A full-term newborn male was admitted to pediatric emergency on day one of life with respiratory distress and dysmorphism, which included radio-ulnar hemimelia, retrognathia, scoliosis, and clinodactyly. Antenatal fetal echocardiography had shown presence of mildly dilated right atrium and right ventricle with the possibility of aortic arch anomaly. Infantogram showed absent radius on right side with hypoplastic radius on left side, multiple digital anomalies in bilateral hands, and multiple segmentation anomalies in the entire spine. Echocardiography was done and it showed the presence of atrial septal defect (ASD), ventricular septal defect (VSD) and patent ductus arteriosus (PDA). However, the arch of aorta and the descending thoracic aorta could not be evaluated due to poor acoustic window. For better delineation of arch anatomy, the child underwent Computed tomography angiography (CTA). CTA confirmed the findings of ASD and VSD. In addition, there was dextrocardia with the heart being placed in the right hemithorax. A band of pulmonary parenchyma was seen extending between the bases of right and left lung between the heart anteriorly and the esophagus and spine posteriorly, thus establishing the diagnosis of horseshoe lung. The right lung was hypoplastic and two blind ending air filled diverticulae were seen arising from trachea at D2-D3 level and D5-D6 level, possibly representing atretic/ rudimentary right-sided bronchi. The bronchus supplying hypoplastic right lung was seen to arise from the left main bronchus suggestive of a bridging bronchus, which was diffusely attenuated in caliber with near complete occlusion in its proximal part near its origin. The main pulmonary artery was dilated. The left pulmonary artery was seen to be coursing anterior to the esophagus behind the left main bronchus, thus confirming the presence of pulmonary arterial sling. The right pulmonary artery was seen arising as a small caliber vessel from the left pulmonary artery and was seen supplying the hypoplastic right lung. Apart from the above findings, there was also presence of coarctation of aorta just distal to the origin of the left subclavian artery for a length of ~6mm with post stenotic dilatation. Considering the various co-existing anomalies on the imaging, a final diagnosis of LACHT syndrome (Mardini-Nyhan association) was made.
SPR 2022 Annual Meeting & Postgraduate Course