scholarly journals A Case of Fatal Pulmonary Hypoplasia with Congenital Diaphragmatic Hernia, Thoracic Myelomeningocele, and Thoracic Dysplasia

2017 ◽  
Vol 07 (04) ◽  
pp. e234-e237
Author(s):  
Ai Ito ◽  
Hideshi Fujinaga ◽  
Sachiko Matsui ◽  
Kumiko Tago ◽  
Yuka Iwasaki ◽  
...  

Background Congenital diaphragmatic hernia (CDH) is fatal in severe cases of pulmonary hypoplasia. We experienced a fatal case of pulmonary hypoplasia due to CDH, thoracic myelomeningocele (MMC), and thoracic dysplasia. This constellation of anomalies has not been previously reported. Case Report A male infant with a prenatal diagnosis of thoracic MMC with severe hydrocephalus and scoliosis was born at 36 weeks of gestation. CDH was found after birth and the patient died of respiratory failure due to pulmonary hypoplasia and persistent pulmonary hypertension of the newborn at 30 hours of age despite neonatal intensive care. An autopsy revealed a left CDH without herniation of the liver or stomach into the thoracic cavity, severe hydrocephalus, Chiari malformation type II, MMC with spina bifida from Th4 to Th12, hemivertebrae, fused ribs, deformities of the thoracic cage and legs, short trunk, and agenesis of the left kidney. Conclusion We speculate that two factors may be associated with the severe pulmonary hypoplasia: decreased thoracic space due to the herniation of visceral organs caused by CDH and thoracic dysplasia due to skeletal deformity and severe scoliosis.

Open Medicine ◽  
2013 ◽  
Vol 8 (3) ◽  
pp. 358-361
Author(s):  
Kyoung Han ◽  
Kwang Kim ◽  
Jee Chang ◽  
Young Kim

AbstractCongenital diaphragmatic hernia (CDH) is a rare and severe disorder with a high mortality rate among infants. Unilateral renal agenesis (URA) is a relatively common congenital urinary malformation. Here, we present the case of a newborn infant with left CDH associated with ipsilateral renal agenesis. The male patient was born weighing 3.850 g through normal spontaneous vaginal delivery at 38 weeks and 6 days of gestational age at a maternity hospital. He was transferred to our neonatal intensive care unit due to respiratory distress with tachypnea, grunting and cyanosis after birth. A chest radiography indicated parts of the bowel in the thoracic cavity, consistent with CDH. Renal ultrasonography indicated no kidney structure on the left side and a 5.6 cm right kidney with normal echogenicity. Repair of the diaphragmatic hernia was performed three days after birth. Most of the colon, small bowel, stomach and spleen were located in the left pleural cavity, but the left kidney was not seen. Subsequent dimercaptosuccinic acid scintigraphy indicated non-visualized functional cortical uptake in the left kidney on day 13 after birth. Thus, we report the successful treatment of a patient with CDH accompanied by URA.


2021 ◽  
Vol 14 (7) ◽  
pp. e239181
Author(s):  
Kevin C McGann ◽  
Marjorie J Arca ◽  
Marsha Pulhamus ◽  
Michael H Livingston

A term male infant was born to a healthy 24-year-old mother with antenatally diagnosed liver-up, left congenital diaphragmatic hernia (CDH) and gastroschisis. The infant was stabilised in the neonatal intensive care unit and then underwent primary repair of the CDH via left subcostal incision and silo placement for the gastroschisis. Serial silo reductions were started postoperatively and umbilical flap closure for the gastroschisis was performed on day of life 6. The patient was weaned from respiratory support, started on enteral feeds, and discharged home at 1 month of age. He was weaned from supplemental nasogastric feeds by 6 weeks of age and is currently well and thriving at 11 months of age.


1970 ◽  
Vol 3 (1) ◽  
pp. 27-34
Author(s):  
Lucas Tavares Dos Santos ◽  
Tânia Massini Evangelista

Introdução: A hérnia diafragmática congênita é a falha do fechamento embrionário do músculo diafragmático, resultando em um defeito de continuidade. Esta patologia pode ocorrer pela passagem de estruturas do abdome através de um defeito no diafragma, ou haver herniação parcial do estômago através do hiato esofágico, paralisia frênica com deslocamento do conteúdo abdominal para cima, mas sem herniação, e, eventração do diafragma. Casuística: Foi relatado um caso de hérnia diafragmática congênita, hérnia de Bochdalek, em um recém – nascido do sexo feminino, que nos ultra-sonografias da gestante apresentavam sem alterações. O diagnóstico da patologia foi feito apenas após a realização de raios-X de tórax e abdome para confirmar a posição do cateterismo umbilical venoso. Discussão/Conclusão: A apresentação clínica da hérnia de diafragmática congênita inclui desconforto respiratório moderado a grave com repercussão sistêmica. O diagnóstico, em cerca de 80% dos casos, é feito por ultrassom pré-natal. O tratamento proposto foi intubação endotraqueal com ventilação mecânica e programação para correção cirúrgica da hérnia. Após correção cirúrgica da patologia, a paciente permaneceu na unidade de terapia intensiva neonatal por 21 dias para acompanhamento de pós – operatório e intercorrências na evolução. Palavras-chave: hérnia diafragmática congênita, recém-nascido, hérnia de BochdalekABSTRACTIntroduction: Congenital diaphragmatic hernia is the failure of embryonic closure of the diaphragm, resulting in a lack of continuity. This condition can occur by passing structures of the abdomen through a defect in the diaphragm, or be part herniation of the stomach through the esophageal hiatus, phrenic paralysis with displacement of abdominal contents up but no herniation, and eventration of the diaphragm. Case Report: We report a case congenital diaphragmatic hernia, such as Bochdalek hernia, in a new - born female that in ultrasounds of pregnant women showed without change. The diagnosis of the disease was made only after conducting X-ray of the chest and abdomen to confirm the position of umbilical venous catheterization. Discussion/Conclusion: Clinical presentation of congenital diaphragmatic hernia includes moderate to severe respiratory distress with systemic repercussions. The diagnosis in about 80% of the cases is done by ultrasound prenatally. The proposed treatment was endotracheal intubation with mechanical ventilation and programming for surgical correction of the hernia. After surgical pathology, the patient remained in neonatal intensive care unit for 21 days to monitor post - operative complications and evolution.  Keywords: congenital diaphragmatic hernia, newborn, Bochdalek hernia 


2017 ◽  
Vol 33 (3) ◽  
pp. 524-532 ◽  
Author(s):  
Elizabeth B. Froh ◽  
Janet A. Deatrick ◽  
Martha A. Q. Curley ◽  
Diane L. Spatz

Background: Very little is known about the breastfeeding experience of mothers of infants born with congenital anomalies and cared for in the neonatal intensive care unit (NICU). Often, studies related to breastfeeding and lactation in the NICU setting are focused on the mothers of late preterm, preterm, low-birth-weight, and very-low-birth-weight infants. Congenital diaphragmatic hernia (CDH) is an anatomic malformation of the diaphragm and affects 1 in every 2,000 to 4,000 live births. Currently, there are no studies examining the health outcomes of infants with CDH and the effect of human milk. Research aim: This study aimed to describe the breastfeeding experience of mothers of infants with CDH cared for in the NICU. Methods: A prospective, longitudinal qualitative descriptive design was used. Phased interviews were conducted with a purposive sample of 11 CDH infant–mother dyads from a level 3 NICU in a children’s hospital. Results: Six themes emerged from the data: (a) hopeful for breastfeeding, (b) latching on . . . to the pump, (c) we’ve already worked so hard, (d) getting the hang of it—it’s getting easier, (e) a good safety net, and (f) finding a way that works for us. Conclusion: For this population of CDH infant–mother dyads, the term breastfeeding is not exclusive to direct feeding at the breast and the mothers emphasized the significance of providing their own mother’s milk through a combination of feeding mechanisms to their infants with CDH.


1983 ◽  
Vol 4 (8) ◽  
pp. 244-266

In spite of the availability of almost immediate surgery and neonatal intensive care, congenital diaphragmatic hernia is a life-threatening anomaly in the newborn. It is the result of early embryologic malformation or failure of fusion of the components of the diaphragm allowing for the displacement of the abdominal contents into the thoracic cavity. There is consequent compression of the lung which may result in pulmonary hypoplasia or compression of the cardiovascular structures resulting in deleterious hemodynamic changes. Hypoxia and acidosis result in the presentation of respiratory distress and cyanosis. This is frequently associated with pulmonary arterial hypertension with right to left shunting through fetal circuits.


1970 ◽  
Vol 7 (1) ◽  
pp. 28-30 ◽  
Author(s):  
SE Khan ◽  
AKMZ Siddiq ◽  
M Nessa

Introduction: Congenital diaphragmatic hernia (CDH) is one of the major surgical causes of respiratory distress in neonates. Reported survival averages 60% but may be significantly lower. Pulmonary hypertension and pulmonary hypoplasia are recognised as two corner stones of the pathophysiology of CDH. Objective: Objective of the study was to evaluate the outcome of this birth defect in Bangladesh situation. Method: This retrospective study was carried out at the Department of Paediatric Surgery of Combined Military Hospital, Dhaka over a period of five years. During this period a total of 8 neonates of CDH were admitted in this hospital. All the data were collected from record sheet and were compiled. Result: Age of patients ranged from 1 day to 20 days. Out of 8 neonates 5 (62.50%) were male and 3 (37.50%) were female. All patients were diagnosed postnatally. All the 8 neonates had Bochdalek type of CDH. Seven patients (87.50%) had left sided hernia. Two patients (25%) died before operation in the stabilization phase while on ventilator and 6 (75%) were operated. Out of these 6 patients, 5 (left sided) were operated through abdominal route and 1 (right sided) was approached through thorax. Overall outcome was satisfactory in 5 neonates and one died. Conclusion: Early intervention can result good prognosis in CDH. Key words: Congenital diaphragmatic hernia; neonate; Bochdalek type DOI: http://dx.doi.org/10.3329/jafmc.v7i1.8623 JAFMC Bangladesh. Vol 7, No 1 (June) 2011; 28-30  


2022 ◽  
Author(s):  
Kasra Khalaj ◽  
Rebeca Lopes Figueira ◽  
Lina Antounians ◽  
Sree Gandhi ◽  
Matthew Wales ◽  
...  

Pulmonary hypoplasia secondary to congenital diaphragmatic hernia (CDH) is characterized by impaired branching morphogenesis and differentiation. We have previously demonstrated that administration of extracellular vesicles derived from rat amniotic fluid stem cells (AFSC-EVs) rescues development of hypoplastic lungs at the pseudoglandular and alveolar stages in rodent models of CDH. Herein, we tested whether AFSC-EVs exert their regenerative effects at the canalicular and saccular stages, as these are translationally relevant for clinical intervention. To induce fetal pulmonary hypoplasia, we gavaged rat dams with nitrofen at embryonic day 9.5 and demonstrated that nitrofen-exposed lungs had impaired branching morphogenesis, dysregulated signaling pathways relevant to lung development (FGF10/FGFR2, ROBO/SLIT, Ephrin, Neuropilin 1, beta-catenin) and impaired epithelial and mesenchymal cell marker expression at both stages. AFSC-EVs administered to nitrofen-exposed lung explants rescued airspace density and increased the expression levels of key factors responsible for branching morphogenesis. Moreover, AFSC-EVs rescued the expression of alveolar type 1 and 2 cell markers at both canalicular and saccular stages, and restored markers of club, ciliated epithelial, and pulmonary neuroendocrine cells at the saccular stage. AFSC-EV treated lungs also had restored markers of lipofibroblasts and PDGFRA+ cells to control levels at both stages. EV tracking showed uptake of AFSC-EV RNA cargo throughout the fetal lung and an mRNA-miRNA network analysis identified that several miRNAs responsible for regulating lung development processes were contained in the AFSC-EV cargo. These findings suggest that AFSC-EV based therapies hold potential for restoring fetal lung growth and maturation in babies with pulmonary hypoplasia secondary to CDH.


2019 ◽  
Author(s):  
Karen M. Davidson

The normal and abnormal development of the organs lying within the fetal thorax is discussed.  The abnormalities reviewed include more common findings of pulmonary hypoplasia, congenital diaphragmatic hernia, congenital pulmonary airway malformation, bronchopulmonary sequestration, as well as the rarer conditions of congenital fetal hydrothorax, congenital high airway obstruction syndrome, bronchogenic cysts, neurenteric cysts, and lung agenesis.  With each abnormality, the clinical implications for the fetus, best methods for prenatal diagnosis, as well as possible additional anomalies, syndromes, and aneuploidies are described.  In utero and postnatal treatments are also reviewed.   This review contains 10 figures, and 37 references. Key Words: Pulmonary hypoplasia, lung-head ratio, congenital diaphragmatic hernia, congenital pulmonary airway malformation, congenital fetal hydrothorax, bronchopulmonary sequestration, congenital high airway obstruction syndrome, bronchogenic cyst, neurenteric cyst, lung agenesis


2019 ◽  
Author(s):  
Karen M. Davidson

The normal and abnormal development of the organs lying within the fetal thorax is discussed.  The abnormalities reviewed include more common findings of pulmonary hypoplasia, congenital diaphragmatic hernia, congenital pulmonary airway malformation, bronchopulmonary sequestration, as well as the rarer conditions of congenital fetal hydrothorax, congenital high airway obstruction syndrome, bronchogenic cysts, neurenteric cysts, and lung agenesis.  With each abnormality, the clinical implications for the fetus, best methods for prenatal diagnosis, as well as possible additional anomalies, syndromes, and aneuploidies are described.  In utero and postnatal treatments are also reviewed.   This review contains 10 figures, and 37 references. Key Words: Pulmonary hypoplasia, lung-head ratio, congenital diaphragmatic hernia, congenital pulmonary airway malformation, congenital fetal hydrothorax, bronchopulmonary sequestration, congenital high airway obstruction syndrome, bronchogenic cyst, neurenteric cyst, lung agenesis


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