Published on in Neonatology Update
A former 35-week male infant was transferred to the Newborn/Infant Intensive Care Unit (N/IICU) at Children’s Hospital of Philadelphia at 2 months of age for evaluation and management by the team from the Jill and Mark Fishman Center for Lymphatic Disorders. Prenatal history was significant only for a right pleural effusion, for which no prenatal intervention was performed. At birth the infant required mechanical ventilation and a chest tube was placed on the right side. The fluid from the effusion had a lymphocyte count of 96%, consistent with chylothorax. An echocardiogram was performed and showed a bicuspid aortic valve. Prior to transfer a karyotype and microarray were performed, both of which were reported as normal.
The patient was started on high medium chain triglyceride (MCT) formula with Monogen®; however, he had worsening respiratory distress with advancement of feeds. At 5 weeks of age, the infant developed bilateral pleural effusions and required placement of bilateral chest tubes. The chest tubes drained approximately 400 ml of fluid per day for which he received replacement with albumin and fresh frozen plasma. He received a trial of octreotide but it was discontinued due to a lack of improvement. An attempt at pleurodesis with video-assisted thoracoscopic surgery (VATS) was aborted due to clinical instability. Despite medical treatment he continued to have ongoing pleural effusions and worsening respiratory distress, and thus the patient was transferred for diagnostic imaging and intervention.
On admission, the physical exam was notable for downslanting palpebral fissures, proptotic eyes, hypertelorism, flattened nasal bridge, bulbous nasal tip, mild bilateral cubitus valgus, wide-set nipples and hyperconvex nails. Given these physical findings in conjunction with a history of chylothorax, a Noonan Panel was done and confirmed the diagnosis of Noonan syndrome.
One day after admission to the N/IICU, an MR lymphangiogram was performed to map the lymphatic system and identify the abnormality. His MR lymphangiogram (Image 1) revealed abnormal lymphatic perfusion of bilateral hilar, peribronchial and pulmonary interstitial lung fields consistent with pulmonary lymphatic perfusion syndrome. Subsequently he underwent intervention with Lipiodol® (poppyseed oil) injection (Image 2). His effusions gradually resolved and feeds were successfully reintroduced. He was discharged home on room air and full enteral feeds of Monogen with follow-up in the Jill and Mark Fishman Center for Lymphatic Disorders clinic.