Art and Science of Laboratory Medicine. Clinical laboratory and biomedical science related news, abstracts and images for medical laboratory professionals, students and other laboratory geeks.
Art and Science of Laboratory Medicine
Tuesday, April 2, 2013
Newborn Metabolic Errors
Many diseases develop over a long period, either due to outside effects on the body or slow changes in the interior physiology. The second case of this series is an example of the opposite situation: a disease that appears rapidly at birth. What kind of disease is this, and how are they evaluated? The case: A 5-day old child, born 6 weeks premature, was lethargic with difficult breathing. He had required breathing support for his first 3 days of life, but standard treatments with surfactant let him breathe normally thereafter. During his fifth day, he went from normal breathing to being completely dependent on machine ventilation; he also had a seizure that was stopped with phenobarbital.