Pathogenic variants of HECW2 have been reported in cases of neurodevelopmental disorder with hypotonia, seizures, and absent language (NDHSAL; OMIM #617268). A novel HECW2 variant (NM_001348768.2:c.4343 T > C,p.Leu1448Ser) was identified in an NDHSAL infant with severe cardiac comorbidities. The patient presented with fetal tachyarrhythmia and hydrops and was postnatally diagnosed with long QT syndrome. This study provides evidence that HECW2 pathogenic variants can cause long QT syndrome along with neurodevelopmental disorders.

No abstract

Background Iron deficiency during infancy is associated with poor neurological development, but iron overload causes severe complications. Appropriate iron supplementation is therefore vital. Reticulocyte hemoglobin content (RET‐He) provides a real‐time assessment of iron status and chracterezes hemoglobin synthesis in preterm infants. However, the existing literature lacks detailed reports assessing chronological changes in RET‐He. The aim of this study was to assess the chronological changes in RET‐He during oral iron dietary supplementation, and concomitant therapy with recombinant human erythropoietin (rHuEPO) in preterm very low birthweight infants. Methods Very low birthweight infants, admitted to our neonatal intensive care unit were analyzed retrospectively. Hemoglobin (Hb), reticulocyte percentage (Ret), mean corpuscular volume, RET‐He, serum iron (Fe), and serum ferritin were recorded. Data at birth (T0), the initial day of rHuEPO therapy (T1), the initial day of oral iron supplementation (T2), 1–2 weeks (T3), 3–4 weeks (T4), 5–6 weeks (T5), and 7–8 weeks (T6) from the initial day of oral iron supplementation were extracted, and their changes over time were examined. Results Reticulocyte hemoglobin content was highest at birth and declined rapidly thereafter, especially after starting rHuEPO therapy. There was no upward trend in RET‐He after the initiation of oral iron supplementation, with a slower increase during 5–6 weeks after the initiation of iron therapy. Conclusions During the treatment of anemia of prematurity, low RET‐He levels may be prolonged. Anemia of prematurity should therefore be assessed and treated on a case‐by‐case basis, while considering the iron metabolic capacity of preterm infants.

Insufficient adrenal function in preterm infants affects poor neonatal outcome, owing to the immaturity of their adrenal enzyme. While 11β-hydroxysteroid dehydrogenase (11βHSD) type 1 and type2 act as gatekeepers for cell steroid action. This study aimed to investigate the effects of early postnatal urinary tetrahydrocortisol/tetrahydrocortisone (F/E) ratio, used as an alternative indicator of 11βHSDs activity, in preterm infants on their subsequent clinical course. In 80 preterm infants of ≤ 34 weeks gestational age admitted to our hospital, urinary F/E ratio was measured within 24 hours of birth. Furthermore, the relationship between this ratio and neonatal outcomes was estimated. Univariate analysis revealed that the high F/E ratio group had significantly higher morbidity in terms of duration of ventilatory support for more than 14 days, hypotension requiring inotropes and hydrocortisone, and symptomatic patent ductus arteriosus. On multivariate analysis, the incidence of hypotension requiring hydrocortisone was higher in the high F/E group, despite the absence of elevated dehydroepiandrosterone, a precursor of cortisol.Conclusion: The urinary F/E ratio in the early postnatal period in preterm infants may contribute to the understanding of the pathogenesis of infant condition after birth by estimating the amount of local steroid action in the organs.