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Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a rare and lethal developmental disorder of the lung that affect both acinar structure and the intrinsic pulmonary vasculature. We report prenatal and postnatal imaging with histopathological findings of this rare condition. We, first, describe MR imaging features and discuss its role in prenatal imaging.

A bilateral congenital hernia diaphragmatica of Morgagni A thorax radiography in order to evaluate a pulmonary problem of a six-month-old child revealed a congenital hernia diaphragmatica (CHD) (Morgagni) and incited us to investigate the embyrology and anatomy of the diaphragm as the starting point of possible therapeutical strategies. The pathofysiology exerted a central role in this assay. Pulmonary hypertension and lung hypoplasia are essential elements for determining the prognosis. A CHD is seen with a frequency of 1/2500 births. The posterolateral type (Bochdalek) is by far the most common (90% of the cases). In the hereby reported case we were confronted with a bilateral hernia of the anterolateral type (Morgagni). Diagnosis of a CHD of the Bochdalek type occurs more frequently antenatally. The development of minimally invasive techniques also during intra-uterine life, remains a challenge for the future.

Background Lethal fetal akinesia deformation sequence (FADS) describes a clinically and genetically heterogeneous phenotype that includes fetal akinesia, intrauterine growth retardation, arthrogryposis and developmental anomalies. Affected babies die as a result of pulmonary hypoplasia. We aimed to identify the underlying genetic cause of this disorder in a family in which there were three affected individuals from two sibships. Methods Autosomal-recessive inheritance was suggested by a family history of consanguinity and by recurrence of the phenotype between the two sibships. We performed exome sequencing of the affected individuals and their unaffected mother, followed by autozygosity mapping and variant filtering to identify the causative gene. Results Five autozygous regions were identified, spanning 31.7 Mb of genomic sequence and including 211 genes. Using standard variant filtering criteria, we excluded all variants as being the likely pathogenic cause, apart from a single novel nonsense mutation, c.188C>A p.(Ser63*) (NM_002478.4), in MYOD1 . This gene encodes an extensively studied transcription factor involved in muscle development, which has nonetheless not hitherto been associated with a hereditary human disease phenotype. Conclusions We provide the first description of a human phenotype that appears to result from MYOD1 mutation. The presentation with FADS is consistent with a large body of data demonstrating that in the mouse, MyoD is a major controller of precursor cell commitment to the myogenic differentiation programme.

A 3-year-old Chinese boy was diagnosed with ipsilateral congenital malformations: right lung hypoplasia, dextroversion of heart, atrial septal defect, hepatic vein drainage directly into the right atrium, facial asymmetry, right microtia and congenital deafness, and indirect inguinal hernia. He underwent indirect inguinal hernia repair at the age of 2. Although without any facial plastic surgery performed, he underwent a repair of atrial septal defect and recovered uneventfully. At 6-month follow-up, the patient was free from any symptom of dyspnea; his heart function returned to the first grade.

Congenital diaphragmatic hernia (CDH) retains high mortality due to lung hypoplasia and pulmonary hypertension. Efforts to improve survival and outcome have included fetal intervention, delivery at specialist centres, elective operation after stabilisation of labile physiology and minimising barotrauma. Permissive hypercapnea ('gentle ventilation') represents a significant advance in therapy gaining wider acceptance in centres worldwide. Human genetic studies are underway to identify candidate genes for the birth defect. Progress in the basic sciences may uncover critical aspects of developmental biology fundamental to CDH. Clinical trends in perinatal management of CDH are highlighted, which underpin the challenges of this lethal human anomaly.

A case of left sided lung hypoplasia is described in a seven year old female. She was admitted in our department with complaints of recurrent chest infections since infancy. Clinical examination revealed a febrile child with respiratory distress and with grossly diminished breath sound with patchy coarse crepitations on left hemithorax. X-ray chest revealed non homogenous opaque shadow on left hemithorax. Bronchscopy and CT thorax confirmed the diagnosis of left sided hypoplasia of lung. No other developmental anomaly was noted. DOI: http://dx.doi.org/10.3126/jnps.v33i2.7661 J Nepal Paediatr Soc. 2013; 33(2):138-140

An 82-year-old woman was transferred from her local hospital to our National Pulmonary Hypertension Service because of the suspicion of pulmonary hypertension. A month previously, she attended her local Accident & Emergency Department with a minor injury to her left leg. During triage an oxygen saturation of 85% was noted. She was cyanotic but she did not report any breathlessness, respiratory rate was in a normal range, and she was normotensive. On history she reported being limited when walking, which she considered normal for her age and she remained fully independent. Chest X-Ray (Figure 1) showed a large hernia that occupied central and right chest, raising suspicions of a Bochdalek hernia. High-resolution computed tomography and computed tomography pulmonary angiogram were performed and confirmed the presence of a large postero-lateral Bochdalek hernia with the stomach and portions of small and large bowel occupying a substantial portion of the right thoracic cavity and associated with right lung hypoplasia (Figure 2A–2D).There was no evidence …

For safer and simpler neonatal ECMO management, the authors have been developing an innovative, automatically-controlled ECMO machine using self-regulating blood pumps. The newest model is an air-driven, tube-type blood pump. A pair of blood pumps are placed in parallel and actuated alternately with compressed air. The pump flow is automatically regulated in accordance with hemodynamic changes of the body. The need for a venous reservoir is eliminated because the circuit does not generate excessive negative pressure when there are shortages of draining blood. Therefore, the priming volume of the circuit is only 85 ml. This ECMO apparatus has three driving modes, one of which is a "delay" mode. This enables the pump flow to easily be varied from 10 to 500 ml/min under automatic control, and it can be used when the pump flow is decreased for weaning. This newest ECMO apparatus was clinically used in 3 neonates with severe lung hypoplasia and persistent fetal circulation. The ECMO duration was 139 h to 168 h, and the maximum ECMO flow 71.3 to 109.0 ml/min/kg. Thanks to the self-regulation, intensive observation of the circuit was not necessary during ECMO. Damage to blood cells was less significant, and the use of blood products was only minimal (15.7 ml/kg/day) because a large volume of blood to stabilize the pump performance was not necessary. In conclusion, the automatically-controlled ECMO apparatus worked well without complications by changing the ECMO flow automatically in accordance with hemodynamic changes. This automatic ECMO system required fewer personnel expenditures and was also favorable in terms of hematological findings.

The aim of this study was to determine the accuracy of a new computer-assisted stereological technique in obtaining structural information of the lung. We compared the point fraction of lung parenchyma (Pp) and alveolar surface density (Sv) obtained by established manual point/intercept counting methods and compared them with those obtained using a computer-assisted method. Lung tissues obtained from normally grown fetal sheep (n = 6) and from newborn lambs with severe lung hypoplasia (n = 5) were inflation fixed via the trachea and processed for light microscopy. In verification-of-technique experiments, Pp and Sv correlated well with known values. There was a significant linear correlation between manual and computer-assisted stereological measurements for values of Pp (r2 = 0.92) and Sv (r2 = 0.98). Our data lead us to believe that the computer-assisted stereological technique described in this study provides accurate estimates of Pp and Sv and hence may be a valuable tool for evaluating the effects of factors upon structural development of the lung.

Congenital Lumbar hernia was previously known as Lumbocostovertebral syndrome. This syndrome consists of the presence of hemivertebrae, rib defects, abdominal wall anomalies and hypoplasia of the abdominal musculature. This case report describes a 40-hour-old infant with malrotation of left kidney and hydronephrosis in association with congenital lumbar hernia. Various congenital renal anomalies like renal pyelectasis, bilateral renal agenesis and pelviureteric junction obstruction, malascended kidneys, hypospadiasis have been reported in association with this disease. Malrotation has only been reported in adults so far. However ours is the first ever case in literature to report malrotation of kidney in association with this syndrome in neonatal age group. Treatment of this condition is done usually by mesh hernioplasty. Presence of this condition must prompt the surgeon to carry out all possible investigations to rule out various other congenital orthopedic, neurological, and urological anomalies.

A co-existing right congenital diaphragmatic hernia and omphalocele is rare. We present images of a fetus diagnosed with this rare combination of anomalies. Early neonatal death occurred immediately after full-term birth due to severe respiratory insufficiency. In this case, disturbance of chest wall development due to the omphalocele rather than the diaphragmatic hernia was considered as the main cause of lung hypoplasia. Our experience suggests that caution should be exercised for severe respiratory insufficiency in a neonate with an omphalocele and diaphragmatic hernia, even in the absence of an intra-thoracic liver, one of the indicators of poor outcome for congenital diaphragmatic hernia.

A 49-year-old female presented with pneumonia. On examination, heart sounds were heard on the right side of the chest, resulting in an initial impression of dextrocardia. Chest X-ray (Fig. 1) and echocardiography demonstrated dextro-position of the heart with no associated congenital anomalies. Subsequently, computed tomography of the chest was performed, revealing an absence of a right lung parenchyma with abrupt termination of right main bronchus after bifurcation of the carina, and a shift of the heart to the right side as shown in Fig. 2. No other congenital anomalies were detected. Figure 1 Chest X-ray of the chest showing possible dextrocardia. Figure 2 Computed tomographic scan of the chest showing agenesis of the right lung with dextro-position of the heart. The left lung has an area of consolidation and a large pleural effusion.

Background: A recent study has revealed that the peripheral airspace in the lungs of the fawn-hooded rat (FHR) is enlarged. However, morphological and functional factors of the FHR lung have not been fully investigated. Objective: The purpose of our study was to examine the structural and functional changes in the FHR lung and to investigate the influence of aging on this process. Furthermore, morphological and functional measurements of the lungs of FHRs (4–48 weeks of age) were performed and the results compared with those of age-matched Wistar control rats (WCRs). Methods: All animals were studied under controlled conditions, and morphological and functional changes of the lungs were examined. Measurements of body and lung weights were recorded, and the lungs were subjected to morphological evaluation. Morphological measurements: mean linear intercept (MLI) and destructive index were determined. Functional evaluation of the lungs: total lung capacity, pressure-volume curve, and exponential constant (K) which describes the shape of the curve were analyzed. In addition, right ventricular hypertrophy measurements were performed to assess the severity of pulmonary hypertension. Statistical analysis was performed using the unpaired t test, analysis of variance, and the Fisher post hoc test (p < 0.05). Results: Morphological analysis revealed a significant increase in airspace size (MLI) in all FHRs as compared with the WCRs which was evident from an early age (4 weeks). The increase in MLI did not progress age dependently in the FHR, whereas a tendency for an age-dependent increase in MLI was observed in the WCR. The destructive index measurements revealed that the increase in MLI of FHR was not accompanied by alveolar wall destruction. Concerning the functional examination, a leftward and upward shift of the pressure-volume curve was observed in the FHRs as compared with the WCRs at all ages. As compared with the WCRs, a higher K value was observed in all FHRs which was evident from an early age (4 weeks). Age-dependent changes similar to those in MLI were observed in the K in both rat strains. Conclusions: The results of our study suggest that FHRs manifest characteristics of distal airspace enlargement accompanied by increased lung distensibility without alveolar wall destruction at an early age and that the changes do not progress age dependently. Neither an accelerated aging process nor destruction of the alveolar walls appears to be the mechanism responsible for the enlarged airspace in this rat strain.

Unilateral pulmonary artery agenesis with lung hypoplasia is very rare and only a few cases have been reported in the literature. Some patients with hypoplasia may suffer from recurrent hemopty-sis dyspnea, and lung infections. Other patients are asymptomatic. Chest X-Ray reveal a reduction in the volume of hemithorax, an elevation in the diaphragm, reduced intercostals spaces and medi-astinal shift in the affected side. We present a 15 year old male patient who complained of shortness of breath and chest pain.

despite progress in neonatal care and despite changing concepts in treatment in the recent years, the mortality rate of infants with congenital diaphragmatic hernia (CDH) remains high ([20][1]). Pulmonary hypoplasia and vascular alterations associated with CDH have tremendous postnatal functional

Congenital diaphragmatic hernia (CDH) leads to lung hypoplasia. Using dynamic contrast-enhanced (DCE) MR imaging, lung perfusion can be quantified. As MR perfusion values depend on temporal resolution, we compared two protocols to investigate whether ipsilateral lung perfusion is impaired after CDH, whether there are protocol-dependent differences, and which protocol is preferred.DCE-MRI was performed in 36 2-year old children after CDH on a 3 T MRI system; protocol A (n = 18) based on a high spatial (3.0 s; voxel: 1.25 mm(3)) and protocol B (n = 18) on a high temporal resolution (1.5 s; voxel: 2 mm(3)). Pulmonary blood flow (PBF), pulmonary blood volume (PBV), mean transit time (MTT), and peak-contrast-to-noise-ratio (PCNR) were quantified.PBF was reduced ipsilaterally, with ipsilateral PBF of 45 ± 26 ml/100 ml/min to contralateral PBF of 63 ± 28 ml/100 ml/min (p = 0.0016) for protocol A; and for protocol B, side differences were equivalent (ipsilateral PBF = 62 ± 24 vs. contralateral PBF = 85 ± 30 ml/100 ml/min; p = 0.0034). PCNR was higher for protocol B (30 ± 18 vs. 20 ± 9; p = 0.0294). Protocol B showed higher values of PBF in comparison to protocol A (p always0.05).Ipsilateral lung perfusion is reduced in 2-year old children following CDH repair. Higher temporal resolution and increased voxel size show a gain in PCNR and lead to higher perfusion values. Protocol B is therefore preferred.• Quantitative lung perfusion parameters depend on temporal and spatial resolution. • Reduction of lung perfusion in CDH can be measured with different MR protocols. • Temporal resolution of 1.5 s with spatial resolution of 2 mm (3) is suitable.

Unilateral primary pulmonary hypoplasia is rare in adulthood. It is usually present in the neonatal period or in early childhood, and is characterized by a decreased number of bronchial segments and decreased/absent alveolar air space. Most patients have recurrent episodes of wheezing or pneumonia and severe respiratory distress leading to chronic respiratory failure, whereas some patients may occasionally be asymptomatic. Herein, we present a case of left lung hypoplasia in an asymptomatic 28-year-old male, who was admitted to the hospital for further investigation of an abnormal result on a chest radiograph that was obtained as part of a health evaluation for military service. A thorough workup, including imaging modalities and bronchoscopy, disclosed a hypoplastic left lung, which had gone undiagnosed for 25 years. Embryological, clinical, and diagnostic aspects are briefly discussed.

Neonates with congenital diaphragmatic hernia (CDH) continue to experience a high mortality rate despite intensive medical and surgical management. Accumulated evidence shows that the lungs of babies dying with this anomaly are biochemically and histologically immature and similar to those of premature newborns with respiratory distress syndrome (RDS). Using prenatal hormonal therapy regimes adapted from those used to treat RDS, striking maturational improvements have been demonstrated in the lungs of experimental animals with CDH. This review focuses attention on the evolution and clinical implications of these experimental findings that may provide an opportunity to improve the outlook for human fetuses with antenatally diagnosed CDH.

Combined color-coded Doppler and pulsed Doppler ultrasonography allows visualization of the fetal pulmonary circulation and study of pulmonary blood flow velocity waveforms. Systolic and diastolic changes were observed in fetal pulmonary artery flow velocity waveforms in a case of fetal pulmonary hypoplasia at 34 weeks of gestation. This observation supports our hypothesis that Doppler velocimetry can detect lung hypoplasia based on post- mortem examination of decreased total size of the pulmonary vascular bed, decreased number of pulmonary vessels per unit lung tissue and increased pulmonary vascular muscularization.

Our aim was to determine whether an existing lung growth deficit could be reversed, in utero, by short-term (6 d) obstruction of the fetal trachea. Chronically catheterized fetal sheep (term approximately 145 d) were divided into four groups: 1) no treatment (control); 2) continuous lung liquid drainage to induce lung hypoplasia (105-134 d, drain); 3) lung liquid drainage to induce lung hypoplasia (105-128 d), followed by restoration of tracheal flow (128-134 d, drain and reconnect); and 4) lung liquid drainage to induce lung hypoplasia (105-128 d), followed by tracheal occlusion to accelerate lung growth (128-134 d, drain and obstruct). Lung liquid volumes and secretion rates were measured on d 125, 130, and 134 of gestation and postmortem data collected on d 135. Compared with controls, continuous lung liquid drainage (drain) significantly reduced wet lung weights (34.3 +/- 2.6 g/kg versus 13.3 +/- 1.4 g/kg) and total lung DNA contents (177 +/- 11 mg/kg versus 94 +/- 7 mg/kg). Reestablishing tracheal flow for 6 d (drain and reconnect) increased fetal lung wet weights (19.2 +/- 1.6 g/kg), but not total DNA contents (106 +/- 9 mg/kg), compared with lung liquid drained fetuses (drain). After 6 d of tracheal obstruction (drain and obstruct) lung liquid volumes, wet lung weights, and total protein contents (weight, 28.6 +/- 2.8 g/kg; protein, 1376 +/- 97 mg/kg) were similar to control values (weight, 34.3 +/- 2.6 g/kg; protein, 1506 +/- 123 mg/kg); lung DNA contents were less than control but greater than values from lung liquid drained fetuses (drain and obstruct, 140 +/- 9 mg/kg versus drain, 94 +/- 7 mg/kg). We conclude that obstruction of the trachea can reverse an existing fetal lung growth deficit in approximately 6 d, whereas merely restoring tracheal continuity does not increase fetal lung growth.

A case is reported in which qualitatively, grossly abnormal fetal breathing movements turned out to be indicative of complete tracheal atresia. Fetal breathing movements were vigorous and jerky and of large amplitude; similarly abnormal movements were observed after birth. At postmortem tracheal atresia was diagnosed, in combination with other congenital abnormalities, which pointed to a VATER-association. The combination of a VATER-association with tracheal atresia has only been reported once before. An absence of the normal Hering-Breuer reflex in this case of complete tracheal atresia, probably explains the abnormal fetal breathing pattern. This case is in line with a growing number of reports in literature in which qualitatively abnormal fetal movements were indicative of congenital malformations.

Three related patients are described with glycogenosis type IV with an unusual clinical presentation resulting in perinatal death. Stored material showed birefringent Maltese crosses and was present in skeletal muscles, heart, central nervous system, and liver. Muscular dysfunction resulted in a fetal hypokinesia sequence with arthrogryposis and lung hypoplasia. A subdivision of glycogenosis type IV in four subtypes is proposed, based on age of onset. Measurement of the enzyme activities in different tissues does not permit, at the moment, a distinction between the subtypes.

Focal and symmetric necrotic lesions of the brainstem are thought to result from fetal hypotension or cardiac arrest in the perinatal period and thus occur in the course of postnatal intensive care rather than in utero. Here, we report for the first time on brainstem necrosis in a preterm stillborn demonstrating that brainstem necrosis occurs already in utero. The preterm stillborn of 28 weeks gestation of a mother that suffered from HELLP-syndrome was severely affected by a fetal hydrops with bilateral pleural effusions and lung hypoplasia. Bilateral tegmental brainstem necrosis and thalamic lesions were detected.

Although limb anomalies are a common clinical problem, they are rarely studied. The spectrum of limb anomalies ranges from very mild disorders such as syndactyly to very severe forms such as absent limb (amelia). Tetra-amelia is a rare anomaly with complete or partial deficiency of all four limbs. It may be isolated or associated with other anomalies. Roberts-SC phocomelia syndrome comprises four limb deficiencies, lung hypoplasia, facial clefts and other anomalies. We describe two cases that presented to us.

We describe and illustrate a rare association of hypoplastic left heart syndrome, absent hilar left pulmonary artery, and an unusual bronchopulmonary malformation. This case highlights the utility of combination imaging of echocardiography and CT angiography in diagnosing a cyanotic newborn with a chest radiograph that is suspicious for lung hypoplasia.

Traduction anglaise de l'article Arch Pediatr. 2004 Jun;11(6):515-7 Référence pubmed : 15158815; A systematic analysis was made of the autopsies of 74 newborns and fetuses (49 pathological cases and 25 controls) to detect defects in lung growth. In each case lung/body (L/B) weight ratio was calculated, and radial alveolar (RA) count and histological assessment were performed. The L/B ratio is of diagnostic value when lower than 0.012 but not when there is intercurrent disease. RA count is low in lung hypoplasia but is not an entirely reliable diagnostic criterion since it change throughout pregnancy and the earlier the gestational age the wider the range of variation. Histological assessment showed an abnormally high number of bronchi and bronchi in distal location with in some cases delayed differentiation of distal airways. If any one of the above three critera fails to determine lung hypoplasia the other two can be used to arrive at diagnosis.

La hernia diafragmática congénita, se cree es resultado de la fusión incompleta de la membrana pleuroperitoneal y el paso del contenido abdominal al interior del tórax. Realizamos una revisión de la literatura sobre la etiología y del tratamiento de esta patología. Congenital diaphragmatic hernia is believed to result from incomplete pleuroperitoneal membrane fusion and passage of abdominal contents into the chest. We carry out a literature review regarding the etiology and treatment of this pathology.

Hypophosphatasia with lung hypoplasia forms a lethal combination. A case with an a priori risk of 25% is reported in which the diagnosis was made by ultrasound.