Abnormal liver function tests and improved survival in a child with splice mutation TARP syndrome.

TARP (talipes equinovarus, atrial septal defect (ASD), Robin sequence, persistent left superior vena cava) syndrome is a rare X-linked disorder affecting the RBM10 gene. It was previously viewed as universally fatal in the early neonatal period, however, recent cases have shown patients surviving beyond this stage. We present a male toddler diagnosed with TARP syndrome due to a a previously unreported splicing mutation c.2295+1G>A in the RBM10 gene. At birth, he had an ASD and Robin sequence, two of the eponymous features, as well as other associated phenotypic features. During infancy, he had an extremely high alpha-fetoprotein, conjugated hyperbilirubinaemia and thrombocytopaenia, features not previously described in TARP syndrome. We discuss these findings as well as our patient's survival past the neonatal period with special consideration to recent genotype-phenotypes correlations.

Mowat-Wilson syndrome presenting with Shone's complex cardiac anomaly.

A female infant, who was diagnosed antenatally with complex heart disease, confirmed to be Shone's complex postnatally, underwent bilateral pulmonary artery banding, patent ductus arteriosus stent insertion and balloon aortic valvuloplasty soon after birth. She was found to have bilateral megaureters, left hydronephrosis and asplenia. She was on lifelong prophylactic antibiotics and extra vaccines. She had two episodes of pseudo-obstruction of the small bowel, but barium follow-through was normal. She also had a large bowel obstruction and work-up for Hirschsprung disease confirmed the diagnosis. It was noticed that she had developmental delay and hypotonia, together with subtle dysmorphism. She also had failure to thrive and difficulty feeding. Exome sequencing revealed a diagnosis of Mowat-Wilson syndrome (MWS). This case shows a previously undescribed association of Shone's complex, a complex left-sided obstructive heart defect, and MWS. It also highlights the usefulness of trio-exome sequencing in detecting such rare mutations.

Sodium nitroprusside, a lifesaving treatment for neonatal hypertension: an Irish experience.

We present a 30+2-weeks-old (30 weeks and 2 days) male, twin 1, born by emergency caesarean section due to twin-twin transfusion syndrome (absent end-diastolic flow and cardiac anomaly in twin 2) presenting with hypertensive crisis on day 3. He was already on milrinone and propranolol. His echocardiogram showed poor left ventricular contractility and after cardiology consultation received sodium nitroprusside, which eventually saved his life by decreasing his blood pressure and improving cardiac function. As sodium nitroprusside is very rarely used for hypertensive crisis in neonates, we would like to share our experiences on dosage, challenges in administration due to its fast onset of action, criteria for monitoring for complications and finally weaning. Baby developed severe bilateral periventricular leukomalacia as a potential complication of hypertensive crisis, preceded by bilateral periventricular flare secondary to twin-twin transfusion.

Serial N-terminal pro-brain natriuretic peptide measurement as a predictor of significant patent ductus arteriosus in preterm infants beyond the first week of life.

UNLABELLED: The aim of the study was to assess the role of plasma N-terminal pro-brain natriuretic peptide (NT-proBNP) concentration as a predictor of patent ductus arteriosus (PDA) in very low birth weight infants beyond the first week of life. This was a prospective observational study; newborns with a birth weight < 1500 g were eligible for enrolment. Enrolled infants were screened by echocardiography on day seven of life for the presence of a PDA. This was paired with a blood sample for NT-proBNP level. Echocardiography and NT-proBNP levels were repeated at weekly intervals. The primary outcome was correlation between PDA and NT-proBNP level and between measurements of PDA significance and NT-proBNP. Sixty-nine neonates were enrolled following parental consent. The mean birth weight was 1119 ± 257 g and mean gestational age was 28.6 ± 2.6 weeks. Median NT-proBNP level on day seven was 11469 ng/l in infants with a PDA vs. 898 ng/l in infants without a PDA (p < 0.0001). There was a statistically significant correlation between PDA diameter and NT-proBNP level on day seven, day 14 and day 21. CONCLUSION: NT-proBNP concentration is significantly increased in infants with a PDA and correlates well with PDA diameter in the first three weeks of life.