In a Record Time at IMC: NICU Team Rescued and Evacuated a Newborn Diagnosed with an Inborn error of Metabolism due to Hyperammonemia and Progressive Encephalopathy

The 3-day old infant was present at the emergency room with signs of respiratory distress and decreased level of conscious distress. The case progressed quickly to coma and multiple organs failure; hence timely life restitution was initiated by ER and NICU team to stabilize the case and maintain the functionality of the body organs. Surprisingly, the baby’s secondary survey blood analysis showed high levels of Ammonia and signs of a rare inborn metabolism error which required an urgent Peritoneal Dialysis and rare medication to antagonize the toxic effects of high Ammonia on different vital organs especially the brain.
After stabilizing the baby hemodynamically, the surgical team was able to insert the peritoneal catheter successfully. Shortly thereafter, the peritoneal dialysis process was commenced without any complications.
Despite their rarity, the clinical pharmacy team was able to make all Ammonia scavengers drugs available in a record time whereas the NICU team made all proper communication with KFSH in Riyadh, one of the few national and international medical centers to deal with such cases and provide liver transplant service especially for patients at such young age – the ultimate therapy option in this rare case and a real-time medical decision to save the infant’s life.
After arrangement with the KFSH Medevac at the Ministry of Defense, the case was accepted and transferred in coordination with the IMC transport team.
After ensuring the stability of the case, our transport team in NICU led by Dr. Eyad Alsarhi and supervised by Dr. Raffat Mussali successfully transferred the case to KFSH by the Ministry’s Air Ambulance.
It is worth mentioning that IMC’s initial precise diagnosis and timely medical case management including resuscitation, stabilization and air ambulance transportation have all taken place in a short time frame of 8 hours only and proved to be crucial in rescuing the life of the infant for him to continue the next stage of therapy at KFSH in Riyadh.