A Newborn With Hydrops, Hydrocephalus, and Ophthalmologic Abnormalities.

Abstract

A male infant was born at an estimated gestational age of 34-3/7 weeks to a 24-year-old G3P2A0 mother, with unknown group B Streptococcus carriage status, immunity to rubella, and negative serologies for hepatitis B, syphilis, and human immunodeficiency virus (HIV). Pregnancy was complicated by fetal hydrops, initially detected by ultrasound 3 weeks prior to delivery. Prenatal magnetic resonance imaging (MRI) detected severe polyhydramnios, fetal hydrocephalus, and hydrops with ascites. Evaluation at that time also included a normal karyotype and negative Coombs test. The mother presented to our center in active labor, and Caesarian section was performed. Artificial rupture of membranes at the time of delivery revealed a large amount of clear fluid. The infant initially had a weak cry and was intubated in the delivery room, and he was transferred to the Neonatal Intensive Care Unit. Apgar scores were 6 at 1 minute and 7 at 5 minutes. The mother lives in St. Louis with her 2 children. She denied pets, animal exposure, travel outside of Missouri, and exposure to sick contacts or to raw or exotic foods. She also denied fevers, diarrhea, headaches, or other illnesses during her pregnancy. Birth weight was 3060 grams (>97th percentile for gestational age), length was 46 cm (50th percentile), and head circumference was 30 cm (10th percentile). Temperature was 36.7°C, heart rate 182/min, respiratory rate 49/min, and blood pressure 96/74 mmHg; oxygen saturation was 95% in room air. On examination, the infant was orally intubated and had spontaneous movements and normal tone. The anterior fontanelle was soft with sutures widely spaced. Red reflexes were absent bilaterally, and a detailed ophthalmologic examination subsequently revealed bilateral cataracts and bilateral retinal colobomas involving the macula. The abdomen was soft but distended; no organomegaly was appreciable. He had significant inguinal and scrotal edema. There were no rashes or skin lesions. The remainder of the physical examination was unremarkable. Complete blood count was notable for thrombocytopenia (81000/µL); chemistry panel was normal (glucose was 42 mg/dL), and liver enzymes were normal (alanine