[Congenital pulmonary malformations : Diagnosis and treatment]. / Kongenitale Lungenfehlbildungen : Diagnostik und Therapie.

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 x­ray 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.

Clinical and imaging evaluation of Congenital Midnasal Stenosis.

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.

Congenital midnasal stenosis: Conservative management.

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.

Airway abnormalities in very early treated infantile-onset Pompe disease: A large-scale survey by flexible bronchoscopy.

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.

Imaging of fetal tumors and other dysplastic lesions: A review with emphasis on MR imaging.

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.

Clinical presentation and outcome in congenital pulmonary malformation: 25 year retrospective study in Thailand.

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.

Short-term respiratory outcomes of neonates with symptomatic congenital lung malformations.

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.

Routine postnatal chest x-ray and intensive care admission are unnecessary for a majority of infants with congenital lung malformations.

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.

Extracorporeal membrane oxygenation support in a newborn with lower urinary tract obstruction and pulmonary hypoplasia: a case report.

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.

Decision-Making Criteria for Observational Management of Congenital Pulmonary Airway Malformations (CPAMs).

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.

Asymptomatic congenital lung malformations: Is nonoperative management a viable alternative?

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.

Conservative post-natal management of antenatally diagnosed congenital pulmonary airway malformations.

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.

Pathophysiology, evaluation, and management of sleep disorders in the mucopolysaccharidoses.

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.

Transthoracic catheter drainage for large symptomatic congenital pulmonary airway malformation.

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.

Oculoauriculofrontonasal Dysplasia Syndrome With Additional Clinical Features.

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.

Flexible bronchoscopy contribution in the approach of diagnosis and treatment of children's respiratory diseases: the experience of a unique pediatric unit in Tunisia.

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.

Prenatal and Postnatal Management of Congenital Pulmonary Airway Malformation.

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.

Rare Upper Airway Anomalies.

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.

Endoscopic transmucosal direct puncture sclerotherapy for management of airway vascular malformations.

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.

The varying presentations of type I laryngeal cleft: illustrative cases in a set of triplets.

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.