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- Tarek Belal, MD*
- Debra-Lynn Day-Salvatore, MD, PhD†
- Shakuntala Chandra, MD‡
- *Department of Pediatrics,
- †Department of Medical Genetics and Genomic Medicine, and
- ‡Division of Neonatology, Department of Pediatrics, Saint Peter’s University Hospital, New Brunswick, NJ
AUTHOR DISCLOSURE
Drs Belal and Chandra have disclosed no financial relationships relevant to this article. Dr Day-Salvatore has disclosed that she has research grant funding for registries and clinical trials from Sanofi Genzyme related to lysosomal storage diseases. She also serves as a lysosomal storage disease expert for Sanofi Genzyme and receives travel reimbursement and honoraria from the company. Dr Belal’s current affiliation is Mount Washington Pediatric Hospital, Baltimore, MD. This commentary does not contain a discussion of an unapproved/investigative use of a commercial product/device.
Presentation
A 38-week, appropriate-for-gestational age boy born to a 31-year-old primagravida mother and a 36-year-old father by emergency cesarean delivery due to failure-to-progress and fetal distress 26 hours after spontaneous rupture of membranes with clear amniotic fluid is admitted electively to the NICU for possible severe bacterial infection as the mother developed an intrapartum fever. Pregnancy was normal. Apgar scores were 9 and 9 at 1 and 5 minutes, respectively. There were no reported exposures to tobacco, alcohol, or drugs. The newborn is asymptomatic on admission. His birthweight is 3,070 g (40th percentile), length is 51 cm (80th percentile), and head circumference is 32.5 cm (20th percentile). His temperature is 98.6°F (37°C), heart rate is 130 beats/min, respirations are 40 breaths/min, oxygen saturation is 99% on room air, and blood pressure is 69/34 mm Hg. Physical examination is notable only for a small right preauricular tag. He shows no dysmorphic features; anterior fontanelle is flat and …
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