Pulmonary Agenesis Research Articles

Pulmonary Artery Agenesis and Lung Hypoplasia

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.

Letters to the Editor

11 December 2008 Dear Editor, UNILATERAL LUNG AGENESIS: COINCIDENCE OR ASSOCIATION WITH MATERNAL VALPROATE THERAPY? Management of epilepsy in pregnant women is a complex issue as use of antiepileptic medications increase the risk of congenital malformation in the foetus.1 The antiepileptic drug, sodium valproate, is a known teratogen with a constellation of recognised facial features and congenital malformations described in foetal valproate syndrome.2 Infants of mothers receiving valproate more than 1000 mg are at increased risk of congenital malformation, particularly neural tube defects.1 Exposure of foetus to valproate uncommonly results in pulmonary anomalies. Bilateral pulmonary hypoplasia with immature histology was reported in a series of three cases as a possible teratogenic effect of valproate.3 Other reported but rare pulmonary malformations in foetal valproate syndrome include tracheomalacia, abnormal lobulation of right lung, severe laryngeal hypoplasia and oligaemic right lung.4 Association of unilateral lung hypoplasia with maternal exposure to a combination of phenytoin and carbamazepine has been reported.1 A male infant was born at 38 weeks gestation with a birth weight of 2915 grams. The mother was a 32-year-old multiparous lady. During pregnancy, she continued to take sodium valproate, 1000 mg/day, to control grand mal epilepsy. This pregnancy was complicated by the detection of a possible left congenital diaphragmatic hernia on antenatal ultrasound at 18 weeks gestation. An amniocentesis performed at 19 weeks gestation demonstrated a normal male karyotpye. A foetal magnetic resonance imaging scan performed at 21 weeks gestation suggested hypoplasia of the left lung with a normal diaphragm. The infant delivered normally with Apgar scores of 6 and 6 at 1 and 5 min, respectively. There were no dysmorphic features of foetal valproate syndrome. He was managed in a neonatal intensive care unit with continuous positive airway pressure (CPAP) and received a single dose of surfactant. He was treated with phenobarbitone to manage symptoms of valproate withdrawal at approximately 24 h of age. Chest X-rays demonstrated dense opacification with loss of lung volume in the left hemithorax. The computed tomography scan showed absence of lung, bronchial tree, pulmonary artery and veins on the left side (Fig. 1). Echocardiogram showed a structurally normal heart with absence of the left pulmonary artery and left pulmonary veins. He was treated with nasal mask CPAP support for 7 weeks and was weaned successfully to room air at the age of 8 weeks. A polysomnography study showed no oxygen desaturation or hypercapnia while ventilating in room air. He was discharged home with paediatric respiratory follow-up. Computed tomography scan of chest showing absence of carina and left lung. Pulmonary agenesis is complete absence of carina, bronchial tree and lung tissue, and the trachea continues as main bronchus. In pulmonary aplasia, carina and rudimentary main bronchus are present, but lung tissue is absent.5 Pulmonary agenesis is a rare malformation. The prevalence of agenesis of lung was reported to be 0.0034% among hospital admissions.6 The aetiology of lung agenesis is not certain, but possible genetic predisposition has been described.6 Our literature review did not find any other case of unilateral lung agenesis in association with maternal valproate intake. Given the rarity of pulmonary agenesis, it is possible that the foetal exposure to valproate in this report is a chance association. However, this observation will add to previously known pulmonary pathologies seen in association with maternal valproate use and could be relevant from a prenatal counselling point of view.

A Case with the Combination of Bilateral Microphthalmia, Unilateral Pulmonary Agenesis, Diaphragmatic Eventration and Atrial Septal Defect: PDAC Syndrome

A Case with the Combination of Bilateral Microphthalmia, Unilateral Pulmonary Agenesis, Diaphragmatic Eventration and Atrial Septal Defect: PDAC Syndrome

Ex-utero intrapartum therapy

The ex-utero intrapartum therapy (EXIT) procedure was designed to secure the airway at delivery in fetuses who had undergone tracheal occlusion for severe congenital diaphragmatic hernia. The EXIT was then adapted for deliveries where the airway may be difficult to secure, such as large neck masses or congenital high airway obstruction. Subsequently, use of EXIT has been extended to fetal anomalies where resuscitation may be compromised, including large thoracic masses, severe congenital diaphragmatic hernia, or pulmonary agenesis. The key to EXIT is preservation of uteroplacental blood flow and gas exchange, using inhalational agents to provide uterine relaxation, and maintenance of uterine volume by amnioinfusion and only partial exposure of the fetus. This provides time for procedures such as laryngoscopy, bronchoscopy, vascular access, resection of neck or lung masses, or cannulation for extracorporeal membrane circulation, in order to convert an emergent crisis to a controlled situation.

Unilateral left lung agenesis with crossed-ectopic right lower lobe combined tricuspid atresia diagnosed by ECG gated computed tomography

Young in-fants with this condition may face a catastrophic clinicalcourse. We report an unusual case of lung agenesis withcomplexcardiacanomaliesand crossedectopiclungcompli-cating diagnosis in a 6-month-old child.CLINICAL SUMMARYAboywasbornuneventfullytoahealthymotheratagesta-tionalageof37weeks.Lowbirthweight(1700g)andmultiplecongenital anomalies were found at birth, including large an-terior fontanel and syndactyly over the second and third toes.Because tachypnea and heart murmur were heard 3 days afterbirth, serial workup was arranged. Chest radiography showedleft lung haziness (Figure 1), and echocardiography showedtricuspid atresia, small ventricular septal defect, atrial septaldefect, large patent ductus arteriosus, and suspected left pul-monary artery and pulmonary vein agenesis (Figure 2, A andB). Because ofthe suspected left lung agenesis, electrocardio-graphically gated chest computed tomography and 3-dimen-sional reconstruction were performed (Figure 2, C and D,andVideo1).Crossedectopicrightlowerlobeinthelefthemi-thoraxwasfoundincidentally,inadditiontoleftlungagenesisandtricuspidatresia.Thearteriesandveinssupplyingnotonlythislobebut alsothe bronchusofthislobewerefromthe rightlung.Thepatient’srespiratorydistressandheartfailuresymp-toms improved after anticongestive medication, and he wasthen discharged at 2 weeks old.When the boy was 5 months old, mean pulmonary arterypressure was measured as 10 mm Hg by cardiac catheteriza-tion. We then performed a staged operation including bidi-rectional Glenn shunt, atrial septal defect enlargement, andpatent ductus arteriosus ligation for his tricuspid atresia.The postoperative course was uneventful, and the patientwas discharged 10 days after the operation and followedup at our cardiology clinics. Total cavopulmonary circula-tion will be arranged in the future.DISCUSSIONLung agenesis is a rare congenital anomaly that may beassociated with multiple congenital anomalies.

A Case with the Combination of Bilateral Microphthalmia, Unilateral Pulmonary Agenesis, Diaphragmatic Eventration and Atrial Septal Defect: PDAC Syndrome

The combination of pulmonary agenesis and anophtalmia or microphthalmia has been described previously. This condition is known as Matthew-Wood syndrome and PDAC syndrome (pulmonary hypoplasia/ agenesis, diaphragmatic hernia/eventration, anophthalmia/microphthalmia, and cardiac defect). We report a sporadic case of female infant with the combination of bilateral microphthalmia, unilateral right pulmonary agenesis and diaphragmatic eventration in addition to atrial septal defect (ASD) suggesting PDAC syndrome.

Caudal Regression and Tracheoesophageal Malformation Induced by Adriamycin: A Novel Chick Model of VATER Association

VATER association represents a cluster of Vertebral, Anal, Tracheo-Esophageal, Radial and Renal malformations, and caudal regression syndrome is an entity consisting of a spectrum of congenital anomalies of lower spine and hips associated with genitourinary and lower limb defects. The concurrence of various malformations may be explained by a common defect in blastogenesis, but direct evidence is yet to be accumulated. Here, by the use of autofluorescence and the teratogenic effect of adriamycin, we demonstrated that adriamycin administered to eggs of White Leghorns distributes to the caudal portion of the embryo and foregut epithelium and induces caudal regression and tracheal and pulmonary agenesis. The induction of caudal regression syndrome-like anomaly was developmental stage and dose dependent. Embryos with caudal regression demonstrated tracheoesophageal anomalies, one of the defects included in VATER association. The stages at which anomalies were produced corresponded to that of human embryos between days 22 and 26 (Carnegie stages 10-11). In view of the antitumor activity of adriamycin by intercalating to double-stranded DNA of undifferentiated cells undergoing rapid cell division, it is possible that adriamycin had preferentially attacked cells in the caudal end where pronounced proliferation takes place during this narrow period of greatest susceptibility.

Pediatric tracheal reconstruction with pericardial patch and strips of autologous cartilage☆

To analyze the results of pediatric tracheal reconstruction with autologous pericardial patch and strips of cartilage. From September 2003 to February 2008 14 non-consecutive children were operated using pericardial patch augmentation of the trachea combined with external reinforcement with strips of autologous cartilage. Thin semicircular strips were fashioned from costal arch cartilage. Associated vascular rings, slings and aberrantly coursing arteries were treated first. Cardiopulmonary bypass was used in all. Intraoperative tracheobronchoscopy was done in all. Postoperative bronchoscopies were performed at different time points. A retrospective analysis of patient records, surgical reports, tracheobronchoscopies, echocardiographic studies and CT scans was performed. Pre- and postoperative trachea cross-sectional areas were digitally measured and compared to cricoid cross-sectional areas in six patients. A paired t-test was used to make comparisons. Median age at operation was 21.3 (range 2.5-85) months. Ten patients were female. Four had associated surgery for cardiac anomalies. Double aortic arch (8), pulmonary artery sling (2), and aberrant origin of brachiocephalic artery (1) were concomitantly treated. Two patients had pulmonary agenesis. One patient had stenosis due to systemic inflammatory disease. Median follow-up was 27 (1-53) months. Late mortality occurred in one patient with pulmonary agenesis. One patient was reoperated and two bronchoscopies were done to remove granulation tissue. Median postoperative ventilation time was 5.5 (3-12) days with the exception of patients with pulmonary agenesis. Mean preoperative cross-sectional area was 29.4 +/- 22.5% of the lumen at cricoid level. At last bronchoscopy this had increased to 65.0 +/- 12.5% (p = 0.0001). To evaluate the stability of the reconstructed trachea, we compared the mean luminal areas at inspiration and expiration. No difference was observed (p = 0.13). One patient remains with mild stridor at exercise; all others have no respiratory symptoms. A stable wide trachea can be obtained in the great majority of cases, including whole length tracheal obstructions with complete circular rings. The technique is safe and reproducible with short intensive care stay and good mid-term results. Growth of the reconstructed trachea appears to be unrestricted.

Prenatal diagnosis of unilateral pulmonary agenesis in a pregnant woman undergoing chronic hemodialysis due to chronic renal failure

Prenatal DiagnosisVolume 29, Issue 7 p. 707-709 Research Letter Prenatal diagnosis of unilateral pulmonary agenesis in a pregnant woman undergoing chronic hemodialysis due to chronic renal failure Taro Nonaka, Taro Nonaka Department of Obstetrics and Gynecology, Niigata University Graduate School of Medical and Dental Sciences, 1-757, Asahimachi-dori, Niigata, 951-8510, JapanSearch for more papers by this authorAkira Kikuchi, Corresponding Author Akira Kikuchi no4achy@med.niigata-u.ac.jp Department of Obstetrics and Gynecology, Niigata University Graduate School of Medical and Dental Sciences, 1-757, Asahimachi-dori, Niigata, 951-8510, JapanDepartment of Obstetrics and Gynecology, Niigata University Graduate School of Medical and Dental Sciences, 1-757, Asahimachi-dori, Niigata City, Niigata 951-8510, Japan.Search for more papers by this authorNaoko Kido, Naoko Kido Department of Obstetrics and Gynecology, Niigata University Graduate School of Medical and Dental Sciences, 1-757, Asahimachi-dori, Niigata, 951-8510, JapanSearch for more papers by this authorYasuhiro Takahashi, Yasuhiro Takahashi Department of Obstetrics and Gynecology, Niigata University Graduate School of Medical and Dental Sciences, 1-757, Asahimachi-dori, Niigata, 951-8510, JapanSearch for more papers by this authorKyoko Yamada, Kyoko Yamada Department of Obstetrics and Gynecology, Niigata University Graduate School of Medical and Dental Sciences, 1-757, Asahimachi-dori, Niigata, 951-8510, JapanSearch for more papers by this authorTohei Usuda, Tohei Usuda Department of Pediatrics, Niigata University Graduate School of Medical and Dental Sciences, 1-757, Asahimachi-dori, Niigata, 951-8510, JapanSearch for more papers by this authorKoichi Takakuwa, Koichi Takakuwa Department of Obstetrics and Gynecology, Niigata University Graduate School of Medical and Dental Sciences, 1-757, Asahimachi-dori, Niigata, 951-8510, JapanSearch for more papers by this authorKenichi Tanaka, Kenichi Tanaka Department of Obstetrics and Gynecology, Niigata University Graduate School of Medical and Dental Sciences, 1-757, Asahimachi-dori, Niigata, 951-8510, JapanSearch for more papers by this author Taro Nonaka, Taro Nonaka Department of Obstetrics and Gynecology, Niigata University Graduate School of Medical and Dental Sciences, 1-757, Asahimachi-dori, Niigata, 951-8510, JapanSearch for more papers by this authorAkira Kikuchi, Corresponding Author Akira Kikuchi no4achy@med.niigata-u.ac.jp Department of Obstetrics and Gynecology, Niigata University Graduate School of Medical and Dental Sciences, 1-757, Asahimachi-dori, Niigata, 951-8510, JapanDepartment of Obstetrics and Gynecology, Niigata University Graduate School of Medical and Dental Sciences, 1-757, Asahimachi-dori, Niigata City, Niigata 951-8510, Japan.Search for more papers by this authorNaoko Kido, Naoko Kido Department of Obstetrics and Gynecology, Niigata University Graduate School of Medical and Dental Sciences, 1-757, Asahimachi-dori, Niigata, 951-8510, JapanSearch for more papers by this authorYasuhiro Takahashi, Yasuhiro Takahashi Department of Obstetrics and Gynecology, Niigata University Graduate School of Medical and Dental Sciences, 1-757, Asahimachi-dori, Niigata, 951-8510, JapanSearch for more papers by this authorKyoko Yamada, Kyoko Yamada Department of Obstetrics and Gynecology, Niigata University Graduate School of Medical and Dental Sciences, 1-757, Asahimachi-dori, Niigata, 951-8510, JapanSearch for more papers by this authorTohei Usuda, Tohei Usuda Department of Pediatrics, Niigata University Graduate School of Medical and Dental Sciences, 1-757, Asahimachi-dori, Niigata, 951-8510, JapanSearch for more papers by this authorKoichi Takakuwa, Koichi Takakuwa Department of Obstetrics and Gynecology, Niigata University Graduate School of Medical and Dental Sciences, 1-757, Asahimachi-dori, Niigata, 951-8510, JapanSearch for more papers by this authorKenichi Tanaka, Kenichi Tanaka Department of Obstetrics and Gynecology, Niigata University Graduate School of Medical and Dental Sciences, 1-757, Asahimachi-dori, Niigata, 951-8510, JapanSearch for more papers by this author First published: 01 April 2009 https://doi.org/10.1002/pd.2262Citations: 6AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinked InRedditWechat Citing Literature Volume29, Issue7July 2009Pages 707-709 RelatedInformation

Unilaterale pulmonale Agenesie, Aplasie und Dysplasie

Unilateral pulmonary anomalies are rare events of unknown etiology and large clinical variability. Neonatal history does not allow for a reliable prognosis. Interdisciplinary mangament includes prenatal diagnostics and obstetrics, genetics, neonatology, pediatric cardiology and surgery as well as pediatric orthopedics. Neonatal history and long-term follow-up in three patients are presented here including a discussion of prenatal diagnostics and the embryo-genetic basics of lung development. In three term neonates the diagnoses of unilateral pulmonary agenesis, aplasia and dysplasia, respectively, were based on angiography, MRI and bronchoscopy. Neonatal presentation and long-term consequences were studied in the context of the current literature. Neonatal complications ranged from mild repiratory distress to pulmonary failure requiring mechanical ventilation. One patient developed scoliosis on long-term follow-up. Cardiac failure or pulmonary hypertension did not occur during follow-up, in one case lung malformation was accompanied by VACTER-association. Unilateral lung malformation is frequently associated with other, singular or complex anomalies (e.g., renal and vascular). A possible relationship to disrupted regulation of embryo-genetic factors such as T-BOX genes, PITX2 and growth factors ( FGF10), which regulate ASYMMETRICAL pulmonary morphogenesis is discussed. Disruptive unilateral pulmonary malformations may serve as a model for embryological lung development and other anomalies (e.g., congenital diaphragmatic hernia, unilateral hypoplasia and CCAM). Prenatal diagnosis is characterized by unilateral hyperechogenicity of the affected lung. Neonatal presentation is determined by mediastinal shift which may be corrected by tissue-expander implantation. Associated anomalies require cytogenetic analysis and sequencing of currently known mutations. Long-term follow-up by echocardiography and pulmonary function testing is mandatory in these patients.

Bilateral Diaphragmatic Defect and Associated Multiple Anomalies

Although congenital diaphragmatic hernia is one of the most common congenital anomalies, complete bilateral agenesis of the diaphragm is a very rare congenital malformation and frequently associated with other major anomalies. We report a case of bilateral diaphragmatic agenesis associated with major congenital anomalies. A 2,240-g male infant was born at 35 weeks of gestation to a 34-year-old mother with a history of minimal prenatal care. Polyhydramnios was reported on prenatal level 1 scan. The patient experienced early respiratory distress requiring intubation. Apgar scores were 2/1/1 at 1, 5 and 20 minutes, respectively, and efforts to resuscitate him were unsuccessful. He died at 2 hours of age. Autopsy revealed bilateral diaphragmatic agenesis associated with right pulmonary hypoplasia, left pulmonary agenesis, multiple cardiac abnormalities and gallbladder agenesis. Cytogenetic studies showed normal male karyotype. Bilateral agenesis of the diaphragm is a life-threatening malformation. Survival of these infants often depends on cardiopulmonary function. Bilateral agenesis of the diaphragm associated with gallbladder and unilateral pulmonary agenesis is a rare entity, and its clinical significance needs further investigation.

Mouse mutagenesis identifies novel roles for left–right patterning genes in pulmonary, craniofacial, ocular, and limb development

Vertebrate organs show consistent left-right (L-R) asymmetry in placement and patterning. To identify genes involved in this process we performed an ENU-based genetic screen. Of 135 lines analyzed 11 showed clear single gene defects affecting L-R patterning, including 3 new alleles of known L-R genes and mutants in novel L-R loci. We identified six lines (termed "gasping") that, in addition to abnormal L-R patterning and associated cardiovascular defects, had complex phenotypes including pulmonary agenesis, exencephaly, polydactyly, ocular and craniofacial malformations. These complex abnormalities are present in certain human disease syndromes (e.g., HYLS, SRPS, VACTERL). Gasping embryos also show defects in ciliogenesis, suggesting a role for cilia in these human congenital malformation syndromes. Our results indicate that genes controlling ciliogenesis and left-right asymmetry have, in addition to their known roles in cardiac patterning, major and unexpected roles in pulmonary, craniofacial, ocular and limb development with implications for human congenital malformation syndromes.

Swyer-James Syndrome: X-ray and MDCT findings

A case of Swyer-James syndrome is described with emphasis on multidetector CT (MDCT) findings and the diagnostic value of post-processing techniques. CASE REPORT A 53-year-old woman was referred to our radiology department for the onset of exertional dyspnea since 3 months. Chest X-rays showed reduced left lung volume with diminished vascular markings and hyperinflation of the right lung which was see herniating beyond the midline (Fig.1a) Contrast enhanced MDCT of the thorax was performed on a 16-slice scanner. Review of the axial images and of the multiplanar post-processed reconstructions (Fig. 1b,c) confirmed lung asymmetry and showed increased lucency of the left lung relative to the right. Left bronchial tree was patent with diffuse peripheral bronchiectasis. Left-sided pulmonary arteries were present but showed significantly decreased caliber (Fig. 1d). Radiologic findings were consistent with Swyer-James syndrome (SJS). DISCUSSION SJS is believed to represent the result of postinfectious bronchiolitis obliterans in infancy or early childhood that damages the terminal and respiratory bronchioles preventing the normal development of alveolar buds. [1] This lead to reduced lung volumes in adulthood and air-trapping. Patients may be asymptomatic or may experience cough, chronic pulmonary infections, decreased exercise tolerance, and hemoptysis. Chest x-ray findings consist of a unilateral small lung with hyperlucency and air trapping. CT aids in the differential diagnosis between SJS, bronchial obstruction and congenital vascular anomalies like unilateral pulmonary artery agenesis or scimitar syndrome, showing preserved anatomy of tracheobronchial tree and pulmonary arteries. [23] Currently available post-processing tools improve MDCT diagnostic performances; in particular the combination of multiplanar reformatted images with maximum intensity projection (MIP) is most effective in vascular imaging while minimum intensity projection (minIP) reconstructions help to disclose differences in lung attenuation and depiction of bronchial structures. [4] Figure 1 Figure 1 a. Chest X-rays showing reduced left lung volume and herniation of hyperinflated right lung (arrow) b, c. Axial CT scan and minIP coronal reconstruction reveal hyperlucency of left lung and airways patency. d. Left pulmonary arteries have strikingly decreased caliber on contrast enhanced MIP coronal reconstruction CORRESPONDENCE TO Dr. Tommaso Bartalena. Radiologia III – Pol. S.OrsolaSwyer-James Syndrome: X-ray and MDCT findings 2 of 3 Malpighi, Bologna, Italy. Via Massarenti 9, Bologna, Italy. Phone: +390516363384 Fax: +39051349797 E-mail: t.bartalena@email.it

Pulmonary artery agenesis and Kommerell's diverticulum presenting with hemoptysis

Unilateral pulmonary artery agenesis is a rare congenital anomaly that is commonly associated with additional cardiovascular abnormalities. We report a case of intrapulmonary hemorrhage and hemoptysis in a patient with left-sided pulmonary artery agenesis as well as the first description of this anomaly in a patient with a diverticulum of Kommerell. The patient was successfully treated by performing a left pneumonectomy.

Isolated unilateral pulmonary agenesis: Early prenatal diagnosis and excellent short-term outcome

Isolated unilateral pulmonary agenesis: Early prenatal diagnosis and excellent short-term outcome

Left pulmonary agenesis with single atrium simulating cardiac type of total anomalous pulmonary venous connection

Pulmonary agenesis is rare though not unknown. Factors such as atypical presentation, unknown etiology and frequent misdiagnosis make it a challenging malformation. Familial agenesis has been documented. Left pulmonary agenesis is normal in the snakes. When it occurs in humans, failure of up gradation of genes to the human level is a possibility. An instance of left pulmonary agenesis with an extremely rare association of single atrium, unpublished till date, is reported.

Right lung agenesis

Congenital pulmonary agenesis or aplasia is extremely rare. Although more than fifty percent of patients die before first five years of age, some individuals may remain asymptomatic throughout their life. A three-month-old female child with right pulmonary agenesis presented to us with severe respiratory distress. She was misdiagnosed as a case of foreign body bronchus at the peripheral health centre. Bronchoscopy confirmed the diagnosis and relieved the symptoms. It is recommended that invasive diagnostic procedures and prophylactic surgery should not be done in asymptomatic cases.

Agenesis of lung - A report of two cases

Agenesis of lung is a rare congenital disorder. We are reporting varied degree of pulmonary agenesis in two adult patients.

Tracheomalacia in a Patient with Unilateral Pulmonary and Renal Agenesis

We report the case of an eight-month-old boy with tracheomalacia secondary to impingement by the right pulmonary artery, together with congenital agenesis of the left lung and the left kidney. Aortopexy and right pulmonary arterypexy were successful in improving lung function by more than 100%, and the patient remained free of complications in the long term.

P40.15: Pulmonary underdevelopment: the clues are in mediastinal shift and pulmonary vessels

Pulmonary underdevelopment is usually first suspected in the postnatal period at chest radiography and has been classified according to the degree of bronchial development. However the pulmonary artery ipsilateral branch is usually also affected in a similar fashion. In pulmonary agenesis and aplasia the artery is absent while in hypoplasia there are variable degrees of underdevelopment. Pulmonary agenesis in which bronchus and lung are absent occurs during the embryogenic period and is usually unilateral. More than 50% of children with pulmonary agenesis have other associated congenital anomalies Pulmonary hypoplasia is characterized by the presence of both bronchi and alveoli in an underdeveloped lobe, occurs after the embryogenic period, and can be caused by factors compromising the thoracic space available for lung growth or decreased pulmonary vascular perfusion. Variable degrees of compensatory contralateral lung hypertrophy, mediastinal shift and ipsilateral diaphragm elevation are also usual findings in agenesis-hypoplasia. We have in our institution followed two cases of unilateral pulmonary underdevelopment through gestation. Both women were sent for routine scan at 25 weeks' gestation. The diagnosis was suspected by the mediastinal shift and pulmonary asymmetry. The absence in one case and hypoplasia of pulmonary artery in the other was helpful to confirm the diagnosis. There was no abnornal venous pulmonary return. As pulmonary artery is earlier and more easily seen than bronchial branches in prenatal ultrasound, especially with the aid of color Doppler, the identification of an abnormality of these vessels could be valuable information to reassure the diagnosis.