CHARGE syndrome patient with novel CHD7 mutation presenting with severe laryngomalacia and feeding difficulty.

We report a case of CHARGE syndrome with atypical phenotype and a novel mutation in the CHD7 gene. Laryngomalacia and swallowing difficulties are prominent features in this case. These are commonly found in patients with CHARGE syndrome and are well described in previous studies. However, with the traditional diagnostic criteria, diagnosis is difficult without the presence of coloboma or choanal atresia. Early diagnosis is possible with the aid of clinical genetics. The current diagnostic criteria would need to be broadened with the inclusion of pathogenic CHD7 variant status as a major criterion. Further research on the function of CHD7 gene may also give us more insight on the pathogenic mechanism of various clinical features of CHARGE syndrome.

Changes in Mortality and Cerebral Palsy in Extremely Low-Birth-Weight Infants in a Tertiary Center in Hong Kong.

Introduction. We retrospectively reviewed a cohort of extremely low-birth-weight (ELBW) babies born at Queen Mary Hospital and explored if there is any time trend in survival and short-term neurodevelopmental outcomes. Methods. We included ELBW infants born at Queen Mary Hospital between 2008 and 2015. The relationships between multiple risk factors with survival and neurodevelopmental outcomes were analyzed by either Cox regression or univariate logistic regression analysis. We also compared this birth-year period with our previous study from 1993 to 2002. Results. Two hundred seventeen ELBW infants were delivered during the study period. There was significantly higher overall survival rate (81.1%) in 2008 to 2015 compared with 71.4% in 1993 to 2002. One hundred forty-three out of 176 (81%) survivors were assessed at a corrected mean age of 18.1 months. A total of 4.2% had cerebral palsy. There were significantly lower rates of cerebral palsy in 2008 to 2015 (4.2%) compared with 1993 to 2002 (13.5%). Conclusions. We showed a temporal improvement in survival and short-term neurodevelopmental outcomes.

Rare combination of left-sided congenital diaphragmatic hernia and omphalocele.

We reported a rare case of left-sided posterolateral congenital diaphragmatic hernia (CDH) and omphalocele, which is not associated with chromosomal abnormalities or other syndromes. Omphalocele was detected antenatally (CDH was not detected in antenatal ultrasound). The patient suffered from respiratory failure secondary to severe pulmonary hypertension. As the combination of CDH and omphalocele is rare and with the abdominal content herniating into the omphalocele instead of the thorax, antenatal diagnosis of such condition can be difficult. Unlike other reported cases in the literature, our patient's respiratory condition has been improving with time and is surviving beyond the infancy period. We believe this to be the first such survival case reported in the literature.

Cardiac Mechanics in Children with Bronchopulmonary Dysplasia.

BACKGROUND: Disruption of pulmonary vasculogenesis occurs in bronchopulmonary dysplasia (BPD). Increased impedance to pulmonary flow secondary to abnormal vascular development may affect ventricular mechanics. OBJECTIVES: We aimed to test the hypothesis that cardiac mechanics are altered in prematurely born children with BPD. METHODS: A cohort of 47 children was studied: 22 aged 48.9 ± 6.4 months born preterm with BPD (group I), 13 aged 46.3 ± 8.1 months born preterm without BPD (group II), and 12 healthy children aged 53.4 ± 12.2 months born at term (group III). Left (LV) and right ventricular (RV) strain and strain rate were assessed by speckle-tracking echocardiography. RESULTS: The global RV systolic strain rate (p = 0.022) was significantly lower, while RV systolic strain (p = 0.05) and early diastolic strain rate (p = 0.05) and LV longitudinal systolic strain rate (p = 0.06) also tended to be lower in group I than group III. Group I also tended to have lower RV systolic strain (p = 0.09) and early diastolic strain rate (p = 0.049) and LV longitudinal systolic strain rate (p = 0.08) than group II. An increasing trend from group I to III was observed for RV lateral wall and septal systolic strain and strain rate (all p < 0.05). The LV but not RV size was significantly smaller in group I compared with group III (p < 0.05). Multiple regression identified duration of invasive ventilation (ß = -0.66, p = 0.032) as an independent determinant of RV systolic strain after adjustment for perinatal risk factors. CONCLUSION: Impairment of RV myocardial deformation occurs in children with BPD, the magnitude of which is associated negatively with the duration of invasive ventilation.

Bacillus bloodstream infections in a tertiary perinatal centre: an 8-year study.

BACKGROUND: Isolates of nonanthrax Bacillus species in clinical samples are frequently considered as contaminants. However, there were case reports describing Bacillus sepsis among infants, associated with high mortality and morbidity. METHODS: We performed a retrospective review of the clinical and epidemiological features of Bacillus bacteremia at our neonatal intensive care unit from January 2002 to December 2009. RESULTS: Bacillus bacteremia was considered to be clinically significant in 11 infants. The median gestational age was 30 weeks. All had either central catheters or peripherally inserted arterial lines in situ. The mean neutrophil and lymphocyte counts were 6.73 × 10(9)/L (0.78 to 12.56 × 10(9)/L) and 2.75 × 10(9)/L (0.82 to 6.15 × 10(9)/L), respectively. All 11 infants received intravenous vancomycin, with an average duration of 12.4 days. In general, the earlier the catheter was removed, the quicker the clearance of bacteremia was achieved. All infants survived and were discharged from the hospital. CONCLUSIONS: The growth of Bacillus species in blood cultures cannot simply be regarded as a contaminant. Hematologic parameters are frequently unremarkable at the disease onset. Increased vigilance, early diagnosis, and effective therapy in conjunction with prompt catheter removal are the keys to successful management of Bacillus bacteremia.

Review of primary hypothyroidism in very low birthweight infants in a perinatal centre in Hong Kong.

AIMS: To review the incidence and risk factors of primary hypothyroidism in very low birthweight (VLBW) infants in our centre and to assess their neurodevelopmental outcome. METHOD: Retrospective, descriptive review of VLBW infants with primary hypothyroidism from 1 January 2000 to 31 December 2008 in a perinatal centre. Case control comparisons for neurodevelopmental outcome at 18 months, nested to a prospective VLBW cohort (Vermont Oxford Database). RESULTS: Twelve cases were identified, with the incidence of primary hypothyroidism of 1 in 55 live births in our VLBW cohort during the 9-year study period. Umbilical cord blood thyroid-stimulating hormone was abnormal in less than half of the cases using the current cut-off (≤14 mIU/L). Five cases were transient in nature, four cases were permanent and the causes for the rest remained undetermined at the time of review. Elevation of thyroid-stimulating hormone was first evident at a mean of 2.4 weeks post-natally. Follow-up assessment reviewed normal development in 83% of cases (10 out of 12 cases). There was no statistically significant difference in Griffith's scores at 18 months between the case and matched controls. CONCLUSIONS: The high incidence of primary hypothyroidism in our VLBW cohort deserved stringent monitoring of thyroid function post-natally. Umbilical cord blood screening was not useful as a screening tool because of its low sensitivity. Neurodevelopmental outcome for treated primary hypothyroidism was favourable as assessed at 18 months of age.