Clinical Pediatrics

Dyskeratosis congenita (DC) is a rare, predominantly X-linked multisystemic disorder. It demonstrates a wide spectrum of clinical manifestations and typically presents with dermatologic symptoms during the first decade of life. This review of the literature points out the importance of hematologic and immunologic alterations in defining the course and prognosis of the disease process. Pancytopenia as well as the humoral and cellular disturbances in immunologic functions associated with this disease complex may lead to severe infections that represent the main cause of death. The pathogenesis of DC is still unclear and a curative therapy is presently lacking. Recent reports suggest that a beneficial effect may be observed in the administration of hematopoietic growth factors (G-CSF, GM-CSF) for patients with DC and neutropenia.

We reviewed a consecutive case series of 178 immunocompetent children aged 3-36 months without central venous lines who had blood cultures positive for Streptococcus pneumoniae by either of paired broth and quantitative culture methods. The incidence of accompanying focal infection was significantly greater in patients with >10 colony-forming units (cfu)/mL than in patients with <10 cfu/mL (30.4% vs 12.9% respectively, p=0.04). No significant relationships existed between the magnitude of bacteremia and the age, gender, presenting temperature, interval until the blood culture turned positive, total peripheral blood white cell count, absolute neutrophil count, or absolute band count. Overall, the quantitative method detected 59/178 (33.1%) of the isolates, including five isolates (2.8%) that the broth method failed to detect.

The objective of this study was to see whether outcome of infants of larger birth weight (1,000-1,499 grams) has changed with advances in neonatology. The outcome of infants born in a recent time period (1989-1991) was compared with that of infants born previously, in 1984-1986 and 1979-1981. Univariate analyses were conducted on the association of medical risk factors and date of birth with outcome. More than 90% of infants in each time period were neurologically normal and more than 80% were cognitively normal. Predictor variables were intracranial hemorrhage for poor neurologic outcome and days on oxygen for poor cognitive outcome. We found that neurodevelopmental outcome was stable over three time periods.

A child with basilar artery occlusion in the neonatal period is reported. The occlusion was documented by unenhanced computed tomography performed in the neonatal period demonstrating a “dense” artery at the tip of the basilar artery. The pattern of cerebral damage on MRI scan at 10 years of age confirmed the site of the vascular occlusion. The evidence suggests that embolization was the operating pathogenic mechanism of cerebral vascular occlusion. Neonatal arterial thrombosis involving the carotid circulation has been well documented and may be due to many pathological factors including direct trauma to the carotid artery and embolization from remote sites. Thrombosis of the vertebral artery in the neonate is only rarely reported and only in association with significant cervical trauma. A second child with a similar pattern of cerebral injury demonstrated on neuroimaging is described suggesting that this event may be more common than recognized. The clinical features of basilar artery occlusion as seen in the adult are not apparent in the neonate. Recognition of the neuroimaging characteristics seen in this condition may help to provide the clinician with a reasonable pathogenetic explanation for unexplained cerebral injury.

Nine consecutive end-stage patients with cystic fibrosis (CF) awaiting lung transplantation were admitted to the pediatric intensive care unit (PICU) in respiratory decompensation. They all received noninvasive bilevel positive airway pressure (BIPAP) support and were evaluated to determine whether or not it improved their oxygenation and provided them with long-term respiratory stability. BIPAP was applied to all patients after a brief period of assessment of their respiratory status. Inspiratory and expiratory positive airway pressures (IPAP, EPAP) were initially set at 8 and 4 cm H₂O respectively. IPAP was increased by increments of 2 cm H₂O and EPAP was increased by 1 cm H₂O increments until respiratory comfort was achieved and substantiated by noninvasive monitoring. Patients were observed in the PICU for 48 to 72 hours and then discharged to home with instructions to apply BIPAP during night sleep and whenever subjectively required. Regular follow-up visits were scheduled through the hospital-based CF clinic. The patients' final IPAP and EPAP settings ranged from 14 to 18 cm H₂O and 4 to 8 cm H₂O, respectively. All nine patients showed a marked improvement in their respiratory status with nocturnal use of BIPAP at the time of discharge from the PICU. Their oxygen requirement dropped from a mean of 4.6 ± 1.1 L/min to 2.3 ± 1.5 L/min (P<0.05). Their mean respiratory rate decreased from 34 ± 4 to 28 ± 5 breaths per minute (P<0.05). The oxygen saturation of hemoglobin measured by pulse oximetry, significantly increased from a mean of 80% ± 15% to 91% ± 5% (P<0.05). The patients have been followed up for a period of 2 to 43 months and have all tolerated the use of home nocturnal BIPAP without any reported discomfort. Six patients underwent successful lung transplantation after having utilized nocturnal BIPAP for 2, 6, 14, 15, 26, and 43 months, respectively. Three patients have utilized home BIPAP support for 2, 3, and 19 months, respectively, and continue to await lung transplantation. An acute development of refractory respiratory failure resulted in the demise of the remaining three patients after having utilized BIPAP for 3, 6, and 10 months, respectively. The authors conclude that BIPAP therapy improves the respiratory status of decompensating end-stage CF patients. It is well tolerated for long-term home use and provides an extended period of respiratory comfort and stability for CF patients awaiting lung transplantation.