory of forced expiratory volume in 1 s (FEV
) using data from the European Cystic Fibrosis Society patient registry (ECFPR) collected from 2008 to 2016,
the era before highly ...effective modulator therapy (HEMT). We evaluated risk factors for FEV
decline.
The study population included patients with a confirmed diagnosis of cystic fibrosis recorded in the ECFPR (2008-2016). The evolution of FEV
% predicted (%FEV
) with age, and the yearly change in %FEV
were evaluated. Risk factors considered were cystic fibrosis transmembrane conductance regulator (
) mutation class, gender, age at diagnosis, neonatal screening, meconium ileus, sweat chloride concentration at diagnosis and country's income level.
We used 199 604 FEV
recordings from 38 734 patients. The fastest decline was seen during puberty and in patients diagnosed before the age of 10 years. Males had a higher %FEV
, but a higher yearly %FEV
loss between the ages of 15 and 25 years. We showed stabilisation and even improvement in %FEV
over age in adults with a class III
mutation, but a steady decline in patients homozygous for F508del or with both mutations of classes I/II. A faster decline in %FEV
was found in patients from low-income countries compared to a similar %FEV
evolution in patients from middle- and high-income countries.
These longitudinal FEV
data reflect the reality of cystic fibrosis across Europe in the era pre-HEMT, and can serve as baseline for comparison with the post-HEMT era. The similar evolution in middle- and high-income countries underlines opportunities for low-income countries.
Assessment and causes of stridor Pfleger, Andreas; Eber, Ernst
Paediatric respiratory reviews,
03/2016, Volume:
18
Journal Article
Peer reviewed
Summary Stridor is a variably pitched respiratory sound, caused by abnormal air passage during breathing and often is the most prominent sign of upper airway obstruction. It is usually heard on ...inspiration (typically resulting from supraglottic or glottic obstruction) but also can occur on expiration (originating from obstruction at or below glottic level and/or severe upper airway obstruction). Stridor due to congenital anomalies may exist from birth or may develop within days, weeks or months. Various congenital and acquired disorders prevail in neonates, infants, children, and adolescents, and have to be distinguished. History, age of the child and physical examination together often allow a presumptive diagnosis. Further investigations may be necessary to establish a definite diagnosis, and flexible airway endoscopy is the diagnostic procedure of choice in most circumstances (“stridor is visible”).
Despite recent developments, the role of sirolimus in the heterogeneous spectrum of vascular anomalies is yet to be defined, in terms of indication, dosage, and therapy duration, recognizing both its ...potential and limitations.
We retrospectively analyzed 16 children with vascular anomalies treated with sirolimus in two pediatric centers between 2014 and 2020 male:
= 7, the median age at diagnosis: 4.6 months (range, 0-281.4). In addition, repetitive volumetric analyses of the vascular anomalies were performed when possible (11 cases).
Ten patients were diagnosed with vascular malformations and 6 with vascular tumors. The mean therapy duration was 27.2 months (range, 3.5-65). The mean sirolimus level was 8.52 ng/ml (range, 5.38-12.88). All patients except one with central conducting lymphatic anomaly responded to sirolimus, with the most noticeable volume reduction in the first 4-6 months. Additional administration of vincristine was needed in five patients with kaposiform hemangioendothelioma and yielded a response, even in cases, refractory to sirolimus monotherapy. As a single agent, sirolimus led to impressive improvement in a patient with another vascular tumor-advanced epithelioid hemangioendothelioma. Complicated vascular malformations required long-term sirolimus therapy. Side effects of sirolimus included mucositis and laboratory abnormalities. No major infectious episodes were recorded. An infant with COVID-19, diagnosed while on sirolimus therapy, presented with a mild course.
In the current series, we reported limitations of sirolimus as monotherapy, addressing the need to redefine its indications, and explore combination regimens and multimodal treatment strategies. Tools for objective evaluation of response trends over time could serve as a basis for the establishment of future therapeutic algorithms.
Primary pulmonary lymphangiectasis (PPL) is a rare congenital developmental abnormality of the lung with a generally poor prognosis. Only a limited number of patients with neonatal‐onset PPL have ...been reported to survive. We present the case of a male preterm infant (gestational age 34 weeks 6 days) with histologically confirmed PPL, complicated by hydrops fetalis, bilateral hydrothorax (treated in utero with pleuro‐amniotic shunts), and immediate respiratory distress at birth. He survived after extensive neonatal intensive care therapy and was discharged home at the age of 7 months. At last follow up he was 3 years 7 months old, still requiring assisted ventilation via tracheostomy, having recurrent episodes of wheezing and had mild global developmental delay. This case demonstrates that survival beyond the neonatal period is possible even with severe PPL but long‐term morbidity may be relevant, and multidisciplinary management and close follow up are essential.
Summary There are many causes of acute severe upper airway obstruction (UAO) in children. The timing of symptom onset and the presence of fever will help to distinguish infectious from non-infectious ...conditions. Signs and symptoms from congenital malformations often present at birth but may also develop over time. The most common cause of UAO in children is croup. Choking on a foreign body also occurs relatively frequently. Evaluation of the child with UAO starts with a detailed history followed by a thorough physical examination, including an assessment of severity. Severe airway obstruction will result in respiratory failure. This situation requires an immediate response. A child with partial airway obstruction may initially have an adequate airway. However, this situation can deteriorate rapidly. Therefore, providing supportive care and mobilizing resources for definitive airway management may be the most appropriate interventions.
Gorham-Stout syndrome is a rare disease characterized by vascular proliferation in the bones, effecting osteolysis. When it is complicated by chylothorax, the prognosis is poor. The present case ...illustrates successful management of chylothorax by a combination of surgery (thoracic duct ligation and excision of lymphangiomatous tissue combined with pleurodesis) and treatment with alpha-2b interferon. Treatment in 38 published cases is reviewed.
AbstractBackgroundMonitoring changes in the epidemiology of cystic fibrosis (CF) pathogens is essential for clinical research, quality improvement, and clinical management. MethodsWe analyzed data ...reported to the European Cystic Fibrosis Society Patient Registry (ECFSPR) from 2011 to 2016 to determine the overall and the age-specific annual prevalence and incidence of selected CF pathogens and their trends during these years. The ECFSPR collects data on three chronic infections: Pseudomonas aeruginosa (PsA), Burkholderia cepacia complex Species (BCC) and Staphylococcus aureus (SA), as well as on the occurrence of non-tuberculous mycobacteria (NTM) and Stenotrophomonas maltophilia (SM). The same analyses were performed for different country groups, according to their gross national income (GNI). ResultsThe pathogens with the highest prevalence were SA and PsA, with prevalence, in 2016, equal to 38.3% and 29.8% respectively, followed by SM (8.1%). The pathogens with the lowest prevalence were NTM (3.3%) and BCC (3.1%). The overall prevalence and incidence significantly decreased for PsA; they also decreased for BCC, while they increased significantly for SA. The overall prevalence of NTM and SM increased significantly. The most considerable prevalence changes were observed for PsA, which decreased across all income country groups and all age strata (with the exception of 0–1 years) The prevalence and incidence of pathogens differed significantly according to GNI. ConclusionsThe epidemiology of CF pathogens in Europe has changed; epidemiologic data differ significantly among countries with different socio-economic status. The causes of these observations are multifactorial and include improvements in clinical care and infection control.
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