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Performance: Congenital pulmonary malformations (CPM) are rare and can be associated with high morbidity. Clinical presentation, diagnostic procedures, imaging, and therapy of CPM are discussed., Achievements: Today, most CPM can be diagnosed prenatally by ultrasound. Postnatally, respiratory symptoms up to respiratory failure and recurrent lower respiratory tract infection are typical findings. Due to low diagnostic accuracy of chest x‑ray in CPM, all children with prenatal diagnosis of CPM or postnatally suspected CPM should undergo cross-sectional imaging., Practical Recommendations: Based on imaging alone, the various subtypes of CPM cannot be definitively differentiated, which is why histological confirmation remains the gold standard. Surgical resection is the standard of care with minimally invasive procedures increasingly being employed. In certain situations, a watch-and-wait approach is possible., (© 2024. The Author(s), under exclusive licence to Springer Medizin Verlag GmbH, ein Teil von Springer Nature.)

Objectives: To illustrate the clinical and radiological presentation of a rare etiology of nasal obstruction in neonates, midnasal stenosis (MNS), including a comparison of nasal dimensions with those of normal infants., Methods: We retrospectively reviewed medical charts and computerized tomography (CT) imaging of neonates with nasal obstruction diagnosed as stenosis in the midnasal area in a tertiary pediatric medical center. MNS was defined clinically by inability to visualize the middle turbinate with an endoscope despite the absence of stenosis of the anterior aperture or any gross septal deviation. CT measurements of the midnasal width were taken by an experienced neuroradiologist. We compared widths between the bony inferior turbinate to the bony septum in the narrowest area of symptomatic patients, to widths in a control group of asymptomatic children., Results: Nine neonates from birth to three months old presenting with nasal obstruction, severe stertor, and blocked nasal passage at the midnasal level in endoscopic examination, were diagnosed with MNS. 6/9 had CT scans. Four had isolated unilateral stenosis, two unilateral MNS and contralateral choanal atresia, and three bilateral MNS. All patients were managed conservatively, initially with nasal saline irrigation and local steroids and topical antibiotics; Median time to resolution of symptoms was 14 days. When comparing the dimensions at the midnasal narrowest area of the stenotic group with a control group of 139 healthy children, the median bony width was 1.7 mm vs. 3.2 mm, respectively (p < 0.00001). Average dimensions according to age groups until the age of 12 months are given., Conclusion: In neonates with nasal obstruction, when choanal atresia and pyriform aperture stenosis are excluded, stenosis of the midnasal area should be considered. Most of these neonates can be managed conservatively., Level of Evidence: 4., Competing Interests: Declaration of competing interest The authors have no conflicts of interest to declare., (Copyright © 2020. Published by Elsevier B.V.)

Introduction: Congenital midnasal stenosis (MNS) is an extremely rare disease which may be life threatening, and shows difficulty in diagnosis and management. This case series summarizes superiority of using intranasal mometasone furoate spray (IMS) and continuous positive airway pressure (CPAP) to treat nasal obstruction in neonates with MNS., Methods: This study reviewed six consecutive cases of MNS., Results: Three patients were treated with IMS and CPAP. Two patients were treated with endoscopic balloon dilatation without stenting, followed by IMS and CPAP due to persisting nasal obstruction after the operation. One patient was treated with endoscopic balloon dilatation without stenting alone., Conclusion: This study is the first to review the use of CPAP and IMS as an effective therapy for some patients with MNS. It suggests that conservative management with CPAP and IMS may be an alternative therapeutic option to surgery., Competing Interests: Declaration of competing interest No potential conflict of interests relevant to this paper was reported., (Copyright © 2020 Elsevier B.V. All rights reserved.)

Early enzyme replacement therapy (ERT) improve long-term outcomes in patients with infantile-onset Pompe disease (IOPD). Our cohort of patients with IOPD at Taipei Veterans General Hospital (TVGH) joined Taiwan Pompe newborn screening program from 2008, testing more than one million newborns until 2018. By 2010, we had established rapid diagnostic strategies. Now, the average age of ERT initiation starts at an average age of <10 days-old, the earliest group in the world. However, they still presented some airway problems. We present a retrospective study focused on airway abnormalities in these patients along 8 years of observation. Fifteen patients with IOPD, who received very early treatment at a mean age of 8.94 ± 3.75 days, underwent flexible bronchoscopy (FB) for dynamic assessment of the whole airway. Long-term clinical outcomes and relevant symptoms of the upper airway were assessed. All patients in the study had varying degrees of severity of upper airway abnormalities and speech disorders. The three oldest children (Age 94, 93, and 88 months, respectively) had poor movement of the vocal cords with reduced abduction and adduction and had silent aspiration of saliva through the glottis during respiration. This is the largest cohort study presented to date about airway abnormalities in very early treated patients with IOPD patients by FB. Despite very early treatment, we observed upper airway abnormalities in these IOPD patients. In IOPD, upper airway abnormalities seem inevitable over time. We suggest early and continuous monitoring for all IOPD patients, even with early and regular treatment., (© 2020 Wiley Periodicals, Inc.)

Fetal tumors and other dysplastic masses are relatively rare. They are usually the result of failure of differentiation and maturation during embryonic or fetal life; dysplastic lesions may be the consequence of an obstruction sequence. In this review, we present the most commonly encountered tumors and masses seen during fetal life. Imaging characteristics, tumoral organ of origin, and its effect on the surrounding organs and overall fetal hemodynamics are descriptors that must be relayed to the fetal surgeon and maternal fetal medicine expert, in order to institute most accurate parental counseling and appropriate perinatal treatment plan., (© 2020 John Wiley & Sons, Ltd.)

Introduction: The purpose of this study was to evaluate short-term respiratory outcomes in neonates with symptomatic congenital lung malformations (CLM)., Methods: Consecutive newborns who underwent surgical resection of a CLM were retrospectively reviewed. Demographic, prenatal, and outcomes data were analyzed as appropriate (p < 0.05)., Results: Twenty-one neonates were managed at a median gestational age of 36.2 weeks [interquartile range (IQR), 33.8-39.0]. Endotracheal intubation was required in 14 (66.7%) for a median of 7.5 days [interquartile range (IQR), 3.0-25.8]. Three (14.3%) children underwent ex utero intrapartum treatment-to-resection, and another 14 (66.7%) had neonatal lung resections performed at a median age of 2.0 days (IQR, 0.08-19.5 days). Excluding one patient who received comfort care at birth, all neonates survived to hospital discharge with a median length of hospitalization of 36.5 days (IQR, 23.8-56.5). More than one-quarter were discharged on supplemental oxygen by nasal cannula. Based on a median follow up of 35.5 months (IQR, 19.0-80.8), CLM-related morbidity was still evident in 55.0%., Conclusion: Our study suggests a high incidence of complications and chronic respiratory morbidity after neonatal lung resection for symptomatic CLMs. These data highlight the need to provide realistic expectations in perinatal counseling discussions with families and the importance of coordinating appropriate multidisciplinary follow up for these children., Level of Evidence: Level IV., (Copyright © 2019 Elsevier Inc. All rights reserved.)

Background: Congenital pulmonary malformations (CPM) are a group of rare abnormal lung development lesions that can have various presentations. The aim of this study was to define the differences in the clinical presentations of CPM in neonates, infants, and children, and to review the outcomes., Methods: A retrospective study was conducted at a tertiary care hospital in southern Thailand between 1992 and 2016., Results: Fifty-four patients were diagnosed with CPM, and the median age at onset was 1.7 months (IQR, 0.03-10 months). There were 33 cases (61.1%) of congenital pulmonary airway malformations, two (3.7%) of bronchogenic cyst, eight of (14.8%) congenital lobar emphysema, seven of (13.0%) pulmonary sequestrations, and four of (7.4%) congenital lung cysts. Twenty patients under 1 month old and 16 patients who were 1-12 months old had symptoms of respiratory distress. In contrast, 13 patients >1 year old had symptoms of pulmonary infection. There were significant differences in the numbers of patients who had cyanosis (P = 0.006), cough (P < 0.001), and fever (P < 0.001) between the three age groups. Thirty-eight patients (70%) required surgical treatment involving lobectomy (78.9%). Median follow-up duration was 28.1 months (IQR, 3.7-9.4 months). Nine of 10 patients had abnormal lung function tests, and 80.6% of patients had no subsequent limitations in physical activities., Conclusions: Respiratory distress is the important clinical feature in neonates and infants, whereas the signs of pulmonary infection usually occur in children >1 year old. Good outcomes usually occur after surgery but need long-term follow up including lung function assessment., (© 2019 Japan Pediatric Society.)

Background: Postnatal evaluation of prenatally identified congenital lung malformations (CLMs) often includes a chest x-ray (CXR) and neonatal intensive care unit (NICU) admission for observation. With current efforts aimed at prioritizing value and resource utilization, we sought to assess the utility of this practice in infants with known CLMs. We hypothesized that CXR and NICU admission are overused and could be deferred in the majority of cases., Methods: Clinical and radiographic data for infants with CLM from 2007 to 2016 were reviewed with IRB approval. Regression models were developed for respiratory support (RS), symptoms within 30 days of discharge (Sx30), and abnormal CXR. Predictors included initial symptoms (IS), birth weight (BW), gestational age (GA), cyst-volume-ratio (CVR) and abnormal CXR. Odds ratios (ORs) and ROC curves were generated for significant predictors (p < 0.05)., Results: Fifty-eight infants were identified. Eight were excluded because birth or surgery occurred outside of our institution. Another four were excluded for requiring immediate surgery, leaving forty-six for full analysis. All infants underwent initial CXR and NICU admission, and 22 (47.8%) had an abnormal CXR. Higher CVR (OR = 6.69, p = 0.024) and lower BW (OR = 0.27, p = 0.028) both increased the odds of an abnormal CXR. Applying optimal ROC cutoffs for CVR and BW would have safely eliminated 21 of 46 CXRs, increasing CXR sensitivity from 48% to 68%. For RS and Sx30, no variable, including abnormal CXR, significantly predicted outcomes. Twenty-seven infants (59%) had a NICU stay of <24 h and only three patients (6.8%) developed Sx30., Conclusions: Both CXR and NICU admission appear to be overused in infants with CLM. CXR result did not predict need for respiratory support or symptoms following discharge, and thus may not aid in the initial evaluation or in the prediction of future care needs. Using CVR and birth weight can guide CXR use and optimize its sensitivity. Need for NICU admission could not be predicted, but a majority of infants spent <24 h in the NICU without intervention, suggesting that NICU admission was likely not needed for all infants in this setting., Level of Evidence: Study of diagnostic test, Level II evidence., (Copyright © 2018 Elsevier Inc. All rights reserved.)

Background: Survival of neonates with intrauterine renal insufficiency and oligo- or anhydramnios correlates with the severity of secondary pulmonary hypoplasia. Early prenatal diagnosis together with repetitive amnioinfusions and modern intensive care treatment have improved the prognosis of these neonates. Extracorporeal membrane oxygenation is an established treatment option, mainly applied to neonates with pulmonary hypoplasia caused by congenital diaphragmatic hernia. However, a few case reports of extracorporeal membrane oxygenation in neonates with lower urinary tract obstruction have been published., Case Presentation: We describe a case of a Caucasian male infant with prenatally diagnosed lower urinary tract obstruction and secondary pulmonary hypoplasia who was delivered spontaneously at 36 + 2 weeks of gestation. Venovenous extracorporeal membrane oxygenation was initiated on the first day of life for severe respiratory failure and consecutive hypoxemia despite treatment with inhaled nitric oxide and high-frequency oscillation. The patient was supported by extracorporeal membrane oxygenation for 10 days and extubated 6 weeks later. Hemofiltration was required on the second day of life because of renal insufficiency and was later replaced by peritoneal dialysis. The child was discharged after 4 months with nasal high-flow mild oxygen therapy and peritoneal dialysis., Conclusion: Neonatal extracorporeal membrane oxygenation support is a possible treatment option for neonates with lower urinary tract obstruction and pulmonary hypoplasia.

Introduction: The purpose of this study was to evaluate clinical outcomes in children with asymptomatic congenital lung malformations (CLM) who were initially managed nonoperatively., Methods: An IRB-approved retrospective review was performed on all CLMs at a single tertiary care referral center (Jan 2006-Dec 2016, n=140). Asymptomatic cases that did not undergo elective resection were evaluated for subsequent CLM-related complications based on clinical records and a telephone quality of life survey., Results: Out of 39 (27.9%) who were initially managed nonoperatively, 13 (33%) developed CLM-related symptoms and underwent surgical intervention at a median age of 6.8years (range, 0.7-19.8years). The most common indication for conversion to operative management was pneumonia (78%). Larger lesions, as measured by CT scan, were significantly associated with the need for subsequent surgical intervention (mean maximal diameter, 5.7 vs. 2.9cm; p=0.005). Based on survey data with a median follow up of 3.9years (range, 0.2-13.2years), 17% developed chronic pulmonary symptoms, including cough (11%) and asthma requiring bronchodilators (12%)., Conclusion: Although these data support nonoperative management as a viable alternative to surgical resection, at least one-third of CLM children eventually develop pneumonia or other pulmonary symptoms. Larger lesions are correlated with an increased risk for eventual surgical resection., Level of Evidence: Level IV., (Copyright © 2018 Elsevier Inc. All rights reserved.)

Purpose: The purpose of this study was to determine practice patterns of Canadian surgeons managing congenital pulmonary airway malformations (CPAMs) and factors influencing practice., Methods: Pediatric surgeons in Canada were surveyed regarding their experience, evaluation, and management CPAMs, and what factors they feel qualify patients for observation vs resection. Data were summarized, and Fisher's-Exact and Kruskal-Wallis Tests applied where appropriate., Results: Sixty eight percent (n=46) of surgeons responded. However, three surveys were incomplete and excluded. The median age of initial assessment by a pediatric surgeon was one month. 98% (42/43) use CXR for initial imaging, and 83% (36/43) recommend CT scan for further evaluation. Observation is offered always, almost always, or sometimes by 2%, 35% and 37%, respectively. Only 16% almost never, and 9% never offer it. Years in practice was not associated with this decision (p=0.41). Of surgeons who offer observation, 78% (28/37) use morphology to guide their decision, and 63% (21/37) use lesion size (<1cm to <5cms). 68%(23/37) consider the number of lesions, and 61%(14/23) of those only offer observation to solitary lesions., Conclusion: Most pediatric surgeons in Canada offer observational management to patients with asymptomatic CPAMs. While practice variations exist, detailed imaging with a CT scan early in life to determine the morphology, size, and number of lesions guides practice., Level of Evidence: V., (Copyright © 2018. Published by Elsevier Inc.)

Aim: Management of congenital pulmonary airway malformations (CPAM) is controversial, especially for asymptomatic patients. We aim to describe the clinical manifestations and management of CPAM at a tertiary paediatric hospital using a retrospective audit., Methods: Infants with CPAM were identified on the Fetal Diagnostic Unit database from 2007 to 2014. Information on antenatal and post-natal management was collected from medical record., Results: Thirty-five infants with antenatally diagnosed CPAM were included. Fetal CPAM volume ratio (CVR) was calculated from antenatal ultrasound measurement and used to categorise the infants into three groups of large (CVR ≥ 1.6, n = 8), medium (CVR of 0.5-1.6, n = 12) and small CPAM (CVR of ≤0.5, n = 15), respectively. Ten infants (10/35 = 29%) were symptomatic in the neonatal period. Overall, nine infants (26%) had surgical resection, among whom eight had large or medium-sized CPAM lesions as defined by the antenatal CVR. Three infants had neonatal emergency surgery and the remaining six had late elective surgery. Histology of eight cases showed CPAM, but one case showed congenital lobar emphysema. Criteria for surgery varied and included persistent symptoms after birth, complications during childhood and persistently abnormal chest X-ray. Most asymptomatic infants with CPAM were safely managed using a conservative approach, with no significant increase in late symptoms or complications., Conclusions: Conservative management of CPAM may be considered for infants/children who remain asymptomatic, especially those with a small lesion. For large and medium-sized CPAM, delineation using computed tomography is required, and surgery may be beneficial to prevent late symptoms and the risk of emergency surgery., (© 2017 Paediatrics and Child Health Division (The Royal Australasian College of Physicians).)

Background: Surgical resection of large symptomatic congenital pulmonary airway malformation (CPAM) in newborns has high risks of mortality and postoperative morbidity. This study aimed to report the clinical outcomes of newborns who underwent percutaneous transthoracic catheter drainage (PTCD) of large symptomatic CPAM before surgical resection., Methods: This was a retrospective, descriptive study based on review of the medical records of newborn infants who required surgical resection of large symptomatic CPAM at a single tertiary hospital from 2001 to 2017. The clinical outcomes were compared between patients who underwent surgical resection following PTCD (PTCD group) and those who underwent surgical resection alone (non-PTCD group)., Results: A total of 17 newborns were included. PTCD was performed in seven cases; the median age at the time of the initial PTCD was 4 days (range, 0-20 days). Following PTCD in all cases, chest radiograph demonstrated a dramatic reduction in the sizes of the cysts and improvement of mediastinal shift and the Alveolar-arterial oxygen difference decreased. The median duration between initial PTCD and surgery was 4 days (range, 2-33 days). PTCD-related complications included pneumothorax (n = 2), catheter displacement (n = 1), and failure to drain (n = 1). Compared with the non-PTCD group (6 of 10), the PTCD group had a tendency toward lower rates of postoperative complications (1 of 7)., Conclusion: PTCD can be an effective interim management for symptomatic newborn infants who require emergency surgical resection of large CPAM., (© 2017 Wiley Periodicals, Inc.)

The mucopolysaccharidoses (MPS) represent a heterogeneous group of lysosomal storage disorders, each one associated with a deficiency in one of the enzymes involved in glycosaminoglycan degradation. Sleep disorders are a frequent manifestation of all types of MPS. Underlying causes are diverse and comprised of both respiratory and central nervous system (CNS) abnormalities. Sleep disordered breathing such as obstructive sleep apnea and nocturnal hypoventilation can arise in patients with upper airway obstruction and/or with alterations in respiratory mechanics, causing restrictive pulmonary disease. MPS patients with CNS disease can also develop sleep disturbances unrelated to ventilatory impairments, often associated with severe behavioral problems or night-time epileptic seizures. The present review discusses the pathophysiology, evaluation, and management of sleep disorders in MPS based on information from a meeting on the brain in MPS, attended by an international group of experts (April 28-30, 2016, Stockholm, Sweden), and additional literature searches., (Copyright © 2017 Elsevier Inc. All rights reserved.)

Oculo-auriculo-vertebral spectrum and frontonasal dysplasia are two well-known examples of dysmorphology syndromes. Oculoauriculofrontonasal syndrome (OAFNS) is a clinical entity involving the characteristics of both OAVS and FND and is thought to be a result of the abnormal development of structures in the first and the second branchial arches, including the abnormal morphogenesis of maxillary processes. Herein we report a case of OAFNS with cliteral hypertrophy, premaxillary teeth, and inguinal hernia, features not previously reported in the literature.

Objective: Our study aimed at assessing the role of flexible bronchoscopy (FB) in improving diagnosis and management of children's respiratory conditions in the pediatric unit of FB, newly created and unique in Tunisia., Methods: Retrospective study including all the FB achieved in our pediatric unit from 2009 to 2014., Results: We performed 365 FB in 333 patients aged 46 months on average (1 month - 15 years), often under conscious anesthesia (81.6%). FB was performed for diagnostic purposes in 341 cases and for therapeutic purposes in 24 cases. Eight anatomical abnormalities were revealed in 22 patients. An intraluminal bronchial obstruction was found in 71 FB, mainly due to a foreign body (n=36). A vascular anomaly was responsible for nine cases out of 17 extraluminal obstructions. Airways malacia was observed in 60 FB. Bronchoalveolar lavage was performed in 196 cases. It was determinant in 43.9% of the cases. FB was of great diagnostic value in 74.8% of the cases. It influenced the management of the patients in 58% of the cases. The FB for therapeutic purposes was beneficial in all cases. Few complications occurred (5.5%)., Conclusion: FB is a safe tool providing precious diagnostic and/or therapeutic help for the clinician.

Congenital pulmonary airway malformation (CPAM) is one of the most common lung lesions detected prenatally. Despite the research efforts made in the past few years, controversy and lack of clarity in the literature still exist regarding nomenclature, classification, pathogenesis and the management of CPAM. Therefore, it is of greatest importance to delineate the natural history of CPAMs and to create a consensus to guide the management and follow-up of these lesions. This review will focus on classification systems, highlighting the most recent advancements in pathogenesis, and current practice in the prenatal diagnosis of CPAM. Strategies of prenatal management and postnatal management will be reviewed. Long-term follow-up, including lung cancer risk, is discussed and an outcome perspective is presented., (© 2016 S. Karger AG, Basel.)

Objectives/hypothesis: To describe a multidisciplinary approach to the treatment of airway vascular malformations (venous or lymphatic) with direct suspension rigid laryngoscopy and direct puncture transmucosal bleomycin sclerotherapy injected under road-mapping fluoroscopic monitoring, supplemented by Dyna-computed tomography utilization., Study Design: Case series., Methods: We performed a retrospective medical record and imaging review of four patients with venous malformations or lymphatic malformations located in the airway. Patients were treated with a combination of direct suspension laryngoscopy or rigid nasopharyngoscopy and image-guided direct puncture bleomycin sclerotherapy., Results: Two patients presented to our institution with extensive lymphatic malformation of the neck, parapharyngeal, and retropharyngeal spaces, and two presented with venous malformation of the nasopharynx and oropharynx. All patients were treated with multiple sclerotherapy and debulking procedures before undergoing combined direct transmucosal puncture bleomycin sclerotherapy guided by direct laryngoscopy or nasopharyngoscopy. All patients had complete resolution of disease while maintaining a safe airway., Conclusions: A multidisciplinary approach to airway vascular malformations with a combination of endoscopy and direct puncture bleomycin sclerotherapy was demonstrated to be a safe and effective treatment in our patient cohort. Direct laryngoscopy and nasopharyngoscopy provide easy access to the nasopharynx, oropharynx, retro- and/or parapharyngeal spaces and larynx. Unlike traditional agents, bleomycin induces minimal edema and therefore is an ideal substance to treat airway lesions., (© 2015 The American Laryngological, Rhinological and Otological Society, Inc.)

A broad spectrum of congenital upper airway anomalies can occur as a result of errors during embryologic development. In this review, we will describe the clinical presentation, diagnosis, and management strategies for a few select, rare congenital malformations of this system. The diagnostic tools used in workup of these disorders range from prenatal tests to radiological imaging, swallowing evaluations, indirect or direct laryngoscopy, and rigid bronchoscopy. While these congenital defects can occur in isolation, they are often associated with disorders of other organ systems or may present as part of a syndrome. Therefore workup and treatment planning for patients with these disorders often involves a team of multiple specialists, including paediatricians, otolaryngologists, pulmonologists, speech pathologists, gastroenterologists, and geneticists., (Copyright © 2015. Published by Elsevier Ltd.)

We present the first known instance of type 1 laryngeal cleft (T1LC) in a set of triplets. Individuals with T1LC typically present on a spectrum, from asymptomatic to recurrent aspiration pneumonias and failure to thrive. Each of the triplets in this family had a unique clinical presentation and treatment plan. Management of T1LC should be influenced by the severity of symptoms rather than the presence or absence of the anomaly itself. These three cases also support the notion that severity of symptoms may be independent of shared biological parents, home environment, and age., (Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.)

This review uses the most up-to-date literature to help guide obstetrical providers through the diagnosis and management of perinatal lung malformations. These lesions, which include congenital pulmonary airway malformation [CPAM, formerly congenital cystic adenomatoid malformation (CCAM)] and bronchopulmonary sequestration (BPS), are relatively rare but are becoming increasingly common because of the improved resolution and enhanced sensitivity of fetal ultrasound. Serial assessment throughout pregnancy remains the norm rather than the exception. Perinatal management strategies can differ based on the sonographic characteristics and dynamic growth patterns of lung masses. Fetal magnetic resonance imaging and other diagnostic testing can sometimes be helpful in providing additional prognostic information. Over the last decade, the importance of echocardiography and utility of maternal steroids have been recognized in cases of non-immune hydrops. Fetal surgery is now rarely performed. Decisions regarding whether delivery of these fetuses should occur in a tertiary care center with pediatric surgery coverage versus delivery at a local community hospital are now highly relevant in most prenatal counseling discussions with families. Large lung malformations may require urgent surgical removal in the early postnatal period because of respiratory distress. Other complications, such as recurrent pneumonia, pneumothorax, and cancer, are indications for lung resection on an elective basis. In the vast majority of cases, the overall prognosis remains excellent.

Down syndrome is the most common chromosomal abnormality among live born infants reaching up to 1 in 700 births and is characterized by a variety of dysmorphic features and medical conditions. The potential to reach their full developmental capacities can be hindered by ear, nose, and throat problems. Hence, knowledge of the various anatomic peculiarities that predispose them to various medical conditions is fundamental. The medical states resulting from these variations and suggested treatment options are reviewed. Such conditions include refractory otitis, eustachian tube dysfunction, laryngomalacia, tracheal stenosis, obstructive sleep apnea, hearing loss, and voice and articulatory impairments. This review revisits besides the otolaryngeal pathologies, special medical considerations in Down's syndrome patients that might affect surgical outcomes used in the management of the above pathologies.

This review focuses on the prenatal management and outcome of echogenic lung lesions and isolated hydrothorax of the fetus. We give an overview of the most common forms of echogenic lung lesions like cystic adenomatoid malformation of the lung and bronchopulmonary sequestration as well as of congenital high airway obstruction sequence. We review the occurrence, appearance, pathophysiology and natural history of these lesions. Furthermore we discuss selection criteria for intrauterine treatment and algorithms for prenatal surveillance of affected fetuses., (© Georg Thieme Verlag KG Stuttgart · New York.)

Aim: To review the current knowledge on congenital and acquired developmental problems of the upper airway in newborns and infants., Data Synthesis: Causes of airway obstruction include problems with the nasal airway (choanal atresia), craniofacial syndromes (Apert syndrome, Crouzon syndrome), problems with facial/tongue anatomy (Pierre-Robin syndrome), the tongue (Down syndrome), or the larynx (laryngomalacia, vocal cord palsy, subglottic stenosis, subglottic hemangioma), along with lower developmental problems (tracheo/bronchomalacia). After establishing a safe airway, a detailed assessment and appropriate management are necessary. Treatment may involve simple observation, conservative management, chest physiotherapy, CPAP ventilation, and surgery, urgently or in a second phase., Conclusion: Upper airway diseases in neonates and infants may be life threatening, or challenging regarding diagnosis and management. There should be a very low threshold for referring these children, after establishing a safe airway, for a specialist opinion and care in a tertiary unit, if local facilities are limited or unavailable., (Copyright © 2012 Elsevier Ltd. All rights reserved.)

Cystic fibrosis (CF) infants are born with normal airway anatomy, and dilatation of mucus glands in smaller airways has been described as the earliest histological changes in the lung of patients. This and other evidence has led to the concept that the small airways may be the region demonstrating initial pathology. Studies clarifying this have been challenged by the lack of a clear definition of what constitutes "small airways" and the difficulties to find accurate measures to quantify and track abnormalities in this region of the lung. Dynamic lung function test are not ideally suited to capture small airway abnormalities as the overall surface area of the small airways is about 40 times greater than that of central airways. Measures that are linked to airway size therefore often fail to capture abnormalities in a disease such as cystic fibrosis that is unevenly distributed throughout the lung. This review summarizes our current understanding of the role of small airways in disease development in cystic fibrosis patients and describes the spectrum of diagnostic tools available to diagnose and follow small airway disease and highlight the opportunities as well as challenges of targeting small airways via aerosol therapy in CF patients.

Brachycephalic airway syndrome (BAS) is a group of primary and secondary abnormalities that result in upper airway obstruction. Several of these abnormalities can be addressed medically and/or surgically to improve quality of life. This article reviews potential complications, anesthetic considerations, recovery strategies, and outcomes associated with medical and surgical management of BAS.

Management of a child's airway is one of the main sources of stress for anesthetists who do not routinely anesthetize children. Unfortunately, trainees are gaining less experience in pediatric airway management than in the past, which is particularly difficult at a time when some beliefs about airway management are being challenged and airway management is less standardized. Fortunately, most children have an easily managed, normal airway. Nevertheless, it is of vital importance to teach our trainees the basic airway skills that are probably the most important skill in an anesthetists' repertoire when it comes to a difficult airway situation. This review focuses on the airway management in children with a normal and a challenging airway. Different choices of airway management in children, and their advantages and disadvantages are discussed. Furthermore, the three broad causes of a challenging airway in children and infants are highlighted - the difficulty obtaining a mask seal, difficulty visualizing the vocal cords, and the third cause in which the larynx can be visualized but the difficulty lies at or beyond that level. Guidelines are given how to deal with these patients as well as with the feared but rare scenario of 'cannot ventilate, cannot intubate' in children., (© 2012 Blackwell Publishing Ltd.)

This article reviews some of the otolaryngologic manifestations of skeletal dysplasias. Achondroplasia is discussed most comprehensively. Skeletal dysplasias are bone and cartilage disorders that disrupt the development of the long bones, craniofacial skeleton, and vertebral column, with the most notable characteristic being short stature. Children with skeletal dysplasias have various medical problems. These children often develop head and neck manifestations of their disorders. Hearing loss, middle ear disease, and respiratory difficulties are seen in these children. Otolaryngologists must be knowledgeable about these disorders to diagnose, treat, and appropriately refer children with skeletal dysplasias., (Copyright © 2012 Elsevier Inc. All rights reserved.)

Non-tumoral vascular disorders of the lung are multiple, even if cases diagnosed in the adulthood are rare. They include congenital or acquired conditions, which related symptoms, if present, are non specific. This explains why their diagnosis is challenging and usually delayed. Surgery is the cornerstone of their treatment, although interventional radiology represents currently a less invasive alternative option for some of them., (Copyright © 2012 Elsevier Masson SAS. All rights reserved.)

Advances in antenatal imaging over the past 10 years have completely changed diagnosis and management of congenital lung disease, especially for congenital cystic adenomatoid malformations and sequestrations that are the two lesions most commonly detected. If early surgical excision is required for symptomatic cases, management of asymptomatic malformations is still discussed. The natural evolution and consequences of later complications of congenital lung malformations need to be compared with the benefits of elective resection and surgical morbidity. Complete regression of sequestrations or clinical and morphological improvement in congenital lobar emphysema pleads for clinical watching. On the other hand, resection is advocated for cystic malformations, because of an increased risk of acute respiratory distress, later infections and the possibility of malignant transformation. Even though the proportion of asymptomatic patients that go on to develop symptoms is hard to evaluate, an argument for elective surgery is a better outcome than emergency surgery. Further studies and long term follow-up are still needed to understand the natural history of congenital lung malformations precisely and help to define the optimal way in which to manage them., (Copyright © 2011 SPLF. Published by Elsevier Masson SAS. All rights reserved.)

The complete type of anomalous systemic arterial supply to normal basal lung segments is characterized by anomalous systemic artery supply to all or some of the normal basal segments with an absent corresponding pulmonary artery. Surgical intervention generally is required. This study reports on four patients with this anomaly with hemoptysis or a combination of other symptoms who underwent successful transarterial embolization using metallic coils or an Amplatzer vascular plug. To our knowledge, only six such cases treated with transarterial embolization have been reported previously in adult patients.

Purpose of Review: The aim of this review is to outline the priorities in the anaesthetic management of the child with facial abnormalities. It presents a practical approach to this, based on the anatomical site of the deformity and degree of mouth opening., Recent Findings: The literature reviewed primarily consists of case reports and series describing anaesthesia in children with relevant syndromes. Also scrutinized is the literature examining the role and effectiveness of recently developed airway management equipment., Summary: This is a challenging area of anaesthetic practice but the use of a structured approach, combined with supraglottic airway devices and fibre-optic and indirect laryngoscopic equipment, has allowed the safe administration of anaesthesia to almost all children with conditions resulting in facial abnormality.

Congenital lung lesions comprise a broad spectrum of rare but clinically significant developmental abnormalities, including congenital cystic adenomatoid malformation, bronchopulmonary sequestrations, congenital lobar emphysema, and bronchogenic cysts, which are commonly surgically treated. Although the terms congenital cystic adenomatoid malformation, bronchopulmonary sequestrations, congenital lobar emphysema, and bronchogenic cysts are entrenched in clinical usage and comfortably correspond to rigid pathologic definitions, there is a considerable overlap in the findings. Disregarding the controversy about lesion nomenclature and classification, it is widely accepted that congenital lung lesions result from perturbations in lung and airway embryogenesis. It is generally accepted that both place (level in the tracheobronchial tree) and timing (gestational age) of the embryologic insult correlates with the type of lesion and histopathology that is manifested. The objective of this review is to briefly review normal lung development and to analyze the known molecular mechanisms underlying those diseases., (Copyright 2010 Elsevier Inc. All rights reserved.)

Foregut cystic developmental malformations are rare developmental anomalies. The problems inherent to these malformations are their presentation across specialties that include embryology, anatomy, pathology, thoracic foregut surgery, pediatric surgery and general abdominal surgery. The direct consequence of this variation has resulted in diverse terminology, classification and a failure to identify the correlation. The article aims to summarize and unify the embryological concepts of foregut cystic malformation, to suggest a generic title to the various groups of these interrelated disorders and a uniform use of nomenclature on the basis of unifying concepts of embryopathogeneis.

Objectives: The objectives are to describe health outcomes and hospital resource use of children after tracheotomy and identify patient characteristics that correlate with outcomes and hospital resource use., Patients and Methods: A retrospective analysis of 917 children aged 0 to 18 years undergoing tracheotomy from 36 children's hospitals in 2002 with follow-up through 2007. Children were identified from ICD-9-CM tracheotomy procedure codes. Comorbid conditions (neurologic impairment [NI], chronic lung disease, upper airway anomaly, prematurity, and trauma) were identified with ICD-9-CM diagnostic codes. Patient characteristics were compared with in-hospital mortality, decannulation, and hospital resource use by using generalized estimating equations., Results: Forty-eight percent of children were

Impaired lung development afflicts a range of newborns cared for by paediatric surgeons. As a result the speciality has led in the development of surgical models that illustrate the biomechanical regulation of lung growth. Using transgenic mutants, biologists have similarly discovered much about the biochemical regulation of prenatal lung growth. Airway smooth muscle (ASM) and its prenatal contractility airway peristalsis (AP) represent a novel link between these areas: ASM progenitors produce an essential biochemical factor for lung morphogenesis, whilst calcium-driven biomechanical ASM activity appears to regulate the same. In this invited paper, I take the opportunity both to review our recent findings on lung growth and prenatal ASM, and also to discuss mechanisms by which ASM contractility can regulate growth. Finally, I will introduce some novel ideas for exploration: ASM contractility could help to schedule parturition (pulmonary parturition clock) and could even be a generic model for smooth muscle regulation of morphogenesis in similar organs.

In this article, the most important lower respiratory tract malformations are briefly reviewed, with special focus on those factors that may have some impact on the long-term respiratory outcome of specific lesions, like the amount of lung tissue resected, compensatory lung growth, lung hypoplasia, intensive care and mechanical ventilation.

Objectives: Analysis of our experience and propositions on the diagnosis and treatment of congenital bronchopulmonary malformations (BPM)., Population and Methods: Retrospective study of BPM diagnosed between 1997 and 2001. Analysis of clinical spectrum, diagnosis tools, treatment, and clinical outcome., Results: Thirty-two cases of BPM have been investigated (11 cystic adenomatoid malformations, 7 pulmonary sequestrations, 7 bronchogenic cysts, 4 congenital lobar emphysema, and 3 complex emphysematous malformations). Nineteen patients had a prenatal diagnosis. For 9 others, symptoms occurred before 4 years of age. Evaluation included a CT-scan in all patients (BPM involution in one). Surgical treatment was performed in 30 patients (lobectomy in 18), with a mean age of 7 months for asymptomatic patients. During the follow-up (mean: 3 years), respiratory symptoms were reported in 10 cases, 3 of them were related to the BPM., Discussion: Improvement in prenatal ultrasound diagnosis modified the management strategy. Considering the risk of pulmonary complications, surgical treatment is required during the first months of life. For congenital lobar emphysema, and some pulmonary sequestrations or small cystic adenomatoid malformations (<3 cm), conservative attitude may be preferred. BPM justify a multidisciplinary management.

Unilateral pulmonary hypoplasia is a rare cause of respiratory distress in the neonate. It is usually secondary to other causes such as diaphragmatic hernia. We present a case of a newborn with primary hypoplasia of the right upper lobe who was later found to also have tracheobronchomalacia. We describe the clinical course through early childhood.

A young man had anomalous connection of the veins draining the upper lobe of the left lung to both a left-sided vertical vein and the left atrium. The ratio of pulmonary to systemic flows was 1.7 : 1, and he was symptomatic with evidence of volume overload of the right heart. He was successfully treated by percutaneous placement of an Amplatzer ductal occlusion device into the vertical vein.

Most causes of upper airway obstruction are rare in the neonatal period and during infancy. They may, however, cause major respiratory problems either initially or during the first few weeks of life. It is important to recognise these problems at an early stage so that appropriate measures to overcome airway obstruction can be initiated, thus avoiding significant hypoxia-related complications. Specific treatment includes the use of nasal stents, a nasopharyngeal airway or, in severe cases, tracheostomy. Many such infants have associated feeding problems secondary to the airway obstruction and associated swallowing difficulties, which can lead to recurrent aspiration. The anomalies seen in clinical practice are best classified anatomically. Treatment is aimed at overcoming the mechanical effects of airway obstruction and maximising nutritional input so as to promote growth of the airway and long-term recovery of normal upper airway function.

Medical records were reviewed to describe characteristics, report clinical and resource measures, and determine if differences exist between the diagnostic groups of prematurity and multiple congenital anomalies/neurologic conditions for initial admissions of 37 infants and toddlers to an inpatient pulmonary rehabilitation program. More than 75% of the children had a tracheostomy at admission and discharge. Forty-six percent of the sample was admitted requiring only oxygen, whereas 51% were discharged requiring only oxygen and not mechanical ventilation. Thirty percent of the children weaned to a less invasive mode of ventilation while just under half of the children were discharged home. Between-group comparisons indicated statistically significant differences for nutritional support at discharge (p < or = 0.05) and discharge disposition (p = 0.04). Complete weaning of oxygen or ventilator support during an initial inpatient pulmonary rehabilitation admission occurred less frequently than weaning to a less invasive mode of ventilation. This is an important consideration for referring children to rehabilitation programs, for clinical program improvement activities, and for setting realistic expectations for referral sources, patients and families, clinical staff, and payers. Further study is recommended using clinical data in program planning, in program improvements, and for setting outcome expectations for infants and toddlers dependent on pulmonary technology.

Objective: To determine the cause of congenital airway abnormalities in pediatric patients requiring hospitalization for their respiratory status., Design and Setting: Case series in a tertiary care center., Patients: A 5-year retrospective chart review was conducted at our institution. A total of 174 patients were identified who required hospitalization for their respiratory status as a result of a congenital airway abnormality., Results: Of the 174 patients, 114 (65.5%) were male and 60 (34.5%) were female. Eighty patients (47%) presented within the first 3 months of life. Forty-six patients (26%) were born prematurely, and 49 patients (28%) were diagnosed as having gastroesophageal reflux. The majority of patients (139 [80%]) had multiple presenting symptoms or signs. Stridor was the most common (129 [74%]), followed by accessory respiratory effort, cyanosis, apnea, and failure to thrive. Diagnosis was made at the time of surgical evaluation in 91% of the patients, with the remaining diagnoses made using radiological findings and/or clinical evaluation. Sixty-five patients (37%) had multiple sites of airway abnormalities; laryngeal abnormalities were noted almost 3 times as often as tracheal abnormalities (161 vs 62, respectively). Of the laryngeal abnormalities, laryngomalacia was the most common, followed by glottic web, subglottic stenosis, vocal-cord paralysis, and subglottic hemangioma. Tracheomalacia was the most common tracheal abnormality, followed by external compression and tracheal stenosis. Thirty-three patients (19%) required tracheotomy for management of recurrent respiratory decompensation., Conclusions: While congenital airway abnormalities are usually self-limited, those patients requiring hospitalization represent a group with a more severe respiratory status who have a greater chance of requiring tracheotomy. The recognizable percentage of patients with gastroesophageal reflux and prematurity accounts for comorbid factors in the need for hospitalization for respiratory issues related to congenital airway abnormalities.