Risk factors for hemodynamically-unrelated cystic periventricular leukomalacia in very low birth weight premature infants.

BACKGROUND AND PURPOSE: Periventricular leukomalacia (PVL) is one of the most important complications of prematurity, but its cause remains unclear. This study investigated the risk factors for hemodynamically-unrelated cystic PVL in very low birth weight (VLBW) premature infants. METHODS: VLBW premature infants admitted to the neonatal intensive care unit from 1998 through 2002 were included in this retrospective study. Infants who had congenital lethal anomalies or who died before a cranial scan could be done were excluded. All VLBW infants received serial cranial ultrasound examinations to screen for cystic PVL during hospitalization. Infants with cystic PVL were divided into those with or without a hemodynamic event of sufficient severity to potentially cause cystic PVL. The charts of all included infants were reviewed and relevant clinical parameters were analyzed. RESULTS: Cystic PVL occurred in 20 VLBW infants (6.9%) during the study period. Four of these infants (20%) had hemodynamic events before the development of cystic PVL and 16 (80%) had hemodynamically-unrelated cystic PVL. Univariate analysis showed that infants with hemodynamically-unrelated cystic PVL were more likely to have symptomatic patent ductus arteriosus (PDA) [p < 0.01] and bronchopulmonary dysplasia (BPD) [p < 0.01]. However, logistic regression indicated VLBW premature infants with BPD combined with symptomatic PDA (odds ratio, 8.92; 95% confidence interval, 2.55-31.20; p < 0.01) were at greatest risk for development of hemodynamically-unrelated cystic PVL. CONCLUSION: BPD and symptomatic PDA were more common in infants with hemodynamically-unrelated cystic PVL, although the reasons for these associations were unclear. Serial cranial scans are strongly suggested for VLBW premature infants with BPD and symptomatic PDA to screen for the development of cystic PVL.

Clinical manifestations of symptomatic intracranial hemorrhage in term neonates: 18 years of experience in a medical center.

BACKGROUND: Intracranial hemorrhage (ICH) is an uncommon but important cause of morbidity and mortality in term neonates. We conducted a retrospective analysis of the clinical characteristics and developmental outcomes of symptomatic ICH in term neonates. METHODS: A retrospective chart review was conducted of all term neonates (less than 1 month old) diagnosed with ICH and admitted to the neonatal intensive care unit of Kaohsiung Chang Gung Hospital from December 1991 to December 2008. Demographic characteristics, mode of delivery, laboratory data, clinical presentation, and developmental status were recorded. RESULTS: Data for 24 term neonates (17 boys and 7 girls) with a diagnosis of ICH were collected for analysis. The clinical manifestations of ICH included anemia (13/24, 54%), seizure (11/24, 46%), cyanosis (7/24, 29%), tachypnea (5/24, 21%), fever (1/24, 4%), hypothermia (1/24, 4%), and poor feeding (1/24, 4%). Age at symptom onset ranged from 2 hours to 11 days following birth. The most common type of ICH was subdural hemorrhage. All ICHs resolved, except in one infant, who died from hypoxicischemic encephalopathy at 25 days. Ten children with symptomatic ICH were reported to have normal development, while the remainder (13/23, 57%) showed developmental delays or disabilities. CONCLUSION: Unexplained anemia, seizure, and cyanosis were the major presenting signs in infants with symptomatic ICH. A diagnosis of ICH should be considered in term neonates who present with one or more of these signs. Although the mortality in term infants with symptomatic ICH was low, more than half.

Concomitant existence of total bowel aganglionosis and congenital central hypoventilation syndrome in a neonate with PHOX2B gene mutation.

Hirschsprung's disease (HSCR) is characterized by the absence of intramural ganglion cells in the distal gut, resulting in bowel obstruction shortly after birth. Congenital central hypoventilation syndrome (CCHS) results in hypoventilation, most pronounced during sleep, with relative insensitivity to hypercarbia and reduced insensitivity to hypoxia. Congenital central hypoventilation syndrome with HSCR is a rare condition with variable severity. Both CCHS and HSCR are uncommon and their co-occurrence may suggest a common etiology, probably involving a fault of neural crest development. Recent reports have identified the paired-like homeobox 2B (PHOX2B) gene as the major gene for CCHS and HSCR. We report here an identified PHOX2B gene in a newborn baby who had concurrence of CCHS and total colonic aganglionosis with proximal small bowel involvement. Management of this rare disorder is challenging not only because it presents in newborn stage but also because it has extensive HSCR. Considering the issue of medical futility, the therapeutic and ethical dilemma of this infant was discussed.