Identification of a homozygous deletion of the NEU1 gene in a patient with type II sialidosis presenting isolated fetal ascites and central nervous system hypoplasia.

BACKGROUND: Mutation of the NEU1 sialidase gene is the etiology of sialidosis, a storage disorder with a plethora of systemic manifestations ranging from ocular abnormalities, bone pathologies, and ataxia (sialidosis type I) to mental decline and infantile death (sialidosis type II). Non-immune hydrops fetalis and isolated ascites are the most severe forms of sialidosis type II that manifests itself prenatally. CASE REPORT: For the first time, we report congenital sialidosis with homozygous pathogenic deletion of the entire NEU1 gene in a Greek neonate with hydrops fetalis, isolated ascites, central nervous system hypoplasia, and lethal progression. Genetic characterization of the patient showed one previously unreported deletion in the NEU1 gene. CONCLUSION: Sialidosis type II should be considered in the differential diagnosis of neonatal hydrops fetalis of no immune causality or isolated fetal ascites. Genetic studying of the patient and the family by carrier detection is crucial to prevent missed diagnoses, while genetic counseling for following pregnancies is imperative. HIPPOKRATIA 2019, 23(4): 169-171.

Repair of Postoperative Abdominal Hernia in a Child with Congenital Omphalocele Using Porcine Dermal Matrix.

Introduction. Incisional hernias are a common complication appearing after abdominal wall defects reconstruction, with omphalocele and gastroschisis being the most common etiologies in children. Abdominal closure of these defects represents a real challenge for pediatric surgeons with many surgical techniques and various prosthetic materials being used for this purpose. Case Report. We present a case of repair of a postoperative ventral hernia occurring after congenital omphalocele reconstruction in a three-and-a-half-year-old child using an acellular, sterile, porcine dermal mesh. Conclusion. Non-cross-linked acellular porcine dermal matrix is an appropriate mesh used for the reconstruction of abdominal wall defects and their postoperative complications like large ventral hernias with success and preventing their recurrence.

Incidence and factors predisposing to retinopathy of prematurity in inborn infants less than 32 weeks of gestation.

PURPOSE: Retinopathy of prematurity (ROP) is a visual-impairing disorder of the developing retinal vasculature in premature infants. Recent advances in neonatal care have led to an increase in the vulnerable premature population. The aim of this retrospective study was to assess the incidence of ROP and its risk factors according to degree of prematurity. METHODS: Data from a sequence of 1,562 infants <32 weeks of gestational age, admitted to the Jewish General Hospital Neonatal Intensive Care Unit, a tertiary care perinatal center in Montreal, Canada, were reviewed to determine the incidence and risk factors of ROP. Perinatal risk factors for ROP were analyzed using univariate and multivariate analyses in four consecutive gestational age (GA) groups (24-25+6/7weeks, 26-27+6/7 weeks, 28-29+6/7 weeks and 30-31+6/7 weeks). RESULTS: The overall incidence in our study was 15.6 %. Severe ROP, defined as stage 3 or plus disease was detected in 5.2 % of the neonates screened. In the univariate analyses, many risk factors in each GA group were found to have a significant association with ROP. On subsequent multivariate logistic regression analysis, birth weight, small for gestational age, the presence of patent ductus arteriosus (PDA), sepsis, necrotizing enterocolitis (NEC), and mechanical ventilation >7 days were independently associated with the development of ROP. Birth weight was consistently an independent risk factor for ROP in all GA groups. CONCLUSION: Our study confirmed the importance of birth weight as an independent ROP risk factor. Sepsis, NEC, PDA, and prolonged mechanical ventilation have been shown to be independent risk factors in the different gestational age groups. Hippokratia 2016, 20(2): 121-126.

Assessment of lung ventilation in infants with respiratory distress syndrome using electrical impedance tomography.

AIM: The aim of the present study was to determine immediate changes of global and regional lung function after exogenous surfactant administration in mechanically ventilated infants with respiratory distress syndrome (RDS) using electrical impedance tomography (EIT) measurements. MATERIALS AND METHODS: A prospective study was conducted in a Neonatal Intensive Care Unit at a university hospital. Seventeen preterm infants (<12 hours old) suffering from RDS were included in this study. Interventions taken were low-pressure recruitment maneuver, surfactant administration and minimal adjustments in ventilator settings. Repeated EIT measurements (401 in total) were performed before and after (15 min - 30 min) surfactant administration. Global lung function changes were assessed with two markers, namely absolute resistivity (AbsR) and normalized impedance change (ΔZ); redistribution of regional lung ventilation was assessed as well. Airway pressure and arterial blood gases were recorded. RESULTS: Surfactant administration resulted in a statistically significant increase of both the AbsR and ΔZ markers. Moreover, there was a ventilation shift towards dorsal - dependent lung areas with less asymmetry in the right-to-left air distribution. CONCLUSIONS: Surfactant administration in the recruited lung with RDS modifies regional ventilation, as assessed by EIT, contributing to a more homogeneous air distribution. Furthermore, significant changes in EIT markers reflect improvement of global lung function after surfactant administration.

Identification of a mutation in the MTM1 gene, associated with X-linked myotubular myopathy, in a Greek family.

X-linked myotubular myopathy (XLMTM) is a rare congenital myopathy, usually characterized by severe hypotonia and respiratory insufficiency at birth, in affected, male infants. The disease is causally associated with mutations in the MTM1 gene, coding for phosphatase myotubularin. We report a severe case of XLMTM with a novel mutation, at a donor splicing site (c.1467+1G) previously associated with severe phenotype. The mutation was also identified in the patient's mother, providing an opportunity for sound genetic counseling.

Osteopenia in children and adolescents with hyperprolactinemia.

Three patients with hyperprolactinemia due to pituitary adenomas (two patients) or empty sella (one patient) and osteopenia are described. Their ages at presentation ranged from 8 to 17 years. Each patient was treated with cabergoline. Serum prolactin levels became normal in all patients within one month. Bone density and pubertal stage improved after 12 months of treatment.