Garry Inglis

Prenatal and postnatal presentation of severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) due to the FGFR3 Lys650Met mutation.

We present prenatal and postnatal features of a patient with severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN). Mutation analysis confirmed the clinical diagnosis by detecting the FGFR3 Lys650Met mutation. This case, one of only six with molecular analysis reported in the literature, confirms the severe morbidity and adds to the reports with early mortality associated with SADDAN. Clinical–radiological characteristics of all reported cases of SADDAN are reviewed and discussed.

Aspiration of parenteral nutrition -- a previously unreported complication of central venous access in an infant: a case report.

IntroductionThe insertion of percutaneous central venous catheters is a common procedure in neonatal intensive care nurseries. Placement of the catheter tip in a large central vein is most desirable. Occasionally, due to difficult venous access, catheter tips are left in places that are less than ideal.Case presentationA female infant with a complicated gastroschisis developed signs of short bowel syndrome post surgery. She was treated with a combination of parenteral nutrition and enteral feeds. A central venous line was inserted through a scalp vein. The tip was noted to be in a vessel at the level of the mandible. She subsequently became unwell with large milky pharyngeal aspirates and episodes of bradycardia. Chest radiography revealed aspiration. The central venous line was removed because of presumed extravasation. This is the first reported case of parenteral nutrition extravasation into the pharynx causing aspiration in an infant.ConclusionThis complication may have been prevented by recognising that the tip of the catheter was not correctly placed. When catheters are in unusual positions it may be useful to obtain a second radiograph from a different angle or an ultrasound scan to confirm the positioning of the catheter tip.

Methods for securing endotracheal tubes in newborn infants (Protocol)

This is the protocol for a review and there is no abstract. The objectives are as follows: To determine the effect of different methods of securing endotracheal tubes on the risk of accidental extubation and complications of endotracheal intubation in neonates requiring mechanical ventilation. Data permitting, subgroup analyses of the following are planned to determine whether results differ by: 1. Weight at time of randomisation (< 1000g versus ≥ 1000g) 2. Nasal versus oral intubation.