Key words congenital disorder of glycosylation, MOGS, whole exome sequencing. Congenital disorders of glycosylation (CDGs) are caused by deficient protein and lipid glycosylation. 1 Most CDGs are multisystem disorders. Mannosyl-oligosaccharide glucosidase congenital disorder of glycosylation (MOGS-CDG) is caused by recessive mutations in the mannosyl-oligosaccharide glucosidase I gene. Only six patients (from four families) have a d b c Fig. 1 (a) Clinical picture of the patient. (b) Echocardiogram of our patient revealed marked decrease in cardiac function. (c) Brain MRI scan, sagittal T1-weighted sequence displaying partial agenesis of the corpus callosum. (arrow) (d) Electropherogram shows novel compound heterozygous mutations in MOGS. Patient had compound heterozygous mutations: c.1483C>T nonsense mutation from the father and c.2255G>A missense mutation from the mother. (red arrows)
Recent advances in neonatal cardiorespiratory management and neonatal renal replacement therapy have led to occasional reports of favorable short-term and long-term outcomes for Potter sequence, once thought to be fatal. The present patient was a girl born at a gestational age of 34 weeks 4 days with a birthweight of 1398 g. She was diagnosed with Potter sequence complicated by pulmonary hypoplasia due to left renal agenesis and small right kidney. Hemodialysis was started because anuria persisted even after persistent pulmonary hypertension receded and cardiorespiratory status improved. Peritoneal dialysis during the clinical course failed to achieve stability because of pericatheter leakage and frequent obstruction of the peritoneal dialysis catheter; in the meantime, hemodialysis was also performed. Once bodyweight passed 3.5 kg, peritoneal dialysis became more feasible with stability; the patient was discharged at 9 months and at the time of writing was on peritoneal dialysis at home, and renal transplantation was planned.
Fetomaternal hemorrhage is referred to as the passage of fetal blood into the maternal circulation. Massive hemorrhage can cause severe fetal anemia, affecting fetal and neonatal outcomes. A neonatal hemoglobin concentration (Hb), which is reportedly a significant prognostic factor, of <5.0 g/dL has been reported to carry a high risk of poor outcomes (death and major morbidity). We present a case of massive fetomaternal hemorrhage with the lowest value of neonatal Hb ever previously reported in a survivor, who subsequently met all the developmental milestones at the corrected age of 18 months. A male infant born at 27 weeks gestation, weighing 998 g, presented with severe anemia with an Hb of 1.2 g/dL and an HbF level in the mother’s blood of 2.4%, which led to a diagnosis of fetomaternal hemorrhage. Since there were no findings of hypovolemia, exchange transfusion was performed for prompt correction of the severe anemia without precipitating volume overload. The present case suggested that exchange transfusion might promptly correct anemia in patients with fetomaternal hemorrhage without hypovolemia without causing volume overload.
Objectives:The aim of this study is to evaluate the efficacy and safety of non-invasive neurally adjusted ventilatory assist used after INtubation-SURfactant-Extubation in preterm infants with respiratory distress syndrome.Methods:We conducted a prospective observational study that included 15 inborn preterm infants at 28 (0/7) to 33 (6/7) weeks of gestation with respiratory distress syndrome in the period from April 2017 to October 2018. After INtubation-SURfactant-Extubation, infants underwent non-invasive neurally adjusted ventilatory assist. INtubation-SURfactant-Extubation failure was defined as follows: fraction of inspired oxygen requirement >0.4, respiratory acidosis, and severe apnea within 5 days after surfactant administration.Results:Two of the 15 (13.3%) infants showed INtubation-SURfactant-Extubation failure and required mechanical ventilation. No infants experienced any major complications such as pneumothorax, patent ductus arteriosus ligation, severe intraventricular hemorrhage, periventricular leukomalacia, retinopathy of prematurity, or death.Conclusion:The rate of INtubation-SURfactant-Extubation failure when non-invasive neurally adjusted ventilatory assist was used after INtubation-SURfactant-Extubation for preterm infants with respiratory distress syndrome was 13.3%. Non-invasive neurally adjusted ventilatory assist can be safely performed without severe complications for preterm infants soon after birth.
Acquired bronchial stenosis is rare in children, usually caused by infection or traumatic granuloma due to chronic intubation. A case of severe acquired left bronchial stenosis successfully treated by conservative management for gastroesophageal reflux and atelectasis is reported. A male infant born at 24 weeks’ gestation, weighing 461 g, presented with massive atelectasis of the left lower lobe and severe left bronchial stenosis, based on chest computed tomography performed for the evaluation of respiratory failure at the age of 8 months. He responded well to the placement of a duodenal tube for gastroesophageal reflux and chest physiotherapy, reducing the symptoms of atelectasis and successfully managing the left bronchial stenosis. Acquired bronchial stenosis could be caused by bronchial shift due to atelectasis, and it can be cured by conservative management. In cases of acquired bronchial stenosis with massive atelectasis, it is important to consider atelectasis as a potential cause of the acquired bronchial stenosis.
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