Novel NKX2.1 mutation associated with hypothyroidism and lethal respiratory failure in a full-term neonate.

We report a case of lethal neonatal hypoxic respiratory failure and hypothyroidism in an infant with a novel missense mutation in NKX2.1.

Outcomes of extremely low birth weight infants given early high-dose erythropoietin.

OBJECTIVE: To evaluate long-term outcomes of 60 extremely low birth weight (ELBW) infants treated with or without three injections of high-dose erythropoietin (Epo). STUDY DESIGN: A retrospective analysis of anthropometric and neurodevelopmental outcome data comparing 30 ELBW infants enrolled in a phase I/II study examining the pharmacokinetics of high-dose Epo (500, 1000 and 2500 U/kg × 3 doses) administered to 30 concurrent controls. RESULT: Birth characteristics and growth from 4 to 36 months were similar for untreated and Epo-treated patients. Multiple linear regression analysis of neurodevelopmental follow-up scores from 17/25 Epo-treated and 18/26 control infants identified that Epo correlated with improvement of cognitive (R=0.22, P=0.044) and motor (R=0.15, P=0.026) scores. No negative long-term effects of Epo treatment were evident. CONCLUSION: Retrospective analysis of the only available long-term follow-up data from ELBW infants given high-dose Epo treatment suggests that Epo treatment is safe and correlates with modest improvement of neurodevelopmental outcomes.

Complications of umbilical artery catheterization in a model of extreme prematurity.

OBJECTIVE: Umbilical artery catheter (UAC) use is common in the management of critically ill neonates; however, little information exists regarding the anatomic and vascular effects of UAC placement in premature newborns. STUDY DESIGN: Baboons were delivered at 125 days of gestation (term=185 days), treated with surfactant, had UACs placed and were ventilated for either 6 or 14 days. Animals were assigned to short-term (6 days, n=6) and long-term (14 days, n=30) UAC placement. At necropsy, aortas were removed with UACs still in place. Histological examination of upper, middle and lower aorta specimens stained with hematoxylin and eosin and immunolabeled to detect smooth muscle (alpha-actin) was carried out in a blinded manner. Controls were delivered at 125, 140 and 185 days and the aortas acquired immediately after birth. None of the non-catheterized control animals (125 days, n=4; 140 days, n=5; and 185 days, n=5) had aortic vessel thrombi or vascular wall abnormalities. RESULT: All 6 animals with short-term (6/6, 100%) and 18 animals with long-term (18/30, 60%) UAC placement displayed aortic thrombi and neointimal proliferation of the vascular wall. The majority (60%) of analyzed animals with UAC placement displaying neointimal hyperplasia were immunopositive for alpha-actin, indicating the presence of smooth muscle in these lesions. CONCLUSION: Our findings suggest that both short- and long-term UAC use is associated with aortic wall pathological abnormalities compared with control animals. This study emphasizes the judicious use and early removal of UACs if possible in order to potentially prevent significant hemostatic and aortic wall vascular complications.

Severe hemolytic disease of the newborn from anti-e.

Maternal antibody-mediated fetal red blood cell destruction secondary to non-D Rhesus (Rh) antibodies is a significant cause of hemolytic disease of the newborn (HDN). Here, we report a rare case of severe HDN associated with maternal antibody to Rh e. In addition to severe anemia, the infant developed thrombocytopenia, conjugated hyperbilirubinemia and cholelithiasis. Resolution of the infant's cholelithiasis occurred following treatment with ursodeoxycholic acid.

Long-distance air medical transport of extremely low birth weight infants with pneumoperitoneum.

OBJECTIVE: Long-distance air transport (LDAT) of infants with pneumoperitoneum for pediatric surgical evaluation has not been previously reported. We examined whether extremely low birth weight (ELBW) infants with and without pneumoperitoneum would tolerate transport differently. STUDY DESIGN: A retrospective cohort study was conducted comparing ELBW infants diagnosed with pneumoperitoneum to other ELBW infants transported>2000 miles by a trained team from a US Department of Defense tertiary care neonatal intensive care unit in Okinawa, Japan. RESULT: Between 2000 and 2006, 49 air transports met study criteria. Seven of the 49 (14%) infants had pneumoperitoneum at time of transport. The average distance flown was 5346 miles per transport. The 49 infants had a median gestational age of 25 weeks and birth weight of 761+/-127 g. ELBW infants without pneumoperitoneum were transported at a median 58 days of life (DOL; range 30 to 91 days) compared to infants with pneumoperitoneum, who were transported at a median 8 DOL (range 6 to 14 days). At the time of LDAT, infants with pneumoperitoneum were significantly smaller, receiving more arterial and central venous access, more pressors for hypotension, and more mechanical ventilation compared to ELBW infants transported without pneumoperitoneum. In-flight patient-related medical issues were similar regardless of underlying diagnosis or age at the time of transport. CONCLUSION: Successful LDAT of ELBW infants, including critically ill infants with intestinal perforation, is possible. Use of personnel, experienced and trained in aviation transport physiology, overcomes the extreme physiologic operating environment associated with LDATs.

A case of hypoplastic left heart syndrome and bicuspid aortic valve in monochorionic twins.

The etiology of hypoplastic left heart syndrome (HLHS) remains unclear. Since a genetic cause for HLHS has not been obvious, it is generally considered to be inherited in a multifactorial manner. Studies of twins are valuable in elucidating the genetic contribution to a birth defect such as HLHS. We report a case of monochorionic twins in whom one has HLHS and the other has a bicuspid aortic valve. Predisposing genetic and environmental influences on individuals with identical genotypes, such as twins, may result in discordance of left-sided flow lesions.