Fulminant echovirus 11 hepatitis in male non-identical twins in northern Italy, April 2023.

Echovirus 11 (E11) has recently been associated with a series of nine neonatal cases of severe hepatitis in France. Here, we present severe hepatitis caused by E11 in a pair of twins. In one of the neonates, the clinical picture evolved to fulminant hepatitis. The E11 genome showed 99% nucleotide identity with E11 strains reported in the cases in France. Rapid genome characterisation using next generation sequencing is essential to identify new and more pathogenetic variants.

SIMPSON-GOLABI-BEHMEL syndrome type 1: How placental immunohistochemistry can rapidly Predict the diagnosis.

INTRODUCTION: Glypican-3 (GPC3) is an oncofetal protein involved in cellular signaling, strongly expressed in the placenta, absent or diminished in postnatal life, but often increased in human malignancies. Germline loss-of-function variants of GPC3 gene are associated with Simpson-Golabi-Behmel syndrome type 1 (SGBS1), a rare recessive X-linked overgrowth disease characterized by typical facial features, congenital abnormalities, and an increased risk of developing childhood cancers. METHODS: A clinical suspicion of SGBS1 was postulated for a newborn with prenatal history of overgrowth and polyhydramnios, presenting with neonatal weight and length >99th percentile, coarse facies, iris and retinal coloboma, supernumerary nipples, and splenomegaly. While waiting for whole-genome sequencing (WGS) results, we investigated placental GPC3 immunohistochemical expression in the proband, in three additional cases of SGBS1, and disorders commonly associated with fetal macrosomia and/or placentomegaly. RESULTS: WGS in the proband identified a likely pathogenic maternally inherited missense variant in GPC3: c.1645A > G, (p.Ile549Val), and GPC3 immunohistochemistry demonstrated full-thickness loss of stain of the placental parenchyma. The same pattern ("null") was also present in the placentas of three additional cases of SGBS1, but not in those of unaffected controls. DISCUSSION: Immunohistochemical expression of GPC3 in the placenta is highly reproducible. Our findings showed that a "null pattern" of staining is predictive of SGBS1 and represents a valuable aid in the differential diagnosis of fetal macrosomias, allowing targeted genetic testing and earlier diagnosis.

An unusual case of transient neonatal pustular melanosis: a diagnostic puzzle.

UNLABELLED: A newborn's skin may exhibit a variety of changes during the first weeks of life, and rashes are extremely common in the neonatal period, representing a significant source of parental concern. In particular, a variety of skin eruptions can present as pustules. Most of them are innocuous and self-limiting, while others can be the manifestation of an infectious disease or even indicative of serious underlying disorders. Transient neonatal pustular melanosis is an uncommon vesiculopustular rash characterized by small pustules on a non-erythematous base, noted at birth or during the first day of life, without systemic symptoms. The lesions rupture spontaneously, leaving hyperpigmented macules that usually fade within few weeks. Clinical recognition of this disease can help physicians avoid unnecessary diagnostic testing and treatment for infectious etiologies because no specific therapy is recommended. The clinical aspect and time of onset are generally sufficient to make the correct diagnosis. Nevertheless, peculiar clinical presentations may require additional work-up to rule out life-threatening conditions, and dermatological consultation and histological examination are required for the final diagnosis. CONCLUSION: We report an exceedingly unusual presentation of transient neonatal pustular melanosis, suggesting the importance of a systematic diagnostic approach to allow a confident recognition of this benign condition.

Central venous catheters in premature babies: radiological evaluation, malpositioning and complications.

Central venous catheters are important in the care for prematurely born children in the neonatal intensive care unit. The purpose of this pictorial essay is to illustrate correct positioning, malpositioning and possible complications of such devices.

Circulating endothelial progenitor cells in preterm infants with bronchopulmonary dysplasia.

RATIONALE: The new form of bronchopulmonary dysplasia (BPD) is characterized by lung immaturity with disrupted alveolar and capillary development after extremely premature birth, but the mechanism of impaired lung vascular formation is still not completely understood. OBJECTIVES: We tested the hypothesis that reduced numbers of circulating endothelial progenitor cells at birth are associated with the development of BPD. METHODS: We studied ninety-eight preterm infants with gestational age of less than 32 weeks or a birth weight less than 1,500 g. Endothelial colony-forming cells (ECFCs) were assessed by clonogenic analysis in infants for whom cord blood was available. The proportion of circulating endothelial and hematopoietic cells was measured by flow cytometry at birth, at 48 hours, and at 7 days of life. MEASUREMENTS AND MAIN RESULTS: ECFCs in cord blood were lower in infants who later developed BPD (median [range]: 0.00 [0.00-0.48] vs. 2.00 [0.00-21.87]; P = 0.002). ECFCs decreased with decreasing gestational age (r = 0.41; P = 0.02), but even at extremely low gestational ages, infants with higher numbers of ECFCs were protected from BPD. The endothelial and hematopoietic cell subsets studied by flow cytometry were comparable in infants with and without BPD and rapidly decreased after birth. CONCLUSIONS: ECFCs are low at extremely low gestational ages and increase during gestation; extremely preterm infants who display lower numbers at birth have an increased risk of developing BPD. Our findings suggest that decreased ECFCs following extremely preterm birth may be associated with the risk for developing lung vascular immaturity characteristic of new BPD.