Bilateral Pulmonary Agenesis Research Articles

Bilateral pulmonary agenesis diagnosed in the 13 th week of gestation - a case report and literature review

Bilateral pulmonary agenesis (BPA) is a rare congenital lung malformation incompatible with extra-uterine life, diagnosed by various prenatal imaging modalities in the second and third trimesters. Essentials for diagnosis are complete absence of lungs and bronchi and no pulmonary vascular supply. In the present case, both convex and vaginal ultrasound scan performed at 13th GW revealed an anechoic content in the entire fetal thorax with no evidence of pericardial effusion, fetal heart diseases, or any other accompanying congenital malformations. On three-vessel view (3VV), bifurcation of pulmonary artery could not be identified, which confirmed the diagnosis of BPA. In conclusion, clinical importance of combining the up-to-date technological tools and clinical expertise in establishing the diagnosis as early as in the first trimester allows the clinicians to terminate the pregnancy with the lowest incidence rate of eventual complications related to the procedure. According to the literature data, this is the first and therefore unique case of BPA diagnosed in the 13th week of gestation.

Asymptomatic unilateral pulmonary hypoplasia/agenesis in adults: A report of six cases

Bilateral pulmonary agenesis is incompatible with extrauterine life. Unilateral pulmonary hypoplasia or agenesis is rare, the vast majority of cases presenting in the newborn, infancy, or early childhood, with respiratory symptoms. Pulmonary hypoplasia or agenesis presenting in adults is extremely rare, and the initial chest radiographs may present significant interpretation challenges. We report six patients encountered incidentally in a 10-year period, during which approximately 400,000 routine adult chest radiographs were reported. In all six cases, the chest X-ray films were equivocal, and multidetector computed tomography (CT) was required to settle the diagnosis. The cases are presented to draw the attention of radiologists and physicians to this rarity and to avert the kind of initial errors that we made in interpreting their chest radiographs. The invaluable role of multidetector CT in resolving this potential confusion is emphasized. A brief review of the relevant literature is undertaken.

Bilateral Pulmonary Agenesis: A Rare and Unexpected Finding in a Newborn

Background Bilateral pulmonary agenesis is a rare congenital anomaly incompatible with life that can be missed on routine prenatal screening. Prenatal ultrasound diagnosis of this fatal anomaly can aid in prenatal counseling and postdelivery care.Case Study We report the case of a newborn who was born prematurely at 29 weeks gestation and underwent several unsuccessful intubation attempts immediately after delivery.Conclusion Autopsy examination revealed bilateral pulmonary agenesis with a short, blindly ending trachea.

A novel mutation in two Hmong families broadens the range of STRA6-related malformations to include contractures and camptodactyly.

PDAC (also termed Matthew Wood) syndrome is a rare, autosomal recessive disorder characterized by pulmonary hypoplasia/aplasia, diaphragmatic defects, bilateral anophthalmia, and cardiac malformations. The disorder is caused by mutations in STRA6, an important regulator of vitamin A and retinoic acid metabolism. We describe six cases from four families of Hmong ancestry, seen over a 30 years period in California. These include: (i) consanguineous siblings with a combination of bilateral anophthalmia, diaphragmatic abnormalities, truncus arteriosus, and/or pulmonary agenesis/hypoplasia; (ii) a singleton fetus with bilateral anophthalmia, pulmonary agenesis, cardiac malformation, and renal hypoplasia; (iii) a sibling pair with a combination of antenatal contractures, camptodactyly, fused palpebral fissures, pulmonary agenesis, and/or truncus arteriosus; (iv) a fetus with bilateral anophthalmia, bushy eyebrows, pulmonary agenesis, heart malformation, and abnormal hand positioning. The phenotypic spectrum of PDAC syndrome has until now not included contractures or camptodactyly. Sequencing of STRA6 in unrelated members of families three and four identified a novel, shared homozygous splice site alteration (c.113 + 3_4delAA) that is predicted to be pathogenic. We hypothesize this may represent a unique disease allele in the Hmong. We also provide a focused review of all published PDAC syndrome cases with confirmed or inferred STRA6 mutations, illustrating the phenotypic and molecular variability that characterizes this disorder.

Diagnostic anténatal d’une agénésie pulmonaire bilatérale : une observation exceptionnelle

Bilateral pulmonary agenesis (BPA) is a rare congenital lung malformation. The prognosis is severe as it is incompatible with extra-uterine life. Although multiple prenatal imaging modalities are developed, the prenatal diagnosis of BPA remains problematic. We report a case of BPA observed in our unity and for which the diagnosis was not clearly identified during the evaluation. This report illustrates the need to consider all the imaging aspects and particularly during US examination suspecting BPA.

Recurrent prenatally diagnosed isolated bilateral pulmonary agenesis

Recurrent prenatally diagnosed isolated bilateral pulmonary agenesis

Prenatal Diagnosis of Bilateral Pulmonary Agenesis: a Case Report

We report a case of bilateral pulmonary agenesis (BPA), which was suspected during a prenatal US examination and diagnosed by fetal magnetic resonance imaging (MRI). BPA is an extremely rare congenital anomaly and, although many fetal structural defects can be detected with a high degree of confidence after introducing high-resolution US, the prenatal diagnosis of BPA remains problematic. Other thoracic abnormalities, such as a congenital diaphragmatic hernia, congenital cystic adenomatoid malformation, and pulmonary sequestration, should be excluded from the list of possible diagnoses before coming to the conclusion of BPA, because BPA is absolutely incompatible with extrauterine life, and an accurate internal diagnosis can prevent a futile intervention from being performed.

Liver transplant in a four‐month‐old child with biliary atresia, unilateral pulmonary agenesis, and diaphragmatic hernia: First case report

Bilateral pulmonary agenesis (PA) is a rare embryological defect incompatible with life. Unilateral PA has a wide range of clinical presentations: its prognosis depends on the presence and severity of other associated anomalies. Fetal biliary atresia has been associated with a number of congenital anomalies, but the etiology is still not understood. An unusual case of a child with right PA, right diaphragmatic hernia, and delayed diagnosed biliary atresia leading to liver failure is presented herein. At the age of 4 months the patient was referred to the Transplant Department at Children Healthcare of Atlanta at Egleston with cholestasis and failure to thrive. With a rapidly progressive liver insufficiency, this child was evaluated for liver transplantation. In the absence of any respiratory symptom, the patient received a deceased donor size-matched left lateral segment liver transplant, which covered the diaphragmatic defect, with no further repair required. Twenty-seven months post-transplant, the patient has good graft function, a normal Z-score and is thriving. In spite of the increased physiological and surgical challenges (absence of right lung tissue, hemi-diaphragm, and ectopic position of the liver in the right chest), liver transplantation was performed with positive outcome in this high-risk child. Whether PA, may have developmentally contributed to expression of biliary atresia will need further investigation.

Isolated Unilateral Pulmonary Agenesis

Pulmonary agenesis refers to the total absence of pulmonary parenchyma and blood vessels as well as bronchia beyond the bifurcation. It is classified as bilateral complete agenesis, unilateral agenesis, and lobar agenesis. The anomaly was first described in 1673 by De Pozze as a finding from the autopsy of a woman. Since then, several cases have been reported in the medical literature, yet both unilateral and bilateral pulmonary agenesis are rare congenital malformations. 1 - 3 Bilateral pulmonary agenesis is an exceedingly rare congenital malformation and is incompatible with extrauterine life, 2 whereas unilateral pulmonary agenesis does not result in the death of the infant and is compatible with long-term survival. Its prognosis depends largely on the presence of associated congenital cardiovascular, 3 , 4 gastrointestinal, 5 , 6 or genitourinary 7 malformations. Unilateral pulmonary agenesis has also been reported in association with ipsilateral skeletal anomalies 8 , 9 and nonimmune hydrops fetalis 5 as well as with certain chromosomal deletions (microdeletion 22q11). 1 0 , 1 1 This report documents a case of isolated unilateral pulmonary agenesis diagnosed prenatally in the first trimester of pregnancy by gray scale and color Doppler sonographywith good long-term outcome.

Bilateral pulmonary agenesis: Association with the hydrolethalus syndrome and review of the literature from a developmental field perspective

Only a few cases of bilateral pulmonary agenesis have been reported. Recently we saw such a case in an infant with the hydrolethalus syndrome. This observation seems to indicate that bilateral pulmonary agenesis is a severe expression of a developmental field defect that usually is represented by abnormal lung lobation or hypoplasia. The previously reported cases are discussed from the perspective of the developmental field concept.

Bilateral pulmonary agenesis

Two cases of bilateral pulmonary agenesis in infants of 31 and 41 weeks gestation are reported. In addition to absence of both lungs, major abnormalities not previously reported were also found in other systems. It is concluded that these abnormalities are not due to chromosomal abnormality but no alternative can be offered.

Bilateral pulmonary agenesis, oesophageal atresia, and the first arch syndrome: P. J. DeBuse and G. Morris. Thorax 28:526–528 (July), 1973

Bilateral pulmonary agenesis, oesophageal atresia, and the first arch syndrome: P. J. DeBuse and G. Morris. Thorax 28:526–528 (July), 1973

Bilateral pulmonary agenesis, oesophageal atresia, and the first arch syndrome.

DeBuse, P. J., and Morris, G. (1973). Thorax, 28, 526-528. Bilateral pulmonary agenesis, oesophageal atresia, and the first arch syndrome. This is the case report of an infant born alive with absence of both lungs, atresia of the oesophagus, and the first arch syndrome.