RESUMEN
Nevus comedonicus syndrome (NCS) is a rare epidermal nevus syndrome characterized by ocular, skeletal, and central nervous system anomalies. We present a 23-month-old boy with a history of a congenital pulmonary airway malformation (CPAM) of the lung and a congenital cataract who developed progressive linear and curvilinear plaques of dilated follicular openings with keratin plugs (comedones) on parts of his scalp, face, and body consistent with nevus comedonicus. MRI of the brain demonstrated an aneurysm of the right internal carotid artery. Genetic testing identified NEK9 c.1755_1757del (p.Thr586del) at mean allele frequency of 28% in the nevus comedonicus. This same mutation was present in the CPAM tissue. This is the first case of a CPAM in a patient with an epidermal nevus syndrome. This case expands the phenotype of nevus comedonicus syndrome to include CPAM and vascular anomalies.
Asunto(s)
Aneurisma/fisiopatología , Malformación Adenomatoide Quística Congénita del Pulmón/fisiopatología , Mutación , Quinasas Relacionadas con NIMA/genética , Nevo/patología , Trastornos de la Pigmentación/patología , Neoplasias Cutáneas/patología , Humanos , Lactante , Masculino , Nevo/genética , Fenotipo , Trastornos de la Pigmentación/genética , Neoplasias Cutáneas/genéticaRESUMEN
Background: Congenital pulmonary airway malformation (CPAM) is a collection of non-hereditary, developmental anomalies. Our aim was to analyze the histological profiles and prevalence of CPAMs diagnosed in our center. Methods: A retrospective study of all CPAMs diagnosed from January 1999 to May 2018 from a general hospital pathology service was performed. Results: There were 79 cystic lesions encountered in fetuses, neonates, and children, 15 of which were CPAMs {5/2372 (0.21%) autopsies and 10/216026 (0.0046%) surgical resections}. The male:female ratio was 1:1.14. Gestational age of antenatal cases ranged from 22 to 32 weeks, postnatal ages ranged from 7 days to 15 years (mean 2.9 years). The cases were right-sided (8/15;53.3%), left-sided (4/15;26.7%) and bilateral (3/15,20%). Seven (46.7%), 4 (26.7%),3 (20%) and 1 (6.7%) were types 1, 2, 3 and 4, respectively. None of the surgical cases had postoperative mortality or morbidity. Conclusions: Prompt recognition and surgical resectability resulted in normal growth and symptom free survival in our postnatally diagnosed patients. Mortality in antenatally diagnosed fetuses remains high (5/11;45%).
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Malformación Adenomatoide Quística Congénita del Pulmón/patología , Malformación Adenomatoide Quística Congénita del Pulmón/fisiopatología , Edad Gestacional , Centros de Atención Terciaria/estadística & datos numéricos , Niño , Preescolar , Malformación Adenomatoide Quística Congénita del Pulmón/diagnóstico , Femenino , Humanos , India , Recién Nacido , Masculino , Embarazo , Diagnóstico Prenatal/métodos , Estudios RetrospectivosRESUMEN
AIM OF THE STUDY: Recommendation of early pulmonary resection in asymptomatic congenital pulmonary airway malformations (CPAMs) is based on the presumed compensatory lung growth during the first months of life. Our aim is to analyze the long-term pulmonary function after lobectomy before and after one year of age using spirometry. METHODS: We performed a retrospective review of children who underwent pulmonary lobectomy for CPAM between 2001 and 2016. Patients who were old enough (>5 years) to carry out a spirometry were included in the study and were divided into 2 groups (surgery before or after 12 months of age). Pulmonary function testing values were considered normal if they were >80% of predicted. MAIN RESULTS: Forty-seven patients underwent pulmonary lobectomy for CPAM, 23 of them met the inclusion criteria and prospectively performed a spirometry. Among them, 7 had surgery before and 16 after one year of age (0.1 vs. 2); being both groups comparable in terms of sex, type of CPAM and surgical approach. Time from surgery until pulmonary function testing was longer in patients who had surgery before one year of age (9.1 vs. 4.6 years, p = 0.003). After correcting results by time from surgery until spirometry, a better FEV1/FVC was found in patients who had surgery after one year of age (90% vs. 77%, p = 0.043). CONCLUSION: Although spirometry may be influenced by many other variables, these preliminary results do not support the current recommendation of performing early lobectomy in CPAMs. Further studies are required in order to resolve the best age to perform pulmonary lobectomy.
INTRODUCCION/OBJETIVO: La resección temprana de las malformaciones pulmonares asintomáticas ofrece el beneficio teórico de optimizar el crecimiento pulmonar compensatorio durante la infancia. El objetivo de este estudio es determinar si la lobectomía antes del año de vida se asocia con mejor función pulmonar a largo plazo. MATERIALES Y METODOS: Revisión de pacientes en los que se realizó lobectomía pulmonar desde 2001, incluyendo los que tenían edad suficiente para realizar una espirometría (>5 años). Fueron divididos en dos grupos: lobectomía antes o después de 12 meses de vida. Los parámetros espirométricos se consideraron normales cuando eran mayores del 80% esperado. RESULTADOS: Veintitrés de los 47 pacientes intervenidos cumplieron los criterios de inclusión. Siete fueron intervenidos antes (0,1 ± 0,4 años) y 16 después del año de vida (2 ± 3,6 años), siendo ambos grupos comparables en sexo, tipo de malformación y abordaje quirúrgico. El tiempo de seguimiento desde la cirugía hasta que se realizó la espirometría fue mayor en los pacientes intervenidos antes del año de vida (9,1 vs. 4,6 años, p = 0,003). Tras corregir los resultados por el tiempo de seguimiento, se objetivó un mejor cociente FEV1/FVC en los pacientes intervenidos después del año de vida (90% vs. 77%, p = 0,043). CONCLUSION: Aunque la espirometría puede estar influenciada por otras variables, los datos de nuestro estudio no apoyan la recomendación actual de realizar resección temprana en las malformaciones pulmonares congénitas asintomáticas. Se necesitan estudios prospectivos con mayor número de pacientes para determinar la mejor edad para realizar la lobectomía.
Asunto(s)
Malformación Adenomatoide Quística Congénita del Pulmón/cirugía , Neumonectomía/métodos , Espirometría/métodos , Factores de Edad , Preescolar , Malformación Adenomatoide Quística Congénita del Pulmón/fisiopatología , Femenino , Volumen Espiratorio Forzado , Humanos , Lactante , Masculino , Pruebas de Función Respiratoria , Estudios Retrospectivos , Factores de Tiempo , Capacidad VitalRESUMEN
OBJECTIVE: To assess the effectiveness of laser surgery in fetuses with a cystic lung lesion with systemic arterial blood supply (hybrid lung lesion) at risk of perinatal death. METHODS: A cohort of five consecutive fetuses with a large hybrid lung lesion associated with hydrops and/or pleural effusion with severe lung compression was selected for percutaneous ultrasound-guided fetal laser ablation of the feeding artery (FLAFA) before 32 weeks' gestation in a single tertiary national referral center in Queretaro, Mexico. The primary outcomes were survival and need for postnatal surgery. RESULTS: FLAFA was performed successfully in all cases at a median gestational age of 24.9 (range, 24.4-31.7) weeks. After fetal intervention, dimensions in both lungs increased and fluid effusions resolved in all cases. All cases were delivered liveborn at term at a median gestational age of 39.6 (range, 38.0-39.7) weeks, without respiratory morbidity or need for oxygen support, resulting in perinatal survival of 100%. During follow-up, three (60%) cases showed progressive regression of the entire lung mass and did not require postnatal surgery, whereas in two (40%) cases a progressive decrease in size of the mass was observed but a cystic portion of the lung mass persisted and postnatal lobectomy was required. CONCLUSION: In fetuses with large hybrid lung lesions at risk of perinatal death, FLAFA is feasible and could improve survival and decrease the need for postnatal surgery. Copyright © 2016 ISUOG. Published by John Wiley & Sons Ltd.
Asunto(s)
Malformación Adenomatoide Quística Congénita del Pulmón/cirugía , Enfermedades Fetales/cirugía , Enfermedades Pulmonares/diagnóstico , Arterias/cirugía , Estudios de Cohortes , Malformación Adenomatoide Quística Congénita del Pulmón/complicaciones , Malformación Adenomatoide Quística Congénita del Pulmón/diagnóstico por imagen , Malformación Adenomatoide Quística Congénita del Pulmón/fisiopatología , Femenino , Enfermedades Fetales/diagnóstico por imagen , Enfermedades Fetales/fisiopatología , Terapias Fetales , Edad Gestacional , Humanos , Terapia por Láser , Enfermedades Pulmonares/complicaciones , Enfermedades Pulmonares/congénito , Enfermedades Pulmonares/diagnóstico por imagen , Enfermedades Pulmonares/fisiopatología , Enfermedades Pulmonares/cirugía , México , Embarazo , Estudios Prospectivos , Resultado del Tratamiento , Ultrasonografía Intervencional , Ultrasonografía PrenatalAsunto(s)
Malformación Adenomatoide Quística Congénita del Pulmón/fisiopatología , Feto/anomalías , Feto/irrigación sanguínea , Hidropesía Fetal/fisiopatología , Seno Sagital Superior/fisiopatología , Adulto , Circulación Cerebrovascular , Malformación Adenomatoide Quística Congénita del Pulmón/embriología , Femenino , Humanos , Recién Nacido , Nacimiento Vivo , Masculino , Ilustración Médica , EmbarazoRESUMEN
BACKGROUND: Congenital thoracic malformations (CTM) are rare lung lesions that are managed with surgical resection or active surveillance. The objective of this study was to comprehensively assess large and small airway function in children with CTM who underwent lobectomy in early life. We hypothesise that sensitive measures of lung function will demonstrate residual impairments in CTM compared to healthy children. METHODS: Nitrogen lung clearance index (LCI), reactance and resistance (X5Hz and R5Hz), forced expiratory volume in 1â s and forced vital capacity (FEV1 and FVC) were prospectively measured in 10 children with CTM (mean age/SD: 7.6/1.3) who had undergone surgical resection in early life and in 17 healthy children (mean age/SD: 4.8/0.4). Total lung capacity (TLC) was also conducted in children older than 7 years of age with CTM (n = 8). RESULTS: Mean LCI was 8.0 (95% CI 7.5 to 8.5) in the CTM group and 7.3 (95% CI 7.0 to 7.6) in healthy children (p = 0.016). Mean X5Hz was -0.44kPa/l/s (95% CI -0.58 to -0.31) in the CTM group and -0.31kPa/l/s (95% CI -0.35 to -0.27) in healthy children (p = 0.02). Mean Z score for X5Hz was -2.11 (95% CI -3.59 to -0.63) in the CTM group and -0.11 (95% CI -0.55 to 0.33) in healthy children (p = 0.0008). Mean FEV1 was 1.21 L (95% CI 0.97 to 1.45) in the CTM group and 1.02 L (95% CI 0.90 to 1.15) in healthy children (p = 0.22). Mean % predicted FEV1 was 83% (95% CI 74 to 92) in the CTM group and 97% (95% CI 87 to 107) in healthy children (p < 0.05). Mean % predicted TLC in CTM children was 121.3% (95% CI 88.45 to 154.1). Mean LCI was inversely correlated with height z-scores in the CTM group (rs = -0.88, p = 0.002) but not in healthy children (rs = 0.22, p = 0.4). CONCLUSIONS: Children with CTM have impaired lung function as demonstrated by the significant differences in LCI, reactance and FEV1 but not FVC, resistance and TLC. These findings may be of clinical relevance as ventilation inhomogeneities are closely correlated with somatic growth in this study.
Asunto(s)
Quiste Broncogénico/fisiopatología , Secuestro Broncopulmonar/fisiopatología , Malformación Adenomatoide Quística Congénita del Pulmón/fisiopatología , Pulmón/anomalías , Enfisema Pulmonar/congénito , Ventilación Pulmonar/fisiología , Capacidad Vital/fisiología , Pruebas Respiratorias , Quiste Broncogénico/cirugía , Secuestro Broncopulmonar/cirugía , Estudios de Casos y Controles , Niño , Preescolar , Malformación Adenomatoide Quística Congénita del Pulmón/cirugía , Femenino , Volumen Espiratorio Forzado/fisiología , Humanos , Pulmón/fisiopatología , Pulmón/cirugía , Masculino , Nitrógeno/análisis , Neumonectomía , Enfisema Pulmonar/fisiopatología , Enfisema Pulmonar/cirugía , Pruebas de Función Respiratoria , Capacidad Pulmonar Total/fisiologíaRESUMEN
OBJECTIVE: To evaluate fetal thoracoamniotic shunting for isolated large macrocystic congenital cystic adenomatoid malformations (CCAM) of the lung. METHODS: This was a retrospective study of 11 fetuses with macrocystic CCAM who underwent thoracoamniotic shunting. This procedure was offered if fetal hydrops or signs of evolving hydrops (such as ascites or polyhydramnios) were present, or when there were very large lesions or lesions rapidly increasing in size. If there were multiple large cysts within the lesion, a single shunt was used, aiming to traverse several cysts. RESULTS: Shunts were inserted at a mean gestational age of 24.6 (range, 17-32) weeks. Marked mediastinal shift was present in all cases. Six fetuses were hydropic and, of the remaining five, one had severe polyhydramnios, three had lesions that were rapidly increasing in size and one had a very large lesion at initial presentation. In total, four cases had polyhydramnios. Shunting one cyst always decompressed the entire lesion and hydrops and/or polyhydramnios resolved in all surviving fetuses. One hydropic fetus that underwent the procedure at 17 weeks died 1 day later. The shunt dislodged in one case and the lesion did not re-expand. No mother went into labor or had ruptured membranes before 35.6 weeks. Mean gestational age at delivery was 38.2 weeks (n = 10). All pregnancies were delivered vaginally, with no maternal complications. All newborns had uneventful lobectomies, and pathology confirmed CCAM in all cases. CONCLUSION: Fetal thoracoamniotic shunting for large macrocystic CCAM is associated with favorable outcome in most cases, and should be considered in severe cases even before hydrops develops.
Asunto(s)
Amnios/cirugía , Malformación Adenomatoide Quística Congénita del Pulmón/cirugía , Fetoscopía/métodos , Hidropesía Fetal/cirugía , Polihidramnios/cirugía , Toracostomía/métodos , Adulto , Amnios/fisiopatología , Malformación Adenomatoide Quística Congénita del Pulmón/diagnóstico por imagen , Malformación Adenomatoide Quística Congénita del Pulmón/fisiopatología , Femenino , Edad Gestacional , Humanos , Hidropesía Fetal/diagnóstico por imagen , Recién Nacido , Masculino , Polihidramnios/diagnóstico por imagen , Embarazo , Estudios Retrospectivos , Resultado del Tratamiento , Ultrasonografía Prenatal/métodosRESUMEN
Congenital parenchymal lung malformations have an estimated incidence at 1:25,000-1:35,000 births. We present a case of this rare congenital abnormality in a 38 year-old male, review the current literature with discussion of proposed causes, malignant potential, and management strategies. A 38-year-old white male presented with a 4-day history of chronic stable hemoptysis. Social history was notable for a 50-pack-year active smoking history and remote heavy alcohol consumption. Physical examination was normal. Chest radiograph revealed an ill defined right lower lobe infiltrate. Chest computed tomography demonstrated an irregular, thin-walled, cystic lesion with adjacent nodularity and calcifications. The patient received a right lower lobectomy. Pathologic specimen demonstrated a 10-cm, mostly thin-walled cyst with features suggestive of a congenital cyst adenomatoid malformation and areas of adenocarcinoma (mixed subtype with acinar and bronchioloalveolar patterns). Congenital cyst adenomatoid malformations have recently been renamed as congenital pulmonary airway malformations and are the most common type of congenital parenchymal lung malformations. Individuals typically present with recurrent pulmonary infections, pneumothorax, or hemoptysis. The development is controversial but believed to be a result of arrested development of the fetal bronchial tree during the sixth and seventh week of fetal development. Defects in thyroid transcription factor 1 have also been proposed. With the increasing use and image resolution of ultrasound in modern obstetric practice, congenital pulmonary airway malformations rarely go undetected into adulthood. Management remains controversial; however, most authors agree with early surgical excision.
Asunto(s)
Adenocarcinoma , Malformación Adenomatoide Quística Congénita del Pulmón , Hemoptisis/etiología , Pulmón/anomalías , Neumonectomía/métodos , Adenocarcinoma/complicaciones , Adenocarcinoma/patología , Adenocarcinoma/terapia , Adulto , Malformación Adenomatoide Quística Congénita del Pulmón/complicaciones , Malformación Adenomatoide Quística Congénita del Pulmón/diagnóstico , Malformación Adenomatoide Quística Congénita del Pulmón/fisiopatología , Malformación Adenomatoide Quística Congénita del Pulmón/terapia , Manejo de la Enfermedad , Hemoptisis/fisiopatología , Humanos , Pulmón/diagnóstico por imagen , Pulmón/cirugía , Masculino , Tomografía Computarizada por Rayos X , Resultado del TratamientoRESUMEN
Congenital lung masses (CLM) the rare group of causes of acute respiratory insufficiency (RI) in newborns include congenital airway pulmonary malformation (CAPM), congenital overinflation, bronchopulmonary sequestration, and bronchial atresia. The presenting group consists of 13 newborns who were admitted to the Neonatal Department of Intensive Medicine (NDIM) during January 1st 2015-December 31st 2019 (8 males, 5 females, 2 premature/11 term newborns, spontaneous delivery: 2, caesarean section: 11) with positive prenatal diagnosis of CAPM in all cases. In 2 cases prenatal intervention was performed (drainage of the amniotic fluid, attempt of thoracentesis). Signs of acute RI immediately after delivery were seen in 5 newborns. Postnatal echocardiographic investigation confirmed the presence of increased pulmonary pressure in 8 patients, no patient had congenital heart abnormality. A thorax x-ray was positive also in asymptomatic patients. Computed tomography in patients brought detailed information about the position, size and character of CAPM. Six patients underwent surgery. In 15.4 % right lungs were affected by cystic malformation and in 23 % left lungs were affected. A final diagnosis of CAPM was confirmed in 5 patients using histopathologic examination. Multidisciplinary cooperation during prenatal as well as postnatal period is necessary.
Asunto(s)
Malformación Adenomatoide Quística Congénita del Pulmón/complicaciones , Pulmón/anomalías , Insuficiencia Respiratoria/etiología , Malformación Adenomatoide Quística Congénita del Pulmón/diagnóstico por imagen , Malformación Adenomatoide Quística Congénita del Pulmón/fisiopatología , Malformación Adenomatoide Quística Congénita del Pulmón/cirugía , Femenino , Humanos , Recién Nacido , Pulmón/diagnóstico por imagen , Pulmón/fisiopatología , Pulmón/cirugía , Masculino , Neumonectomía , Insuficiencia Respiratoria/diagnóstico por imagen , Insuficiencia Respiratoria/fisiopatología , Insuficiencia Respiratoria/cirugía , Estudios Retrospectivos , Factores de Riesgo , Tomografía Computarizada por Rayos X , Resultado del TratamientoAsunto(s)
Aneurisma de la Aorta Torácica , Malformación Adenomatoide Quística Congénita del Pulmón , Neumonectomía/métodos , Procedimientos Quirúrgicos Vasculares/métodos , Aneurisma de la Aorta Torácica/diagnóstico , Aneurisma de la Aorta Torácica/fisiopatología , Aneurisma de la Aorta Torácica/cirugía , Malformación Adenomatoide Quística Congénita del Pulmón/diagnóstico , Malformación Adenomatoide Quística Congénita del Pulmón/fisiopatología , Malformación Adenomatoide Quística Congénita del Pulmón/cirugía , Femenino , Humanos , Cuidados Intraoperatorios , Pulmón/anomalías , Pulmón/diagnóstico por imagen , Pulmón/cirugía , Persona de Mediana Edad , Radiografía , Tomografía Computarizada de Emisión/métodos , Resultado del TratamientoRESUMEN
This study aimed to evaluate the prognosis of pulmonary sequestration (PS) by measuring congenital cystic adenomatoid malformation volume ratio (CVR) value in fetal congenital PS. The fetal CVR in 49 cases of fetal PS diagnosed by prenatal ultrasound in Xiangyang No. 1 People's Hospital from March 2010 to June 2017 were measured, and the clinical outcomes were observed. According to the prenatal ultrasound CVR value, 49 fetuses diagnosed with PS were divided into 2 groups: group 1 with CVR≥1.26, and group 2 with CVR<1.26. The incidence rate of fetal edema, respiratory distress symptoms and survival rate were compared between the two groups. The risk factors of the fetal PS were evaluated by single and multiple Logistic regression analysis. The correlation between CVR and fetal prognosis was analyzed. Of the 49 fetuses, there were 34 cases of PS (ILS) type (69.39%, 34/49), 10 cases of PS (ELS) type I (20.41%, 10/49) and 5 cases of PS (ELS) type II (10.20%, 5/49). Forty-six cases (93.88%, 46/49) were born alive, there was 1 case (CVR ≥1.26) (2.04%, 1/49) of induced abortion, and 2 cases (CVR ≥1.26) (4.08%, 2/49) of stillbirths. In group 1 (n=24), 21 cases were born alive, and the incidence rate of newborn respiratory distress and fetal edema was 100% (21/21) and 79.17% (19/24) respectively. In group 2 (n=25), there were 3 cases (12%,3/25) of newborn respiratory distress, 3 cases (12%, 3/25) of fetal edema, and the rate of live birth was 100%. There were statistically significant differences between the two groups in the incidence of fetal edema, postpartum respiratory symptoms and survival rate. CVR was a risk factor for PS and was associated with fetal prognosis. CVR in the midtrimester of pregnancy is an effective index to evaluate the prognosis of fetal PS. CVR ≥1.26 is associated with an increased risk of fetal edema, infant respiratory distress and intrauterine or postnatal death.
Asunto(s)
Secuestro Broncopulmonar/diagnóstico , Malformación Adenomatoide Quística Congénita del Pulmón/diagnóstico por imagen , Feto/diagnóstico por imagen , Pulmón/diagnóstico por imagen , Secuestro Broncopulmonar/diagnóstico por imagen , Secuestro Broncopulmonar/patología , Malformación Adenomatoide Quística Congénita del Pulmón/fisiopatología , Femenino , Feto/fisiopatología , Humanos , Recién Nacido , Nacimiento Vivo , Pulmón/fisiopatología , Embarazo , Pronóstico , Resultado del TratamientoRESUMEN
OBJECTIVE: First report of a term neonate with coexistent congenital cystic adenomatoid malformation (CCAM) of the lung and alveolar capillary dysplasia (ACD). METHODS AND DESIGN: Case report and literature review. Our institutional review board waived the need for consent. SETTING: We describe a term neonate with antenatally diagnosed CCAM and persistent pulmonary hypertension of the newborn (PPHN) who underwent right upper lobe resection on day 9 of life. Histology confirmed CCAM but closer examination also showed ACD. Postoperatively pulmonary hypertension persisted despite high-frequency oscillation and inhaled nitric oxide, and she was placed on extracorporeal membrane oxygenation. Due to the lack of any improvement, intensive care treatment was withdrawn 4 days later. CONCLUSIONS: This is the first description of an association between these two rare malformations. Although a causative link between CCAM and ACD is possible, it is unlikely. ACD should always be considered as a cause of severe PPHN when persistent beyond 10 days, even if another etiology of PPHN is present.
Asunto(s)
Anomalías Múltiples , Capilares/patología , Malformación Adenomatoide Quística Congénita del Pulmón/fisiopatología , Dilatación Patológica/congénito , Alveolos Pulmonares/patología , Malformación Adenomatoide Quística Congénita del Pulmón/diagnóstico por imagen , Malformación Adenomatoide Quística Congénita del Pulmón/cirugía , Dilatación Patológica/diagnóstico , Femenino , Humanos , Recién Nacido , Síndrome de Circulación Fetal Persistente/fisiopatología , Síndrome de Circulación Fetal Persistente/terapia , Radiografía , Resultado del TratamientoRESUMEN
BACKGROUND: Congenital cystic adenomatoid malformation is a rare pulmonary malformation, but is the most common lung malformation observed in children. In developing countries, such as Morocco, prenatal diagnosis is missing. Congenital cystic adenomatoid malformation may occur after birth in the presence of complications and needs a computed tomography scan for confirmation. However, our lack of awareness of this malformation has been responsible for a late and wrong diagnosis along with therapeutic errors. We report the first case in Morocco where diagnosis is confirmed by histology after death. CASE PRESENTATION: A 10-month-old Arab boy was prescribed various antibiotics (including anti-staphylococcal) and endured repeated chest drainages, leading to his death just after radiological diagnosis and instant surgery. CONCLUSIONS: The goal of this case report is to firmly express the need for both pediatricians and radiologists to enlarge diagnosis investigations, especially of congenital or constitutional entities in children, as soon as recurrence of respiratory distress and pulmonary infections are manifested. We also emphasize this important entity because of its frequency, to avoid the eventual therapeutic errors.
Asunto(s)
Antibacterianos/administración & dosificación , Malformación Adenomatoide Quística Congénita del Pulmón/diagnóstico , Hipoxia/mortalidad , Pulmón/patología , Neumonectomía/mortalidad , Complicaciones Posoperatorias/mortalidad , Infecciones del Sistema Respiratorio/patología , Tomografía Computarizada por Rayos X , Malformación Adenomatoide Quística Congénita del Pulmón/fisiopatología , Malformación Adenomatoide Quística Congénita del Pulmón/terapia , Errores Diagnósticos , Resultado Fatal , Humanos , Lactante , Pulmón/diagnóstico por imagen , Masculino , Infecciones del Sistema Respiratorio/diagnóstico por imagen , Infecciones del Sistema Respiratorio/tratamiento farmacológicoRESUMEN
INTRODUCTION: Patients operated on for congenital pulmonary malformations (CPM) have excellent survival rates, but little is known about long-term morbidity. Our aim is to report the sequelae in patients operated on for CPM in infancy and to define factors that may influence their outcome. METHODS: All patients operated on for major congenital anomalies are followed in a dedicated outpatient program and evaluated at 6, 24, and 48 months of life (corrected for gestational age) and at school age at 4, 6, 8, and 12 years of life. The data are prospectively collected. Patients operated on for CPM and enrolled in the follow-up clinic between January 2004 and December 2010 are compared with a control group of term infants operated on for inguinal hernia, without other major congenital or acquired abnormalities. The two groups were compared for auxological, respiratory, and orthopedic outcome. RESULTS: In the study period, 76 consecutive patients with CPM attended our dedicated follow-up clinic. Eight non-operated patients were excluded from the study. Age at follow-up was 82.0 (56.1-103.7) months in CPM patients and 83.5 (75.2-90.4) months in controls (P = 0.79). Fifty-three patients with CPM (78%) had one or more clinical or radiological abnormality versus six (16%) control patients (OR [95%CI] 16.5 [5.8-47.2]; P < 0.0001). CONCLUSIONS: Over 50% of patients with CPM present long-term sequelae, regardless type of malformation. Therefore, long-term follow-up of patients operated on for CPM is recommended. Further studies are needed to define if, in asymptomatic patients, surgery may modify the natural history of CPM. Pediatr Pulmonol. 2016;51:1367-1372. © 2016 Wiley Periodicals, Inc.
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Pulmón/cirugía , Neumonectomía/métodos , Anomalías del Sistema Respiratorio/cirugía , Corticoesteroides/uso terapéutico , Broncodilatadores/uso terapéutico , Secuestro Broncopulmonar/fisiopatología , Secuestro Broncopulmonar/cirugía , Estudios de Casos y Controles , Niño , Preescolar , Malformación Adenomatoide Quística Congénita del Pulmón/fisiopatología , Malformación Adenomatoide Quística Congénita del Pulmón/cirugía , Femenino , Estudios de Seguimiento , Edad Gestacional , Humanos , Lactante , Recién Nacido , Pulmón/anomalías , Masculino , Oportunidad Relativa , Enfisema Pulmonar/congénito , Enfisema Pulmonar/fisiopatología , Enfisema Pulmonar/cirugía , Ruidos Respiratorios , Anomalías del Sistema Respiratorio/fisiopatología , Infecciones del Sistema Respiratorio/epidemiología , Procedimientos Quirúrgicos Torácicos/métodos , Pared Torácica/anomalías , Resultado del TratamientoRESUMEN
Congenital pulmonary airway malformation (CPAM) is a rare congenital abnormality with unknown exact aetiology or clear genetic association. It is characterised by a failure of bronchial development and localised glandular overgrowth. Typically, it is diagnosed on prenatal ultrasound, only infrequently in children, and even less commonly in adults. We present a case of a 25-year-old man, with no previous lung diseases who presented with right-sided chest pain, fever and cough suggestive of pulmonary infection. Chest imaging, including CT scan, showed a large focal cystic mass within the right lower lobe along with ground glass opacities suggestive of CPAM. He was started on intravenous antibiotics. Bronchoscopy showed a large amount of pus in the right lung and bronchoalveolar lavage confirmed the microbiological diagnosis of methicillin-resistant Staphylococcus aureus. He improved with antibiotic treatment. He was discharged with 6-week course of antibiotics and follow-up afterward.
Asunto(s)
Broncoscopía/métodos , Clindamicina/administración & dosificación , Malformación Adenomatoide Quística Congénita del Pulmón , Pulmón , Staphylococcus aureus Resistente a Meticilina , Neumonía Estafilocócica , Vancomicina , Adulto , Antibacterianos/administración & dosificación , Antibacterianos/efectos adversos , Lavado Broncoalveolar/métodos , Malformación Adenomatoide Quística Congénita del Pulmón/complicaciones , Malformación Adenomatoide Quística Congénita del Pulmón/diagnóstico , Malformación Adenomatoide Quística Congénita del Pulmón/fisiopatología , Malformación Adenomatoide Quística Congénita del Pulmón/terapia , Sustitución de Medicamentos/métodos , Humanos , Pulmón/anomalías , Pulmón/diagnóstico por imagen , Pulmón/microbiología , Masculino , Staphylococcus aureus Resistente a Meticilina/efectos de los fármacos , Staphylococcus aureus Resistente a Meticilina/aislamiento & purificación , Neumonía Estafilocócica/diagnóstico , Neumonía Estafilocócica/tratamiento farmacológico , Neumonía Estafilocócica/etiología , Neumonía Estafilocócica/fisiopatología , Enfermedades Raras , Tomografía Computarizada por Rayos X/métodos , Resultado del Tratamiento , Vancomicina/administración & dosificación , Vancomicina/efectos adversosRESUMEN
OBJECTIVE: Congenital cystic lung lesions associated with fetal hydrops and polyhydramnios are rare, and reported to have greater than 50% mortality, can this be reversed? To propose a period of pulmonary stabilisation and delayed surgery for neonates with congenital cystic lung lesions and pulmonary hypertension. RESULTS: Four neonates with antenatal diagnosed congenital cystic lung lesions with associated fetal hydrops and maternal polyhydramnios, presented with pulmonary hypertension due to lung hypoplasia. Contrast spiral computerised tomography scan was diagnostic. Three had congenital cystic adenomatoid malformation and one extra-lobar pulmonary sequestration with anomalous blood supply from the abdominal aorta. All four were pre-operatively ventilated for 9.8+/-0.9 days on conventional mechanical ventilators. Definitive surgery was performed at 10.8+/-0.8 days following stabilisation of lung function (preductal PO(2) of greater than 60torr with a SaO(2) of 90-100%) and resolution of pulmonary hypertension with absence of persistent fetal circulation on echocardiography. Optimal timing of delayed surgery was in the range of 216-360h. All four are thriving with absent respiratory complications. CONCLUSION: Delayed surgery following pulmonary stabilisation results in favourable outcome.
Asunto(s)
Malformación Adenomatoide Quística Congénita del Pulmón/cirugía , Hipertensión Pulmonar/etiología , Respiración Artificial/métodos , Malformación Adenomatoide Quística Congénita del Pulmón/complicaciones , Malformación Adenomatoide Quística Congénita del Pulmón/diagnóstico por imagen , Malformación Adenomatoide Quística Congénita del Pulmón/fisiopatología , Femenino , Humanos , Hidropesía Fetal/fisiopatología , Hipertensión Pulmonar/cirugía , Recién Nacido , Pulmón/anomalías , Pulmón/diagnóstico por imagen , Pulmón/fisiopatología , Masculino , Polihidramnios/fisiopatología , Atención Posnatal/métodos , Embarazo , Diagnóstico Prenatal , Procedimientos Quirúrgicos Torácicos/métodos , Tomografía Computarizada Espiral/métodos , Resultado del TratamientoRESUMEN
Hydrops fetalis, a condition characterized by abnormal accumulation of fluid and edema in the fetus, is the final common pathway in a number of pathological conditions. The diagnosis of hydrops is based on ultrasonographic findings of generalized edema along with a serous effusion (ascites, pleural effusion, or pericardial effusion). Polyhydramnios and placentomegaly may also be present. Historically, hydrops fetalis has been described in cases of Rh alloimmunization and severe erythroblastosis (immune hydrops). Hydrops is considered "nonimmune" if there is no evidence of fetal-maternal blood group incompatibility. Over the past few decades, nonimmune hydrops has been recognized more frequently. In a number of series, 80% to 90% of hydropic fetuses were considered nonimmune. Incidence ranges from 1 in 1,500 to 1 in 3,800 births. Etiology is diverse and associated conditions include cardiovascular malformations, chromosomal abnormalities, thoracic lesions, infections, metabolic disorders, fetal anemia and twinning. Overall prognosis is poor, with mortality between 50% and 98%. Advances in obstetric ultrasound and prenatal diagnosis have made it possible to diagnose a number of congenital anomalies early in gestation. In some cases, anatomic anomalies diagnosed in utero progress to nonimmune hydrops and almost certain fetal demise. It is these conditions that can be considered for fetal surgical intervention. This article reviews the pathophysiology and rationale behind surgical correction of two conditions that lead to hydrops: fetal thoracic lesions (congenital cystic adenomatoid malformation, pulmonary sequestration, and fetal pleural effusions) and sacrococcygeal teratoma (SCT).
Asunto(s)
Secuestro Broncopulmonar/cirugía , Malformación Adenomatoide Quística Congénita del Pulmón/cirugía , Hidropesía Fetal/prevención & control , Derrame Pleural/cirugía , Teratoma/cirugía , Secuestro Broncopulmonar/diagnóstico , Secuestro Broncopulmonar/fisiopatología , Malformación Adenomatoide Quística Congénita del Pulmón/diagnóstico , Malformación Adenomatoide Quística Congénita del Pulmón/fisiopatología , Humanos , Derrame Pleural/diagnóstico , Derrame Pleural/fisiopatología , Diagnóstico Prenatal , Región Sacrococcígea , Teratoma/diagnóstico , Teratoma/fisiopatologíaRESUMEN
In patients with yellow nail syndrome (YNS), highly characteristic nail changes are often associated with lymphedema and respiratory disorders due to pleural effusions or bronchiectasis. We describe a 4-year-old girl with the YNS who also had cystic lesions of the lung, affecting first the left lower lobe and, after surgical resection of the involved segments, also the right lower lobe. We discuss the etiology of the pulmonary cysts and hypothesize that abnormalities in pulmonary lymphatic flow, characteristic of YNS, may have decreased lung tissue compliance and determined the unusual progression of the cystic lesions in this patient.
Asunto(s)
Malformación Adenomatoide Quística Congénita del Pulmón/complicaciones , Enfermedades de la Uña/complicaciones , Preescolar , Color , Malformación Adenomatoide Quística Congénita del Pulmón/diagnóstico por imagen , Malformación Adenomatoide Quística Congénita del Pulmón/fisiopatología , Malformación Adenomatoide Quística Congénita del Pulmón/cirugía , Progresión de la Enfermedad , Femenino , Humanos , Sistema Linfático/fisiopatología , Enfermedades de la Uña/fisiopatología , Radiografía , SíndromeRESUMEN
This report describes a newborn with respiratory distress, waxing and waning left lung hyperinflation, and pulmonary hemorrhage. This atypical presentation of congenital cystic adenomatoid malformation of the lung has not been previously reported, posed a major diagnostic problem, and delayed potentially lifesaving surgery.
Asunto(s)
Malformación Adenomatoide Quística Congénita del Pulmón/diagnóstico , Enfermedades del Prematuro/diagnóstico , Pulmón/fisiopatología , Malformación Adenomatoide Quística Congénita del Pulmón/complicaciones , Malformación Adenomatoide Quística Congénita del Pulmón/fisiopatología , Errores Diagnósticos , Hemorragia/etiología , Humanos , Recién Nacido , Enfermedades del Prematuro/fisiopatología , Pulmón/diagnóstico por imagen , Pulmón/patología , Enfermedades Pulmonares/etiología , Masculino , RadiografíaRESUMEN
The authors report a case of congenital cystic adenomatoid malformation of the lung (CCAM) with extramedullary hematopoiesis (EMH). A baby girl suffered from Rh incompatibility and hemolytic anemia. She exhibited respiratory distress. Chest radiography and magnetic resonance imaging findings showed a CCAM. A resection of the upper and middle lobes of the right lung was performed. Histological examination showed a CCAM of Stocker's type II with EMH. EMH in the lung is very rare. The authors speculate that the cause of our case originated from Rh incompatibility and development arrest in the CCAM lung.