Jui-Ming Hu

Efficacy of intermediate-dose oral erythromycin on very low birth weight infants with feeding intolerance.

BACKGROUND Erythromycin is generally used as a prokinetic agent for the treatment of feeding intolerance in preterm infants; however, results from previous studies significantly vary due to different medication dosages, routes of administration, and therapy durations. The effectiveness and safety of intermediate-dose oral erythromycin in very low birth weight (VLBW) infants with feeding intolerance was examined in this study. METHODS Between November 2007 and August 2009, 45 VLBW infants with feeding intolerance, who were all at least 14 days old, were randomly allocated to a treatment group and administered 5mg/kg oral erythromycin every 6hours for 14 days (n=19). Another set of randomly selected infants was allocated to the control group, which was not administered erythromycin (n=26). RESULTS The number of days required to achieve full enteral feeding (36.5±7.4 vs. 54.7±23.3 days, respectively; p=0.01), the duration of parenteral nutrition (p<0.05), and the time required to achieve a body weight ≥2500g (p<0.05) were significantly shorter in the erythromycin group compared with the control group. The incidence of parenteral nutrition-associated cholestasis (PNAC) and necrotizing enterocolitis (NEC) ≥ stage II after 14 days of treatment were significantly lower (p<0.05) in the erythromycin group. No significant differences were observed in terms of the incidences of sepsis, bronchopulmonary dysplasia, or retinopathy of prematurity. No adverse effects were associated with erythromycin treatment. CONCLUSIONS Intermediate-dose oral erythromycin is effective and safe for the treatment of feeding intolerance in VLBW infants. The incidences of PNAC and ≥ stage II NEC were significant lower in the erythromycin group.

Common Etiologies of Neonatal Pleural Effusion

BACKGROUND Pleural effusion is rare and includes several disease entities in the neonatal period. The aim of this study was to investigate the etiology, management, and outcome of neonatal pleural effusions. METHODS We retrospectively collected all neonates who were admitted to the neonatal intensive care unit of Chung Shan Medical University Hospital, Taichung, Taiwan, with discharge diagnosis of pleural effusion, chylothorax, hydrothorax, hemothorax, and empyema, from January 1999 to December 2009. The characteristics, etiology, management, and outcome were analyzed. RESULTS There were 21 patients identified, 16 males (76%) and 5 females (24%). Eight patients (38%) had primary and 13 patients (62%) had secondary etiologies. The etiologies included four parapneumonic effusions or empyema (19%); nine chylothorax (42.8%) with four congenital and five iatrogenic after thoracic surgery; three percutaneously inserted central venous catheter extravasation (14%); one umbilical venous catheter extravasation (4.7%); three hydrops fetalis (14%); and one congestive heart failure (4.7%). Fifteen patients (71%) needed chest tube placement. Conservative management with complete cessation of enteral feedings and use of total parenteral nutrition followed with infant formula containing medium-chain triglyceride was successful in six of the patients (67%) with chylothorax. There were two patients (22%) with chylothorax who received somatostatin administration; one was successful and the other one failed. Thoracic duct ligation was performed uneventfully in two patients with acquired chylothorax. There were three mortalities (14.3%) in this study, which were related to causes other than pleural effusion. CONCLUSIONS Pleural effusions in the neonatal stage may result from chylothorax, hydrops fetalis, extravasation of percutaneously inserted central venous catheter, parapneumonic effusion, congestive heart failure, or other less frequently occurring conditions. Diagnostic chest tap is required for subsequent management. Good outcome is the rule except in hydrops fetalis, which carries high mortality rate.

Hydranencephaly Associated with Interruption of Bilateral Internal Carotid Arteries

Hydranencephaly is a rare and fatal central nervous system disorder where all or nearly all of the bilateral cerebral hemispheres are absent. The extensive hollow cerebrum is replaced with cerebrospinal fluid. Clinically, the differential diagnoses of hydranencephaly include severe hydrocephalus and alobar holoprosencephaly. Nearly all cases are sporadic, involving approximately 1 in 5000 continuing pregnancies. The exact main cause is still unknown, but hydranencephaly is usually found to develop secondarily to the occlusion of cerebral arteries above the supraclinoid level. We present the case of a 1-month-old male infant with hydranencephaly initially thought to be severely hydrocephalus via routine antenatal intrauterine sonography performed at 35 weeks of gestation. Hydranencephaly was confirmed by brain sonography, brain magnetic resonance imaging and magnetic resonance angiography postnatally. We discuss several imaging features that are helpful in distinguishing hydranencephaly from extreme hydrocephaly. Different theories that have been recently proposed regarding the origin of hydranencephaly are reviewed.

Posthemorrhagic hydrocephalus in newborns: clinical characteristics and role of ventriculoperitoneal shunts.

BACKGROUND The incidence of neonatal intraventricular hemorrhage (IVH) does not decrease even after using a surfactant and advanced intensive care. Posthemorrhagic hydrocephalus (PHH) is major complication after IVH. The roles of the ventricuLoperitoneal (VP) shunt and the prognostic factors of neurodevelopmental outcomes in infants with PHH remain controversial. We compared the neurodevelopmental outcomes in newborns with and without VP shunts to delineate the clinical characteristics of patients with PHH and to determine the useful prognostic factors of short-term outcomes and neurodevelopmental results at a corrected age of more than 1 year old. METHODS We retrospectively reviewed the records of 83 cases of neonatal IVH, grades 2-4. Thirty (36%) of the cases were complicated with PHH. We classified survivors into four groups by outcome-normal, mildly abnormal, moderately abnormal, and severely abnormal-to compare prognoses. RESULTS Among the 30 PHH cases, 10 patients died during their first admission (early deaths), and four died after their first discharge (late deaths). We found no statistically significant differences in gestational age, birth weight, gender, the maximum number of red blood cells in cerebral ventricular fluid, the lowest glucose levels, or total protein. Patients with grade 3 IVH were more likely to have shunts than were patients with grade 2 IVH. Patients with shunts had more late deaths and fewer normal neurodevelopmental outcomes than those without shunts. CONCLUSION Patients who were shunt-dependent had worse neurodevelopmental outcomes and greater mortality than those without shunts. The results appeared to depend on how far the hydrocephalus had progressed and on the degree of IVH, but the necessity of VP shunts requires reevaluation before they are implanted.

Trisomy 18 Syndrome with Incomplete Cantrell Syndrome

The pentalogy of Cantrell was first described in 1958 by Cantrell and coworkers, who reported five cases in which they described a pentad of findings including a midline supraumbilical thoracoabdominal wall defect, a defect of the Lower sternum, abnormalities of the diaphragmatic pericardium and the anterior diaphragm, and congenital cardiac anomalies. Trisomy 18 has an incidence of about 0.3 per 1000 newborns. We present a case of trisomy 18 with incomplete Cantrell syndrome. The patient presented with hypogenesis of the corpus callosum, vermian-cerebellar hypoplasia (Dandy-Walker variant), ventricular septal defect, dextrocardia, patent ductus arteriosus, a defect of the lower sternum, a midline supraumbilical abdominal wall defect with omphalocele, congenital left posterior diaphragmatic hernia (Bochdalek hernia), micrognathia, low-set and malformed ears, rocker-bottom feet, dorsiflexed hallux, hypoplastic nails, short neck, and wrist deformity. Trisomy 18 syndrome was unusually combined with the pentalogy of Cantrell. We present this case because of its rarity and high risk of mortality.

Ocular Findings in a Case of Trisomy 18 With Variant of Dandy-Walker Syndrome

Trisomy 18 is the second most common chromosomal syndrome and has multiple dysmorphic features. However, ocular findings in trisomy 18 are rarely reported. Retinal folds are the most common ocular finding described to date, although retinal hypopigmentation, dysplasia, and areas of hemorrhage and gliosis are also found in trisomy 18. Dandy-Walker syndrome is a brain malformation that has been reported in association with numerous chromosomal abnormalities, although it has rarely been reported in association with trisomy 18. Here, we present a case of trisomy 18 with ocular pathology and variant of Dandy-Walker syndrome, a combination that has not previously been reported.

Pfeiffer-like Syndrome With Holoprosencephaly: A Newborn With Maternal Smoking and Alcohol Exposure

We report the case of a female infant with Pfeiffer-like syndrome and holoprosencephaly. She had a cloverleaf skull, ocular proptosis, broad thumbs and halluces, and variable accompanying anomalies compatible with Pfeiffer syndrome. She also displayed microcephaly, short palpebral fissures, and a smooth philtrum, which are clinical signs consistent with fetal alcohol syndrome. She suffered from multiple congenital anomalies and died at 41 days of age. Cardio-pulmonary failure, brain abnormalities, prematurity, and multiple complications contributed to her death. The patient displayed normal chromosomal numbers and type. DNA analysis did not reveal fibrobtast growth factor receptor (FGFR) genes FGFR1, FGFR2, FGFR3 or TWIST gene mutations. We review the previous reports of Pfeiffer syndrome and holoprosencephaly and describe our infant patient with Pfeiffer-like syndrome, holoprosencephaly, and heavy in utero maternal alcohol and smoking exposures.

Congenital Myotubular Myopathy With a Novel MTM1 Gene Mutation in a Premature Infant Presenting With Ventilator Dependency and Intrahepatic Cholestasis

Myotubular myopathy is a rare congenital disease characterized by hypotonia and respiratory compromise at birth in affected males. It causes high neonatal mortality. Most surviving newborns need prolonged ventilation and have significantly delayed motor development. Although all patients with congenital myotubular myopathy have respiratory problems such as atelectasis and recurrent lung infections, concurrent neonatal intrahepatic cholestasis is rare. We report a newborn with a myotubular myopathy, ventilator dependency, recurrent lung infections and pleural effusion, facial diplegia, ophthalmoplegia, and progressive intrahepatic cholestasis. A genetic study showed a novel mutation of the MTM1gene: c.1142 G>A (R381Q). We suggest that physicians consider probable concurrent disorders of other organs in neonates with congenital myotubular myopathy.

Transthyretin levels are not related to Apgar score in low birth weight and very low birth weight infants.

BACKGROUND Previous studies have reported an increased incidence of thyroid dysfunction in premature/low birth weight infants. The cord blood concentrations of transthyretin (TTR), a thyroid hormone binding protein, have also been found to be decreased in preterm infants. While thyroid hormone concentrations are decreased in sick infants, it is not known if physical condition influences TTR levels. Serial concentrations of TTR following birth have not previously been reported. AIMS To measure serial serum concentrations of TTR in premature infants following birth, and determine whether TTR levels are related to physical condition. METHODS A cohort of 65 premature very low birth weight (VLBW) and LBW infants were studied. Serum samples were obtained on the day of birth, and for 8 weeks following birth. Apgar scores at birth as well as the incidence of respiratory distress syndrome (RDS) were noted. RESULTS Baseline serum T4 concentrations and Apgar scores were significantly lower in VLBW infants, while the severity of RDS was significantly higher in the VLBW group. Multivariate analyses revealed that T4 levels were negatively associated with RDS, while TSH concentrations were positively related to gestational age. TTR concentrations were not related to gestational age at birth, Apgar score, or RDS, and did not change markedly over 8 weeks. CONCLUSIONS These findings suggest that serum TTR concentrations are not related to birth weight/gestational age and are not associated with either clinical condition at birth (as assessed by Apgar score) or the occurrence of RDS. Reference values for TTR concentrations in VLBW and LBW infants are provided from birth to 8 weeks of age.

Goldenhar syndrome (oculoauriculovertebral dysplasia): report of one case.

Goldenhar syndrome, also known as oculoauriculovertebral dysplasia, is an uncommon condition, characterized by a combination of anomalies: epibulbar dermoids or lipodermoids, preauricular appendices, malformation of the ears, hemifacial microsomia, vertebral anomalies, and others. The etiology of this disease has remained unclear; factors including chromosomal abnormalities, maternal diabetes mellitus or drug use, and influence of environment during pregnancy have been proposed. Here, we describe a case of Goldenhar syndrome in a 1-day-old female newborn, who presented with right external ear atresia, left preauricular appendices, cleft-like extension of the right oral angle, mandibular hypoplasia and relatively small hands. The literature on Goldenhar syndrome is briefly reviewed.