Bronchopulmonary Dysplasia (BPD) is a multifactorial disease affecting over 35% of extremely preterm infants born each year. Despite the advances made in understanding the pathogenesis of this disease over the last five decades, BPD remains one of the major causes of morbidity and mortality in this population, and the incidence of the disease increases with decreasing gestational age. As inflammation is one of the key drivers in the pathogenesis, it has been targeted by majority of pharmacological and non-pharmacological methods to prevent BPD. Most extremely premature infants receive a myriad of medications during their stay in the neonatal intensive care unit in an effort to prevent or manage BPD, with corticosteroids, caffeine, and diuretics being the most commonly used medications. However, there is no consensus regarding their use and benefits in this population. This review summarizes the available literature regarding these medications and aims to provide neonatologists and neonatal providers with evidence-based recommendations.
Kagami-Ogata syndrome (KOS) (OMIM #608149) is a genetic imprinting disorder affecting chromosome 14 that results in a characteristic phenotype consisting of typical facial features, skeletal abnormalities including rib abnormalities described as “coat hanger ribs,” respiratory distress, abdominal wall defects, polyhydramnios, and developmental delay. First identified by Wang et al in 1991, over 80 cases of KOS have been reported in the literature. KOS, however, continues to remain a rare and potentially underdiagnosed disorder. In this report, we describe two unrelated male infants with differing initial presentations who were both found to have the characteristic “coat hanger” rib appearance on chest X-ray, raising suspicion for KOS. Molecular testing confirmed KOS in each case. In addition to these new cases, we reviewed the existing cases reported in literature. Presence of polyhydramnios, small thorax, curved ribs, and abdominal wall defects must alert the perinatologist toward the possibility of KOS to facilitate appropriate molecular testing. The overall prognosis of KOS remains poor. Early diagnosis allows for counseling by a multidisciplinary team and enables parents to make informed decisions regarding both pregnancy management and postnatal care.
Streptococcus gallolyticus (SG) is an uncommon cause of neonatal infections. We describe the first case of fulminant lethal neonatal sepsis due to SG reported in literature. Our patient was an extremely low birth weight premature infant that was born to a mother with prolonged rupture of amniotic membranes and chorioamnionitis. We also review the cases of neonatal SG infections reported in literature. Fifty-eight percent neonatal SG infections presented in the first week of life. Importantly, SG meningitis is more commonly reported with early-onset infections compared to group B streptococcal meningitis which is more common with late-onset infections. SG must be included in differential for neonatal sepsis, particularly, in presence of meningitis in first week of life. Most cases are sensitive to penicillin, however, cases of reduced sensitivity to penicillin have also been reported.
The DST gene is located on chromosome 6p and encodes for a large protein. Alternative splicing of this protein produces the neuronal (a1-a3), muscular (b1-b3), and epithelial (e) isoforms. Hereditary sensory and autonomic neuropathy (HSAN) type VI is a rare autosomal recessive disorder due to mutations affecting the a2 isoform. We present a case of HSAN-VI in a male neonate born to consanguineous parents.Genome sequencing revealed a novel homozygous variant (DST_c.1118C > T; p.
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