Two Cases of Rotor Syndrome in Siblings / 소아과

Rotor syndrome is a rare benign familial disorder characterized by chronic, fluctuating, nonhemolytic and predominantly direct bilirubinemia with normal liver tissue. We have recently experienced two cases of Rotor syndrome in a brother and sister. They revealed icteric sclerae with mild hepatomegaly in physical examination. Laboratory findings showed increased serum bilirubin with direct bilirubin predominance. The urinary excretion of total coproporphyrin was slightly elevated. The 99mTc-DISIDA scan showed a markedly decreased hepatic uptake and poor visualization of gallbladder and biliary tree which could be compatible to the Rotor syndrome. We report two cases with a review of the literature.

A Case of Congenital Nasal Piriform Aperture Stenosis (CNPAS) / 소아알레르기및호흡기학회지

The congenital nasal piriform aperture stenosis (CNPAS) is a rare cause of neonatal airway obstruction and could be easily mistaken as the choanal stenosis or atresia. The piriform aperture is a term used to refer to the anterior nasal openings. The nasal airway obstruction in the neonate can result in respiratory difficulties and may be going to life threatening consequences. Computed tomography demonstrates in detail the underlying anatomic abnormalities which allows differentiation of the CNPAS from other upper airway abnormalities. We reported a case of CNPAS, a 1-month-old male infant presented with respiratory difficulties. Shortly after birth, he had mild respiratory difficulties and there was difficulty passing a nasal catheter intranasally. But he was improved through only conservative management and discharged at the age of 5 days. At the age of 1 month, CT scan revealed bilateral CNPAS.

A Case of Idiopathic Neonatal Chylothorax

Chylothorax is the most common cause of pleural effusion in the neonatal period and is defined as an effusion of lymph in the pleural cavity. We report a case of chylothorax in 8-day-old male who was admitted due to respiratory difficulty. Chest AP roentgenogram showed pleural effusion of the left lung, and milky yellow fluid was aspirated via thoracentesis. Diagnosis was confirmed by chemistry studies of pleural lipid and lipoprotein electrophoresis. Chyle obtained from pleural space was diagnosed by their high triglyceride levels and the finding of chylomicrons on lipid electrophoresis. He was treated by thoracentesis, chest tube insertion, feeding with formulas containing medium-chain triglyceride and total parenteral nutrition without oral feeding. He was discharged on the 45th hospital day in good health.