Index Of Suspicion In The Nursery

Abstract

A 26-year-old healthy gravida 3 woman (with history of two spontaneous pregnancy losses) delivers at term a 2,730-g female infant by normal spontaneous vaginal delivery. The second trimester maternal serum alpha-fetoprotein was elevated, and amniocentesis revealed normal female karyotype. The pregnancy was complicated by oligohydramnios (diagnosed at 20 weeks' gestation) that progressed to anhydramnios by 29 weeks' gestation. Fetal ultrasonography showed bilaterally enlarged echogenic kidneys (Fig. 1) and signs suggestive of a Dandy-Walker variant. Figure 1. Fetal ultrasonography at 20 weeks' gestation showing increased renal echogenicity. At delivery, the Apgar scores are 9 and 9 at 1 and 5 minutes, respectively. The baby develops tachypnea and is transferred to the neonatal intensive care unit on nasal continuous positive airway pressure. Initial physical examination reveals asymmetry of the head and face (right ear pinna “crumpled” and left ear pinna flattened), multiple positional contractures that are predominantly in the upper extremities, and clenched fists. Abdominal ultrasonography shows bilateral echogenic kidneys with small cysts predominantly at the periphery (Fig. 2). Figure 2. Renal ultrasonography showing mildly enlarged, echogenic kidneys with multiple small cysts, predominantly at the periphery. Neurosonography shows bilateral subependymal hemorrhages with small intraventricular hemorrhage and signs suggestive of lissencephaly. Magnetic resonance imaging of the brain confirms these findings. A 4-week-old male neonate presents to the clinic with a history of “noisy breathing since birth.” His mother reports that the noise is unaffected by crying, feeding, agitation, or position. She denies any history of fever, cyanosis, vomiting, choking, diaphoresis, murmur, or seizures. The infant was born at term, weighing 3,600 g, to a primigravida mother via normal vaginal delivery, and there were no perinatal complications. There are no findings of note on family history. The child is gaining weight satisfactorily on formula feedings. On physical examination, the well-nourished infant appears in no apparent distress. His …