1/460. Epignathus: a germ-cell tumour presenting as neonatal respiratory distress. A full-term neonate developed acute upper airway obstruction immediately after birth secondary to a polypoidal mass in the oropharynx. After the child's airway had been secured, the mass was excised and found to be a nasopharyngeal teratoma, a rare congenital germ cell tumour which is frequently associated with other congenital malformations. It is sometimes possible to diagnose these tumours in utero, thereby enabling appropriate precautions to be taken during the delivery, otherwise if the diagnosis is unknown, then it is essential for any attending clinician to urgently secure the airway by means of either intubation or tracheostomy. Such a case is presented with a review of the possible management options. This case emphasises the fact that although many conditions are uncommon, the total incidence of rare conditions is surprisingly high, and that care needs to be taken at all times in the management of patients, in order not to overlook such life-threatening diagnoses. ( info) |
2/460. Fetal neurenteric cyst causing hydrops: case report and review of the literature. Routine prenatal ultrasound revealed a unilocular cystic mass associated with upper thoracic hemivertebrae that grew to 6 cm at 28 weeks and was associated with hydrops. A thoraco-amniotic shunt decompressed the cyst and resolved the hydrops, but the shunt occluded 17 days later. Preterm labour led to vaginal delivery at 31 2/7 weeks. Postnatally, the cyst was decompressed by thoracentesis due to respiratory distress. It was resected on day four of life. Severe tracheobronchomalacia was present post-operatively, presumably due to prenatal mass effect of the cyst. At one year of age, the child has recovered completely without adverse respiratory or neurological sequelae. ( info) |
3/460. Surgical ligation of a persistent arterial duct in one of conjoined thoracopagus twins prior to surgical separation. One of conjoined thoracopagus twins, with separate hearts and a common pericardial sack, presented with respiratory distress because of a persistent arterial duct causing congestive heart failure in the neonatal period. Surgical ligation of the duct was performed prior to subsequent separation, with an excellent outcome. ( info) |
4/460. Nemaline myopathy and cardiomyopathy. A case report is presented in which a 4-year-old male is diagnosed with hypertrophic cardiomyopathy, respiratory distress, muscle hypotonia, and psychomotor retardation. Electron microscopic study of skeletal muscle biopsy revealed pathologic changes typical of congenital nemaline myopathy, and biochemical analysis revealed a disorder of mitochondrial fatty acid oxidation. Therefore a previously undescribed combination of a structural and metabolic myopathy is reported. ( info) |
5/460. A case of large placental chorioangioma with non-immunological hydrops fetalis. A 34-year-old Japanese woman (gravida 2, para 2) with polyhydramnios and non-immunological hydrops fetalis was referred to our department at 32 weeks of gestation. On admission, the blood pressure was 120/60 mmHg and there was no pitting edema of the lower extremities. An ultrasound examination disclosed a large placental tumor 5.8 cm x 4.4 cm x 4.8 cm. Fetal lung compression was suspected because the lung-thorax transverse area ratio was 0.13. The preload index of the inferior vena cava was 0.74, suggesting fetal cardiac failure. After fetal pleural effusion was aspirated, lung compression developed. cordocentesis was performed at 33 weeks of gestation, and the fetal karyotype was confirmed to be 46, XY from an umbilical blood cultivation. The patient underwent a cesarean section at 33 weeks of gestation due to severe uterine contraction after preterm PROM. The baby was a 3,840 g male with a distended abdomen. apgar score at 1 minute was 1. A chest X-ray demonstrated respiratory distress syndrome. The baby was discharged on the 69th day after birth and he is now 2 years and 9 months old and healthy. ( info) |
6/460. Multiple neonatal endocrinopathies in McCune-Albright syndrome. Two cases of McCune-Albright syndrome (MAS) are reported who presented in the neonatal period with profound failure to thrive, cardio-respiratory distress, precocious puberty and Cushing's syndrome for which both underwent bilateral adrenalectomy. Both girls had also bilateral nephrocalcinosis; in one case that may have been attributed to Cushing's syndrome, but in the second case the cause remained obscure with no obvious abnormality of calcium metabolism. The first girl had hydrocephalus which is uncommon in this condition and the second girl still failed to thrive at the age of 6 years, despite adequate caloric intake and hormonal manipulation. A constellation of other abnormal features are described. These cases illustrate the complexity of MAS which can become a life-threatening or a debilitating disorder. ( info) |
7/460. Surfactant replacement therapy in RSV-induced acute respiratory distress syndrome (ARDS). Acute respiratory distress syndrome (ARDS) associated with severe respiratory syncytial virus infection is rare. We report a 5-month-old Indian girl who was admitted to our intensive care ward with severe respiratory failure who fulfilled the criteria for ARDS using both Murray's lung injury Score of > 2.5 and the American-European consensus Conference definition for ARDS. She developed diffuse bilateral alveolar infiltrates, severe hypoxaemia (PaO2/FiO2 < 100) and required high PEEP (> 15 cm H2O) 24 hours after admission. RSV was isolated from her nasopharyngeal secretion. She also had clinical features suggestive of a primary immunodeficiency and had laboratory evidence of combined T and B cell defect. There was unsustained clinical improvement with a dose of surfactant administered at 36 hours of PICU stay, and she continued to deteriorate and succumbed after 19 days in the PICU. ( info) |
8/460. Preoperative extracorporeal membrane oxygenation in newborns with total anomalous pulmonary venous connection. This report describes three neonates who were supported with extracorporeal membrane oxygenation before surgical correction of total anomalous pulmonary venous connection. extracorporeal membrane oxygenation was initially used to treat preoperative end-organ failure and suspected persistent pulmonary hypertension. All patients underwent surgical correction of total anomalous pulmonary venous connection after 8, 4 and 4 days of preoperative support, respectively. Two of these patients required extracorporeal membrane oxygenation after surgery; one died from bleeding while the other was weaned from extracorporeal membrane oxygenation on day 8 and discharged from the hospital. These results show that veno-arterial extracorporeal membrane oxygenation represents a life-saving perioperative means for supporting moribund neonates with total anomalous pulmonary venous connection and is effective in improving preoperative patient's condition. ( info) |
| We present a patient born at 36 weeks' gestation with respiratory distress, who required 6 days of mechanical ventilation, without a demonstrable infectious cause. He also developed hyponatremia, hypernatriuria, elevated serum aldosterone levels, and probable pseudohypoaldosteronism type 1 (PHA-1). This appears to be the first reported human case of both respiratory distress and a renal salt wasting process with elevated serum aldosterone. In animal models, abnormalities of subunits of the epithelial sodium channel produce respiratory distress and PHA-1. This patient's clinical presentation could be due to the same processes. ( info) |
10/460. Bronchodilator responsiveness in a ventilator-dependent infant with severe tracheobronchomalacia. A neonatal case of severe, ventilator-dependent tracheobronchomalacia (TBM) is described. The extent of the malacic segment was determined by endoscopy and tracheobronchography. Additionally, relevant and ever increasing reversible peripheral airway obstruction was documented by measuring the mechanical properties of the respiratory system before and after salbutamol. With the combination of endoscopically guided aortopexy and salbutamol infusion, the infant was eventually weaned from mechanical ventilation at the age of 86 days. We speculate that in ventilator-dependent infants with severe TBM the determination of bronchodilator responsiveness may have clinical consequences. ( info) |