Case 27-2014: A 10-month-old boy with microcephaly and episodic cyanosis

摘要

Dr. Kai-How Farh (Pediatrics): A 10.9-month-old boy with microcephaly and developmental delay was admitted to this hospital because of episodes of cyanosis.The patient was born at another hospital after 39 weeks of gestation to a 36-year-old multigravida who had received prenatal care. Prenatal ultrasonography reportedly revealed mild hydronephrosis. Labor was induced because of maternal hypertension. Apgar scores were 8 and 9 at 1 and 5 minutes, respectively. On examination, microcephaly was noted; there were no dysmorphic features. The weight was 2.9 kg (13th percentile), the length 50.8 cm (60th percentile), and the head circumference 29.5 cm (<1st percentile) (Fig. 1 in the Supplementary Appendix, available with the full text of this article at NEJM.org). Results of the Massachusetts Newborn Screening Panel, which can identify more than 60 disorders, were normal.