Lobar Agenesis Research Articles

Right lobo-isthmic agenesis of the thyroid: A case report

The authors report the observation of a 36-year-old woman with right lobo-isthmic agenesis complicated by an adenoma developed at the expense of the left lobe. The patient presented for many years a presumed cystic nodule developed at the expense of the left lobe, having recently increased in volume. Ultrasound and scannographic studies suggested that the right lobe and isthmus were absent. At cervicotomy, it was a hypoplasia of the right lobe and isthmus. Keywords: Congenital Anomaly; Thyroid; Lobar Agenesis; Clinical Case

Lobar Agenesis of the Lung in a Newborn: A Rare Case Report

Lobar agenesis (LA) of the lung is a very uncommon congenital anomaly. Typically, the presentation is with respiratory symptoms, but the onset is highly variable. LA may be an isolated defect, but is often associated with congenital VACTERL anomalies. Here, we describe a neonate with agenesis of the middle and upper lobes of the right lung.

Bronchopulmonary and vascular anomalies are frequent in children with oesophageal atresia.

Oesophageal atresia is frequently associated with other malformations, and our aim was to use computed tomography (CT) to explore intrathoracic malformations in patients with this condition. This was retrospective study of children aged 0-16 with oesophageal atresia who were born in 1996-2013 and followed up at the French reference centre for rare oesophageal diseases at the University of Lille. Computed tomography scans were available for 48 of the 234 patients during follow-up visits, and these were reviewed by a thoracic radiologist. More than two-thirds of the scans were performed to explore persistent respiratory symptoms. We found that six patients had a pulmonary malformations: four lobar agenesis, one right pulmonary aplasia and one congenital cystic adenomatoid malformation. Computed tomography enabled us to diagnose unexpected thoracic malformations in 16 patients: four lobar agenesis, six arteria lusoria, five persistent left superior vena cava and one partial anomalous pulmonary venous return. It also confirmed the diagnoses of suspected malformations in five patients: one congenital cystic adenomatoid malformation, one pulmonary hypoplasia, two right-sided aortic arches and one communicating bronchopulmonary foregut malformation. Intrathoracic anomalies were frequently associated with oesophageal atresia, and contrast-enhanced chest CT scans should be performed on patients with persistent respiratory symptoms.

DOZ047.40: Bronchopulmonary and vascular anomalies are frequent in children with esophageal atresia

Abstract Introduction Esophageal atresia (EA) is frequently associated with other malformations although few data are available. Objective Describe tracheobronchial, pulmonary and/or vascular malformations in patients with EA using chest CT scans. Methods Monocentric retrospective study in children with EA, born between 1996 and 2013, who had a CT scan during their follow-up, reviewed by a pediatric radiologist. Results Among 234 children with EA, 48 patients underwent a CT scan available for interpretation, among which 69% were performed to explore persistent respiratory symptoms. Thirty-nine children (81%) were type III EA, 13 (27%) had a VACTERL association. Six patients (13%) had a pulmonary malformation: 4 lobar agenesis, 1 right pulmonary aplasia, and 1 congenital cystic adenomatoid malformation. All these patients presented with at least one associated malformation. Combined with the results of laryngotracheal endoscopy (n = 30), 43 patients (90%) had a tracheobronchial anomaly: tracheomalacia for 40 (83%), tracheal stenosis for 12 (25%), right tracheal bronchus for 2 (4%), communicating bronchopulmonary foregut malformation for 1 (2%). Combined with the results of echocardiography (n = 47), 7 patients (15%) had an isolated vascular anomaly, 8 (17%) had an isolated congenital heart disease and 7 (15%) had both. CT scans permitted the diagnosis of 6 pulmonary malformations (13%), 15 tracheobronchial anomalies (31%), and 2 vascular anomalies (4%). Only one patient (2%) in our study presented with an isolated EA. Conclusion Our study confirms the association of tracheobronchial, pulmonary, and vascular anomalies in patients with EA. Contrast-enhanced CT scan is complementary to echocardiography and laryngotracheal endoscopy in the exploration of persistent respiratory symptoms.

Left Upper Lobar Agenesis Associated with Tracheal Trifurcation: A Case Report

Left Upper Lobar Agenesis Associated with Tracheal Trifurcation: A Case Report

Thyroid Hemiagenesis with Agenesis of Isthmus a Case Report

Thyroid gland is an endocrine gland being highly vascular, having two lobes which are connected by an isthmus. Gland is somewhat H shaped in appearance. Thyroid anomalies can be in the form of unilateral lobar agenesis. In this case report, right lobe of the thyroid gland is absent along with the isthmus. The significance lies in the fact that surgeons ought to know about various anomalies of the gland to plan a safe surgery.

Isolated unilateral left upper lobe agenesis causing recurrent pneumonia: A case report

Lung agensis is a rare developmental anomaly. It can range from total bronchial and parechymal agensis to mild pulmonary parenchymal hypoplasia of one or both lungs. A case of lobar agenesis of the left upper lung in a three month old girl causing recurrent chest infection is presented.J Nepal Paediatr Soc 2015;35(2):175-176

Congenital Left Upper Lobe Agenesis: Report of a Case

Lobar agenesis is an extremely rare condition which is characterized by the absence of the lobar pulmonary artery, pulmonary vein, bronchi and parenchyma. Most frequently the affected lobe is the left upper lobe, and patients usually survive to older ages. In the report below we present a case of the left upper lobe agenesis and bronchiectasis of the superior segment of the ipsilateral lower lobe. The thoracic computed tomography scan and fiberoptic bronchoscopy are important diagnostic tools. The patient remained problem-free after the segmentectomy of the bronchiectatic parenchyma.

Congenital Malformation of Hepatic Vasculature in a Patient with In-Utero Thalidomide Exposure

Purpose: 56-year-old generally healthy African American female presented with 2 weeks of nausea and fatigue. She denied any abdominal pain, fever, vomiting, diarrhea or jaundice. Her physical exam was unremarkable. Her past medical history was significant for osteoarthritis, hypertension, ectrodactyly thought to be secondary to thalidomide exposure in utero. She took alcohol occasionally. Her labs revealed elevated transaminases (AST: 555 IU/L, ALT: 671IU/L) without any cholestasis. Work-up for viral hepatitides, autoimmune hepatitis, Wilson's disease, hemochromatosis, storage disorders and α1-antitrypsin deficiency was negative. Abdominal ultrasound showed a 2.7 cm septated cyst in the right hepatic lobe without any evidence of clots in the hepatic vasculature. Magnetic resonance imaging of the abdomen undertaken to assess the hepatic cyst showed a hypoplastic right liver lobe and a triangular T2 hyper-intense wedge shaped area measuring 10 cm. Given the absence of chronic liver disease, hepatocellular carcinoma was considered less likely. The wedge shaped configuration of the liver lesion was suspicious for ischemic injury and hence a triple phase CT of the abdomen was done. It demonstrated a wedge shaped region of contrast enhancement at the posterior liver dome in the setting of perfusion disturbance due to congenitally unusual configuration of the distal hepatic branches of the portal vein. It also confirmed the presence of right lobe hypoplasia and compensatory left lobe hypertrophy. A CT guided biopsy showed extensive hepatocellular injury and numerous hemosiderin laden macrophages suggestive of sub-acute ischemic hepatic injury. A diagnosis of congenital malformation of the right portal vein with ischemic injury of unknown etiology was made. It was postulated that thalidomide exposure may have contributed to the congenital malformation. Discussion: Lobar agenesis of the liver is defined as the absence of liver tissue to the right or left of the gallbladder fossa without prior surgery or disease. Congenital hypoplasia or agenesis of the hepatic lobe is a rare anomaly, diagnosed incidentally and often accompanied by other anomalies of the biliary tree and hepatic vasculature. Its incidence is estimated to be approximately 0.005% of 19,000 autopsy cases. Since 1870, about 65 cases of aplasia or hypoplasia of the right hepatic lobe have been reported in literature. No cases of liver hypoplasia have been reported in association with thalidomide exposure. We describe a very rare case of congenital right hepatic lobe hypoplasia with portal vein malformation in a patient with in-utero thalidomide exposure.

Thyroid Agenesis: A Case Report with Review of Literature

ABSTRACT The thyroid gland, a highly vascular endocrine gland, is composed of two lateral lobes connected by a narrow median isthmus thus giving an ‘H’-shaped appearance to the gland. Congenital thyroid abnormalities mostly include unilateral lobar agenesis, with or without involving the isthmus. We are reporting a case rudimentary right lobe with absence of isthmus. The knowledge of various developmental anomalies of the gland and variations in neurovascular relations will help the surgeon in better planning of a safe and effective surgery. How to cite this article Sthapak E, Gajbe UL, Wanjari SP, Upadhyaya VD, Kumar B. Thyroid Agenesis: A Case Report with Review of Literature. World J Endoc Surg 2012;4(3): 99-101.

Bilobar agenesis of thyroid gland with colloidal change of the isthmus and subclinical hypothyroidism: A case report

Abstract Congenital thyroid abnormalities mostly include unilateral lobar agenesis, with or without involving the isthmus. Here we present only the third case of bilobar thyroid agenesis with residual isthmus as the only functioning thyroid tissue, and the first such case in a pre-pubertal male patient presenting early with a colloid goiter, with features of subclinical hypothyroidism as was evident from his biochemical profile. Subsequent CT scan, followed by radionucleotide scanning revealed hypertrophied isthmus, with empty paratracheal fossae, suggesting the diagnosis as bilobar thyroid agenesis. The child was managed conservatively with thyroxin with encouraging results.

Bilateral Pulmonary Lobar Agenesis: A Case Report

Pulmonary lobar agenesis is a rare entity of developmental anomalies which is usually unilateral. To the best of our knowledge, bilateral lobar agenesis has not yet been reported in the literature. We report a case of lobar agenesis of both upper lobes in a 40-year-old female.

Agenesis of left upper lobe of lung

Agenesis of left upper lobe of lung is very rare and may remain undiagnosed for many years. Lobar agenesis is usually asymptomatic but symptoms may occur if the main bronchus is displaced upwards due to volume loss created by lobar agenesis causing improper drainage of respiratory secretions. We report chronic recurrent cough in a 34-year-old male as an unusual presentation of agenesis of left upper lobe. The left upper lobe was not visualized through computed tomography (CT) of chest. Patent foramen ovale and patent ductus arteriosus were also detected as co-incidental cardiac anomalies. Whenever congenital malformations of lung is suspected, CT of chest is recommended before other invasive procedures like pulmonary angiography is considered.

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.

Congenital pulmonary venolobar syndrome: spectrum of helical CT findings with emphasis on computerized reformatting.

The term congenital pulmonary venolobar syndrome refers to a wide spectrum of pulmonary developmental anomalies that may appear singly or in combination. The main components of congenital pulmonary venolobar syndrome are hypogenetic lung (including lobar agenesis, aplasia, or hypoplasia), partial anomalous pulmonary venous return, absence of pulmonary artery, pulmonary sequestration, systemic arterialization of lung, absence of inferior vena cava, and accessory diaphragm. The recent introduction of multisection helical computed tomography (CT), combined with use of advanced postprocessing graphic workstations, allows improved noninvasive delineation of complex congenital anomalies. A single fast (5-15-second) CT scan now enables the radiologist to (a) generate angiogram-like images of the anomalous pulmonary arteries and veins; (b) demonstrate tracheobronchial abnormalities by generating simulated bronchographic or bronchoscopic images; and (c) depict associated parenchymal abnormalities on axial, coronal, or sagittal images, which once represented an important advantage of magnetic resonance imaging over CT. Multisection helical CT is a helpful diagnostic tool in the preoperative evaluation of patients with suspected congenital pulmonary venolobar syndrome.

Radiographic features of lobar agenesis of the liver.

Our aim was to describe the radiographic features of lobar agenesis of the liver. Six patients with lobar agenesis of the liver, 5 right- and one left-sided, are presented. CT was used to confirm diagnosis. Chest radiography, barium meals, and urograms were also analyzed. In right-sided agenesis, the following were observed: a) hammock or U-shaped deformity of the stomach; b) colonic interposition of the diaphragm (Chilaiditi's syndrome); and c) reversal of the cranial orientation of the colonic hepatic flexure compared to the splenic flexure. The right kidney was higher in position than the left in both right- and left-sided lobar agenesis. Our radiographic findings can provide a multidisciplinary approach in the identification of this anatomic anomaly.

Radiographic Features of Lobar Agenesis of the Liver

Radiographic Features of Lobar Agenesis of the Liver

Supratentorial tumours in infants

Three hundred and ninety-six paediatric (below 15 years of age) patients with brain tumours were treated at our institute in the last 4 years. Eighty-two of the tumours were located supratentorially. These 82 patients included 14 infants (below 1 year of age), who made up 3.5% of all paediatric patients with brain tumours and 17% and those with brain tumours in a supratentorial location. There was a male preponderance, and two-thirds of the 14 patients were within their first 6 months of life. Increasing head size, vomiting and failure to thrive were the common presenting features. One infant presented with asymmetric skull growth. The tumours tended to be large, occupying almost the entire affected cerebral hemisphere; histological types included astrocytomas, malignant astrocytomas, glioblastoma multiforme, primitive neuroectodermal tumours, malignant choroid plexus papillomas and malignant teratomas. Two children had congenital tumours and another two tumours, in children with associated lobar agenesis, were thought to be congenital in origin. Associated hydrocephalus was present in seven patients, but precraniotomy shunt was required in only two patients. The perioperative (within 1 month) mortality was 57%. Only 30% of the patients survived for more than 1 year after surgery and chemotherapy. The longest survival was 20 months. Delay in diagnosis, poor general condition prior to surgery, and the high vascularity and malignant nature of these tumours accounted for the poor results.

Lobar Agenesis of the Liver'Imaging Findings

Lobar Agenesis of the Liver'Imaging Findings

Lobar agenesis of the left upper lung: a case report

Lung agensis is a rare developmental anomaly. It can range from total bronchial and parechymal agensis to mild pulmonary parenchymal hypoplasia of one or both lungs. A case of lobar agenesis of the left upper lung in a 15-year-old boy is presented. The patient had mild exertional dyspnea. Pulmonary angiography revealed the absence of the left upper pulmonary artery and vein. Bronchography showed no branching of bronchus to the left upper lobe. Intravenous pyelography revealed incomplete duplication of the right urinary tract.