AJP Reports最新文献

Gastroschisis is a congenital, typically isolated, full-thickness abdominal wall defect in which the abdominal contents, usually only the small intestine, remain outside the abdominal cavity. It is commonly detected on fetal ultrasonography, and has generally excellent survival and outcomes, though these can be decreased in cases of complicated gastroschisis. We present the case of a female infant with a prenatal diagnosis of gastroschisis who required a prolonged and complex resuscitation after delivery. In addition to her gastroschisis, she presented with a history and physical examination consistent with severe hypoxic-ischemic encephalopathy and was treated with therapeutic hypothermia (TH) without further compromise to her bowel. In addition, careful consideration of neuroprotection, fluid status, bowel viability, and hemodynamics were undertaken in her care. She was discharged home on full enteral feeds, with only mild language and gross motor delays at 6 months of age. To our knowledge, there are no reports in the literature of the use of TH in the setting of unrepaired simple gastroschisis.

Maternal syphilis infection is a common infectious cause of nonimmune hydrops fetalis. Generally, hydrops fetalis is equated with poor prognoses in affected pregnancies. A 38-year-old G5P2114 presented at 28 ^5/7 weeks' gestation with newly diagnosed primary syphilis infection, sonographic findings of hydrops fetalis, and elevated middle cerebral artery Dopplers concerning for fetal anemia. Following treatment with intramuscular penicillin, the symptoms of hydrops fetalis were resolved and our patient delivered a healthy male neonate with no signs of congenital syphilis at the time of delivery. Routine and early testing for syphilis is an important component of prenatal care. Though not previously documented, the secondary findings of suspected fetal syphilis may be able to completely resolve in utero with penicillin treatment.

Juvenile xanthogranuloma (JXG) is a benign proliferative histiocytic disorder of the dendritic cell phenotype. It mostly presents in the pediatric age group as a solitary skin lesion. We describe a rare case of an infant born with disseminated JXG who presented with a blueberry muffin rash at birth. A term infant was noted to have multiple petechiae, purple nodules, and macules (1 mm-2 cm in diameter) and hepatosplenomegaly, at the time of birth. Further investigations revealed thrombocytopenia and direct hyperbilirubinemia and a magnetic resonance imaging showed scattered tiny foci of restricted diffusion in multiple areas of the brain. Patient received multiple platelet transfusions in the first few weeks with gradual improvement in thrombocytopenia. Ultimately, a biopsy of one of the lesions revealed the diagnosis of disseminated JXG with notable atypical features. Somatic mutation analysis showed a novel MYH9-FLT3 fusion, but a bone marrow biopsy was negative. The lesions faded over time, relative to patient's growth and normal neurodevelopment was noted at 18 months of age. JXG should be considered in the differentials of blueberry muffin rash in an infant. Although, JXG is mostly a self-limited condition, congenital disseminated JXG may be associated with significant morbidity and mortality.

Idiopathic pulmonary fibrosis (IPF) is a progressive restrictive lung disease. Data on the impact of pregnancy on IPF and maternal outcome is extremely limited. We present the case of a 35-year-old woman, gravida 1 para 0 with familial IPF with no oxygen requirement prior to pregnancy. The patient demonstrated significant deterioration in her lung function beginning at 22 weeks' gestation and underwent hospitalization at 27 ^2/7 weeks gestation due to acute on chronic hypoxic respiratory failure, ultimately requiring delivery at 28 weeks' gestation. The patient has not regained her baseline pulmonary function and remains oxygen dependent at 5 months postpartum. Based on limited available data, significant maternal morbidity and mortality is reported for women with IPF who become pregnant. Key Points Pregnancy outcomes in IPF are more severe than chronic interstitial lung disease due to connective tissue disorders.Deterioration in lung function amongst pregnant women with IPF occurs predominantly in the late second trimester, and lung function does not appear to recover postpartum.Significant maternal morbidity and mortality (40% at 1 year postpartum) is reported for women with IPF who become pregnant.

We report a case of a patient with severe fetal hydrops and refractory ascites, diagnosed as mucopolysaccharidosis type VII (MPS VII) by whole-exome sequencing, and discharged at 5 months of age after long-term ventilatory management. A male neonate was born by emergency cesarean section due to fetal distress at 30 ^1/7 weeks' gestation. Physical examination and X-rays revealed pleural effusion, ascites, and generalized edema, indicating severe fetal hydrops. He underwent tracheal intubation because of respiratory distress that was attributed to massive ascites, pulmonary hypoplasia, and pulmonary hypertension. He received mechanical ventilation and inhaled nitric oxide therapy. Prednisone, octreotide, and a factor XIII preparation were used as the treatment for ascites, and the ascites gradually decreased. He was extubated within 2 months of age. At 4 months of age, the results of whole-exome sequencing of the cord blood showed a compound heterozygous mutation in the GUSB gene, the gene responsible for MPS VII. Enzyme replacement therapy was initiated, and the ascites was resolved. Careful systemic management, including lung-protective respiratory management and the early establishment of nutrition, is important for the long-term survival of infants with fetal hydrops, and early aggressive workup, including whole-genome sequencing for the cause, should be performed in the case of refractory ascites.

Duct-dependent systemic circulation is accompanied by a right-to-left ductal shunt, at least during systole. Although observations of paradoxical continuous left-to-right shunts in duct-dependent systemic circulation have been reported, the mechanism remains unclear. We report a continuous left-to-right ductal shunt throughout the cardiac cycle during the initial recovery phase from circulatory collapse and right ventricular (RV) dysfunction due to ductal closure in an infant with hypoplastic left heart and severe aortic coarctation. Further recovery improved his RV function and changed the ductal flow from continuous left-to-right to bidirectional, which is usually seen in duct-dependent systemic circulation. Marked RV dysfunction may contribute to the continuous left-to-right ductal shunt. A continuous left-to-right ductal shunt should not be used to rule out duct-dependent systemic circulation.

The objective were to: (1) evaluate associations between food security and women diagnosed with gestational diabetes mellitus (GDM) and (2) evaluate if women in food insecure (FI) households had adverse maternal and neonatal outcomes. This was an observational study from October 2018 until September 2019. Postpartum resident clinic patients who delivered term, singleton infant at 37 weeks' or longer gestation were screened. Participants completed a survey using the U.S. Household Food Security Survey Module (US HFSSM). Survey responses were classified as: food secure (FS) and FI (marginal, low, very low FS). The primary outcome was GDM. Our secondary outcome was neonatal intensive care unit (NICU) admissions for hypoglycemia. We evaluated the rate of GDM in FS and FI groups. Demographic data included: prepregnancy body mass index, total weight gain during pregnancy, birth weight, and mode of delivery. A logistic regression model was used to analyze the association between food insecurity and GDM. A p -value of less than 0.05 was considered statistically significant. There were 150 patients screened to participate; of these, 70 patients were enrolled (36 GDM and 34 without GDM [NGDM]). More patients in FI households, 71% ( n  = 17), were diagnosed with GDM, compared with 33% ( n  = 15) in the FS (FS) households (adjusted odds ratio 7.05; p  < 0.01). Of patients who reported FI, 50% ( n  = 12) were black, 46% ( n  = 11) Hispanic, and 4% ( n  = 1) Caucasian, compared with 13% ( n  = 6) black, 30% ( n  = 14) Hispanic, and 57% ( n  = 26) Caucasian in patients who reported FS ( p  < 0.001). Although not significant, 25% ( n  = 6) of neonates from an FI household had an NICU admission for hypoglycemia compared with 7% ( n  = 3) from an FS household ( p  = 0.054). Pregnant women with GDM are more likely to experience FI than those with NGDM. Infants of mothers in FI households also had increased rates of NICU admission for hypoglycemia.

Early-onset neonatal sepsis contributes substantially to neonatal morbidity and mortality. Presenting signs and symptoms vary, and most causes are due to a limited number of common microbes. However, providers must be cognizant of unusual pathogens when treating early-onset sepsis (EOS). We report a case of a term neonate who presented with respiratory distress, lethargy, and hypoglycemia 5 hours after birth. He was treated for presumed EOS with blood culture, revealing an unusual pathogen, Pasteurella multocida . Sepsis from this pathogen is a rarely reported cause of early onset neonatal sepsis. Our report is one of few that implicate vertical transmission with molecular diagnostic confirmation of P . multocida , subspecies septica. The neonate was treated with antibiotics and supportive care and recovered without ongoing complications. Providers should maintain an index of suspicion for rare causes of neonatal EOS. For these unusual cases, precise microbial identification enables understanding to provide best clinical care and anticipation of complications.

Arhinia is a rare congenital anomaly that is not typically associated with known genetic mutations and is usually discovered after an affected infant is born. Prenatal diagnosis is important because neonates with arhinia often require specialized respiratory support with creation of an artificial airway. We present a case of isolated arhinia diagnosed on second-trimester ultrasound. A patient presented for routine ultrasound at 18 weeks gestation, and nasal tissues were absent in an otherwise morphologically normal appearing fetus. Cell free fetal DNA was unremarkable. The patient elected to undergo termination of pregnancy by dilation and evacuation. Subsequent genetic analysis confirmed a normal fetal karyotype and microarray, and no examination of fetal structural anatomy was possible. Antenatal diagnosis of arhinia is important to guide maternal-fetal care decisions and requires methodical sonographic evaluation to identify this malformation prior to delivery.