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A6688 - Spontaneous Chylothorax in an Adult with Noonan Syndrome
Author Block: R. Baalachandran1, M. Paparo1, A. Sachdeva2, E. Pickering3; 1Division of Pulmonary and critical care medicine, Univ of Maryland Med Ctr, Baltimore, MD, United States, 2Division of Pulmonary and Critical Care, Univ of Maryland Med Ctr, Baltimore, MD, United States, 3Univ of Maryland Med Ctr, Pulm/Crit Care Div, Baltimore, MD, United States.
Introduction: Spontaneous chylothorax is a rare condition and has been described in children with Noonan syndrome. We report a rare case of spontaneous chylothorax presenting in adulthood which resolved with thoracentesis. Case Report: A 67-year-old gentleman with Noonan syndrome presented to the hospital with worsening dyspnea on exertion for 6 months. He also complained of loss of appetite without loss of weight and bilateral leg swelling. He underwent pulmonary valvotomy for pulmonary valve stenosis 10 years before presentation. He was on amiodarone for frequent ventricular ectopy and atrial fibrillation. Vitals signs were normal except for mild tachycardia. On examination, decreased air entry over right hemithorax and bilateral pedal edema were noted. CT scan of the chest showed large right pleural effusion. An echocardiogram 2 months prior to presentation revealed bi-atrial enlargement, preserved left ventricular function, moderate right ventricle dilatation with mildly impaired function, moderate tricuspid and pulmonary regurgitation. Ultrasound guided thoracentesis was performed and 1700 ml of milky appearing fluid was drained. Pleural fluid analysis revealed exudative effusion and triglyceride level of 201 mg/dl. Thyroid function tests were normal and no other evidence of malignancy was observed. Patient reported significant improvement in symptoms after thoracentesis and no evidence of recurrence in chest radiograph 4 weeks later. He indicated a sustained response 6 months post-procedure during cardiology clinic visit. Discussion: Noonan syndrome is characterized by presence of facial anomalies, webbed neck, congenital heart defects and mental retardation. Lymphatic dysplasia and hypoplasia is present in 20% of the patients causing obstruction, lymphangiectasia and retrograde flow of lymph into tissues. Usually it presents as peripheral lymphedema. Rarely, it causes chyloperitoneum and chylothorax due to dysplasia of intestinal and pulmonary lymphatics respectively. Spontaneous chylothorax is commonly seen in first 2 years of life, but patients carry lifelong risk of developing chylothorax after thoracic surgery.Our patient had an uncomplicated cardiac surgery 10 years before presentation, making it an unlikely etiology and he had no prior chylous effusions. Treatment includes repeated thoracentesis, chest tube drainage, medium triglyceride diet, total parenteral nutrition and thoracic duct ligation. The suitability for thoracic duct embolization (TDE) can be assessed using Magnetic resonance (MR) lymphangiography. Our patient did not have recurrence for six months after thoracentesis. Conclusion: Cardiac cause is the usual suspect for dyspnea in adults with Noonan syndrome. We report an unusual case of adult Noonan syndrome patient presenting with dyspnea due to spontaneous chylothorax.