Malformación congénita de la vía aérea pulmonar: a propósito de un caso clínico / Congenital pulmonary airway malformation: a clinical case study / Malformação congênita das vias aéreas pulmonares: relato de caso

La malformación congénita de la vía aérea pulmonar (MVAP), antes llamada malformación adenomatoidea quística pulmonar, es una rara anormalidad del desarrollo de las vías respiratorias terminales. Las lesiones son de distribución y tamaños variables, usualmente unilaterales. El diagnóstico puede realizarse desde el período prenatal mediante ecografía gestacional, encontrándose, en ocasiones, graves repercusiones fetales. En los recién nacidos la enfermedad puede manifestarse con dificultad respiratoria aguda. En niños y adultos puede diagnosticarse ante infecciones pulmonares recurrentes u otras complicaciones. En pacientes sintomáticos está indicado el tratamiento quirúrgico para prevenir infecciones y la transformación neoplásica; sin embargo, sigue siendo controversial el tratamiento profiláctico frente al tratamiento expectante en pacientes asintomáticos. Se presenta el caso clínico de una lactante de 2 meses, que en el curso de una bronquiolitis se realizó una radiografía de tórax que evidenció una imagen radiolúcida del lóbulo medio. La tomografía computada visualizó gran imagen quística en pulmón derecho, que podría corresponder a una MVAP. Se decidió tratamiento quirúrgico coordinado. Se realizó una segmentectomía, confirmándose con anatomía patológica una MVAP tipo IV. Evolucionó favorablemente.

Congenital pulmonary airway malformation (CPAM), formerly called pulmonary cystic adenomatoid malformation, is a rare developmental abnormality of the terminal airways. Lesions are of variable size and distribution, usually unilateral. The diagnosis can be made from the prenatal period by means of gestational ultrasound, occasionally causing serious fetal repercussions. In newborns, the disease may manifest itself through acute respiratory distress. In children and adults it can be diagnosed through recurrent lung infections or other complications. In symptomatic patients, surgical treatment is indicated to prevent infections and neoplastic transformation. However, prophylactic versus expectant management in asymptomatic patients remains controversial. We present the clinical case of a 2-month-old infant who, during the course of bronchiolitis underwent a chest X-ray that revealed a radiolucent image of the middle lobe. The computed tomography scan showed a large cystic image in the right lung, which could be linked to an CPAM. The surgical treatment was carried out and the segmentectomy confirmed a pathological type IV CPAM. The patient evolved favorably.

A malformação congênita das vias aéreas pulmonares (MVAP), anteriormente chamada de malformação adenomatoide cística pulmonar, é uma anormalidade rara do desenvolvimento das vias aéreas terminais. As lesões são de tamanho e distribuição variáveis, geralmente unilaterais. O diagnóstico pode ser feito desde o pré-natal por meio da ultrassonografia gestacional, podendo encontrar repercussões fetais graves. Em recém-nascidos, a doença pode se manifestar com dificuldade respiratória aguda. Em crianças e adultos, pode ser diagnosticada com infecções pulmonares recorrentes ou outras complicações. Em pacientes sintomáticos, o tratamento cirúrgico é indicado para prevenir infecções e transformações neoplásicas; no entanto, o tratamento profilático versus expectante em pacientes assintomáticos permanece controverso. Apresentamos o caso clínico de uma criança de 2 meses que foi submetida a radiografia de tórax durante bronquiolite, que revelou imagem radiotransparente do lobo médio. A tomografia computadorizada mostrou grande imagem cística em pulmão direito, que poderia corresponder a uma MVAP. O tratamento cirúrgico foi realizado e a segmentectomia confirmou um tipo IV de MVAP com patologia. A criança evoluiu favoravelmente.

Case of mucinous adenocarcinoma of the lung associated with congenital pulmonary airway malformation in a neonate / 소아과

Congenital pulmonary airway malformation (CPAM), previously known as congenital cystic adenomatoid malformation, is a rare developmental lung abnormality associated with rhabdomyosarcoma, pleuropulmonary blastoma, and mucinous adenocarcinoma of the lung. We report an unusual case of a 10-day-old male newborn with a left lower lobe pulmonary cyst who underwent lobectomy, which revealed type II CPAM complicated by multifocal mucinous adenocarcinoma. KRAS sequencing revealed a somatic mutation in Codon12 (GGT → GAT), suggesting the development of a mucinous adenocarcinoma in the background of mucinous metaplasia. Mucinous adenocarcinoma is the most common lung tumor associated with CPAM, but it generally occurs in older children and adults. Further, all cases in the literature are of type I CPAM. This case in a neonate indicates that malignant transformation can occur very early in type II CPAM.

Minimally invasive surgery for congenital cystic adenomatoid malformations - early experience

PURPOSE: The aim of this study is to present our experience with minimally invasive surgery (MIS) for congenital cystic adenomatoid malformations (CCAMs). METHODS: The medical records of infants under 2 years of age who underwent operation for a CCAM from 2009 to 2014 were retrospectively reviewed. RESULTS: MIS (9 of thoracoscopy and 1 of laparoscopy) was performed for 10 infants (male:female = 7:3) with CCAM. CCAM were discovered prenatally around gestational age of 24.7 weeks. The median gestational age was 38.6 weeks, and the median body weight was 2,817.5 g. None had respiratory distress after birth. The median age at the time of operation was 0.94 years (range: 8 days-1.66 years). Two underwent the operation during the neonatal period; one because of a coexisting large esophageal duplication cyst and the other due to diagnostic uncertainty. While awaiting operation, 5 of CCAM had grown without respiratory symptoms, and 2 infants had experienced pneumonia. The mean operative time was 98 minutes (range: 70-227 minutes), and there were no conversions or perioperative complications. The infants resumed enteral feeding within 2 days and were discharged within 7 days, except for 1 infant who underwent esophageal duplication cyst excision. During the follow-up period, there were no cases of either remnant lesions or respiratory symptoms. CONCLUSION: MIS for CCAMs is safe and feasible, with excellent cosmesis and short hospital stays. Increasing experience with various MIS procedures will widen the indications for MIS in lung pathology.

Malformaciones pulmonares congénitas / Congenital lung malformations

Congenital lung malformations (CLM) comprise a heterogeneous group of lung diseases. They vary widely in their clinical presentation and severity, depending on the degree of lung involvement and their location in the thoracic cavity. They can manifest at any age and can be the source of significant morbidity and mortality in infants and children. Patients with CLM can present respiratory symptoms at birth or can remain asymptomatic for long periods. There has been an increase in early diagnosis of CLM attributable to the routine use of prenatal ultrasound. Management of these lesions depends on the type of malformation and symptoms. Treatment of asymptomatic patients is controversial, because the prognosis of these diseases is unpredictable. Because of the risk of complications, most authors recommend resection of the lesion at the time of diagnosis. This review describes the principal CLM, their diagnosis, and the controversies regarding treatment.

Las malformaciones pulmonares congénitas (MPC) constituyen un grupo heterogéneo de enfermedades. Varían en su presentación clínica y gravedad en función al grado de afectación pulmonar y a su ubicación en tórax. Se pueden manifestar a cualquier edad y pueden condicionar morbilidad y mortalidad significativa en lactantes y niños. Los pacientes pueden presentar síntomas respiratorios desde el nacimiento o permanecer asintomáticos durante largos períodos. Se ha observado un aumento en el diagnóstico precoz de las MPC atribuible al uso rutinario de la ecografía prenatal. El manejo de estas lesiones depende del tipo de malformación y de los síntomas. El tratamiento de pacientes asintomáticos es controvertido debido a que el pronóstico de estas enfermedades es desconocido. La mayoría de los autores recomiendan la resección de la lesión en el momento del diagnóstico debido al riesgo de complicaciones. Esta revisión describe las principales malformaciones congénitas del pulmón, su diagnóstico y las estrategias de tratamiento.

Intrauterine therapy for macrocystic congenital cystic adenomatoid malformation of the lung

OBJECTIVE: To report on our experiences with thoracoamniotic shunting and/or the injection of a sclerosing agent (OK-432) to treat fetuses diagnosed with macrocystic congenital cystic adenomatoid malformation (CCAM) of the lung. METHODS: A retrospective study was undertaken in six fetuses with macrocystic CCAM at our institute that had been confirmed by postnatal surgery between August 1999 and January 2012. RESULTS: Six fetuses that had been diagnosed with macrocystic CCAM were analyzed. The median gestational age at diagnosis was 23.5 weeks (range, 19.5-31.0 weeks), and at the time of primary treatment was 24.0 weeks (range, 20.5-31.0 weeks). The mean size of the largest cyst at the initial assessment was 42.5+/-15 mm. Four fetuses were associated with mediastinal shifting, and one also showed fetal hydrops. All fetuses underwent a shunting procedure within the cysts, one case among them was also treated with OK-432. After the completion of all procedures, the mean size of the largest cyst was all decreased (14.2+/-12 mm). The median gestational age at delivery was 38.0 weeks (range, 32.4-40.3 weeks). All of the newborns underwent the surgical resection at a median age of 6 days (range, 1-136 days) and are currently doing well without any complications. CONCLUSION: We suggest that intrauterine decompression therapy to manage fetal macrocystic CCAM is recommendable treatment for good perinatal outcome.

Neumotórax hipertensivo como forma de presentación de una malformación adenomatoidea quística pulmonar / Tension pneumothorax as a presentation of congenital cystic adenomatoid malformation of the lung

El propósito de este trabajo es examinar el caso de un paciente con una forma de presentación no habitual y grave de una patología poco frecuente, como la malformación adenomatoidea quística pulmonar. Se trata de un lactante de 50 días de vida que ingresó en la unidad de cuidados intensivos pediátricos con insuficiencia respiratoria y colapso circulatorio refractario a la expansión de volumen y los inotrópicos. La radiografía de tórax mostró una imagen radiolúcida, homogénea, en la base pulmonar derecha, que parecía corresponder a una lesión bullosa en el lóbulo inferior derecho, asociada a neumotórax homolateral. Se realizó drenaje con colocación de un tubo de avenamiento pleural y se observó una mejoría clínica posterior. Se efectuó la resección del quiste mediante lobectomía inferior derecha; el diagnóstico histopatológico fue malformación adenomatoidea quística de la vía aérea de tipo 4 (clasificación de Stocker). El paciente evolucionó favorablemente.

The purpose of this paper is to examine the case of a 50-day-old patient with an unusual and severe presentation of a rare disease: congenital cystic adenomatoid malformation of the lung. The infant was admitted to the pediatric intensive care unit with respiratory failure and circulatory collapse refractory to intravenous fluids and inotropic drugs. Chest X-ray showed a radiolucent homogeneous image in the right lung base, suggesting bullous lesion of the right lower lobe associated with ipsilateral pneumothorax. Drainage was performed by placing a chest tube with subsequent clinical improvement. Later the cyst was resected by right lower lobectomy; the histopathological diagnosis was congenital cystic adenomatoid malformation type 4 (Stocker classification). The patient evolved favorably.

Pregnancy outcomes of antenatally diagnosed congenital cystic adenomatoid malformation of lung / 대한산부인과학회지

OBJECTIVE: To determine the accuracy of antenatal diagnosis, pregnancy outcome and the predictors for adverse outcome in antenatally diagnosed congenital cystic adenomatoid malformation (CCAM). METHODS: A retrospective review was performed on a total of 32 patients with antenatally diagnosed CCAM between January, 1999 and June, 2008. RESULTS: Of 32 cases with antenatally diagnosed CCAM, 8 patients were lost to follow-up. In remaining 24 patients, postnatal histologic examination and/or radiologic study showed definitive diagnostic features of CCAM (n=20), pulmonary sequestration (n=3) and congenital lobar emphysema (n=1). The accuracy of antenatal diagnosis was 83.3% (20/24). The rate of presence of hydrops and/or ascites was 10% (2/20) in those with CCAM confirmed postnatally. Of the 2 patients with ascites and/or hydrops, thoraco-amniotic (TA) shunt was performed in one case with hydrops and termination was done in the other case. All of the 15 cases with ongoing pregnancy were delivered at term, except one with TA-shunt who was born at 33(+3) weeks of gestation (mean gestational age at birth+/-standard deviation; 39.6+/-2.2 weeks, mean birth weight; 3,200+/-500 gram). All 15 neonates were discharged alive without any complication. Antenatal sonographic microcystic lesion was associated with postnatal histologic type III lesion [5 type III lesions in 7 microcystitc cases (71.4%) vs. no type III lesion in 13 macrocystic cases (0%), P<0.01]. CONCLUSION: The incidence of ascites and/or hydrops was 10% (2/20) in fetuses with CCAM. Antenatally diagnosed CCAM has an excellent prognosis in the absence of signs of ascites and/or hydrops.