A novel termination site in a case of Stüve-Wiedemann syndrome: case report and review of literature.

Stüve-Wiedemann syndrome (SWS) is a rare autosomal recessive disorder that is characterized by bowing of long bones, dysautonomia, temperature dysregulation, swallowing and feeding difficulties, and frequent respiratory infections. Respiratory distress and hyperthermic events are the leading causes of early neonatal death, and most patients are not expected to survive past infancy. Here, we report on the survival of a 5-year-old male with SWS, discussing his case presentation, providing a brief clinical course, and discussing the outcome. This case adds to the literature surrounding rare instances of childhood survivors of SWS and raises awareness for this syndrome to facilitate an earlier recognition, intervention, and genetic counseling for the families, thereby improving understanding of this disease and the health outcomes for the children affected by this condition.

Unilateral Lung Agenesis: A Case Series and Review of Literature.

Unilateral lung agenesis is a rare congenital abnormality that typically presents with respiratory distress after birth. Prognostic factors include the side of the lung affected along with the presence or absence of other congenital abnormalities. Prenatal imaging can make the diagnosis that can assist the healthcare team in preparing to care for the neonate, as well as set expectations for the family. In this case series, we describe three cases of unilateral lung agenesis, two infants with right lung agenesis, and one with the left. We describe their presentation, provide a brief clinical course, and discuss outcomes.

Platelet parameters as biomarker for bronchopulmonary dysplasia in very low birth weight neonates in the first two weeks of life.

BACKGROUND: The pathogenesis of bronchopulmonary dysplasia (BPD) is attributed to the arrested lung development in premature infants. Studies showed the negative impact of inflammatory markers on the developing lung with higher levels of IL1, 6 and 8. Platelets contribute to the acute phase response of inflammation and are a direct source of IL-1ß. METHODS: We conducted a retrospective data review of all preterm babies with gestational age (GA) <32 weeks admitted to NICU to assess the relationship between platelet parameters in the first 2 weeks of life with the incidence and severity of BPD in very low birth weight (VLBW) neonates. RESULTS: Of 114 screened newborns, 92 were included after exclusion criteria. Of these, 62 (67.3%) developed BPD. Mean platelet count (PC) (P=0.008) and mean platelet mass index (PMI) (P=0.027) were significantly lower and mean platelet volume (MPV) (P=0.016) was significantly higher in the BPD group. The highest difference between groups was observed at 2nd week of life for PC and PMI and at 1st week for MPV. Using multivariate logistic analysis, only PC (P=0.017) showed statistical significance. MPV and PMI showed a positive interaction but did not achieve significance (P=0.066 for both). CONCLUSIONS: We concluded that platelet parameters in the first 2 weeks of life were associated with the incidence of BPD in VLBW neonates. PC may also predict the severity of BPD in these infants.