Neonatal Respiratory Distress and Airway Emergency: Report of Two Cases.

We discuss two cases of congenital airway malformations seen in our neonatal intensive care unit (NICU). The aim is to report extremely rare events characterized by immediate respiratory distress after delivery and the impossibility to ventilate and intubate the airway. The first case is a male twin born at 34 weeks by emergency caesarean section. Immediately after delivery, the newborn was cyanotic and showed severe respiratory distress. Bag-valve-mask ventilation did not relieve the respiratory distress but allowed for temporary oxygenation during subsequent unsuccessful oral-tracheal intubation (OTI) attempts. Flexible laryngoscopy revealed complete subglottic obstruction. Postmortem analysis revealed a poly-malformative syndrome, unilateral multicystic renal dysplasia with a complete subglottic diaphragm, and a tracheo-esophageal fistula (TEF). The second case is a male patient that was vaginally born at 35 weeks. Antenatally, an ultrasound (US) arose suspicion for a VACTERL association (vertebral defects, anal atresia, TEF with esophageal atresia and radial or renal dysplasia, plus cardiovascular and limb defects) and a TEF, and thus, fetal magnetic resonance (MRI) was scheduled. Spontaneous labor started shortly thereafter, before imaging could be performed. Respiratory distress, cyanosis, and absence of an audible cry was observed immediately at delivery. Attempts at OTI were unsuccessful, whereas bag-valve-mask ventilation and esophageal intubation allowed for sufficient oxygenation. An emergency tracheostomy was attempted, although no trachea could be found on cervical exploration. Postmortem analysis revealed tracheal agenesis (TA), renal dysplasia, anal atresia, and a single umbilical artery. Clinicians need to be aware of congenital airway malformations and subsequent difficulties upon endotracheal intubation and must plan for multidisciplinary management of the airway at delivery, including emergency esophageal intubation and tracheostomy.

[Ready-to-use parenteral nutrition in a preterm infant with necrotizing enterocolitis and related complications: case report]. / Nutrizione parenterale con sacche precostituite nel nato pretermine con enterocolite necrotizzante complicata: un caso clinico.

INTRODUCTION: Necrotizing enterocolitis (NEC) is a very aggressive, destructive and sometimes lethal disease, which mainly affects infants born with severe prematurity. These patients need a complex multidisciplinary approach. The clinical course is often long and complicated, and nutritional approach should ensure a balance between the need for nutrients and the risk of complications. CLINICAL CASE: We describe the case of a preterm female infant born at 24 weeks and 5 days of gestational age transferred to our intensive care unit for NEC complicated with intestinal perforation. Subsequently, she developed short bowel syndrome. In terms of nutrition, the baby was treated with the use of standard parenteral nutrition (PN) solutions for preterm infants, which were prescribed immediately after passing the critical and metabolically unstable phase of disease. It was possible to use these standard PN solutions also during a period of cholestasis and after the hospital discharge. CONCLUSIONS: The use of ready-to-use bags with standard solutions for PN in preterm infants complicated with surgical pathology is possible, feasible, safe and effective; it is recommendable to perform periodic clinical and laboratory evaluations.

Cerebral ultrasound abnormalities in infants born to mothers with autoimmune disease.

OBJECTIVES: Cerebral abnormalities detected by cranial ultrasound (cUS) have been reported in infants born to mothers with autoimmune disease. However, the pathogenesis of the infants' brain injury remains unclear. The authors aimed to study the possible association between abnormalities on neonatal cUS and perinatal factors related to maternal autoimmune disease. METHODS: cUS evaluation was carried out at birth in 114 infants born to mothers with autoimmune disease, and repeated up to 8-9 months of life in those showing sonographic abnormalities at the first examination. The authors analysed the relationships among cerebral ultrasound abnormalities and antenatal exposure to maternal drug treatment, placental transfer of auto-antibodies and gestational complications. In addition, infants were investigated for neuromotor development from birth to 24 months of age. RESULTS: Cerebral ultrasound abnormalities, including subependymal pseudocyst, lenticulostriate vasculopathy and echogenic periventricular white matter, were detected in 41 of 114 infants (35.9%). No significant associations were found between abnormalities on cUS and the perinatal factors included in the study. No cases of persistent cerebral ultrasound abnormalities or neuromotor delay were observed during the follow-up period. CONCLUSIONS: A considerable number of cerebral ultrasound abnormalities were observed in a cohort of infants born to mothers with autoimmune disease. However, no perinatal factors were significantly associated with this finding, suggesting the fetal brain impairment had a multi-factorial aetiology. Although no case of neuromotor delay was observed, long term neurological assessment of these babies is recommended in view of the cognitive impairment reported in previous studies.

Subependymal periventricular heterotopias in a patient with ehlers-danlos syndrome: a new case.

Ehlers-Danlos syndrome is a complex hereditary connective tissue disorder that is characterized by abnormalities of the skin and joints and visceral and neurological manifestations. At present, at least 11 forms are recognized on the basis of their clinical characteristics, methods of transmission, and biochemical defect. The neurologic manifestations include cerebrovascular disease, peripheral neuropathy, plexopathy, periventricular subependymal heterotopias, and epilepsy. Previously, 2 females were reported to be affected with subependimal periventricular heterotopias and Ehlers-Danlos syndrome type 1. The authors report a new case of a 12-year-old girl with similar clinical and neuroradiological features.