Question

Case #8 Erin is a 3 week-old female infant who began vomiting three days after birth, usually within 30 minutes after breastfeeding. Her abdomen became distended at these times and she became irritable and cried frequently. When her mother noted that the whites of Erin's eyes were yellow, she took her to a pediatrician. The doctor agreed that Erin was slightly jaundiced. He also noted an enlargement of her liver and questioned the possibility of early cataract formation in the lenses of Erin's eyes. He ordered a liver and kidney function tests and did two separate dipstick urine tests in his office, one designed to measure only glucose in the urine and the other capable of detecting reducing sugars. 1. What is Erin's diagnosis? What is the mechanism behind the cause of Erin's symptoms? 2. What is the cause of Erin developing a cataract? 3. What is the cause of Erin becoming jaundiced? What does it mean to be jaundiced? 4. Erin's urine dipstick test was negative for glucose, but liver function tests showed an increase in serum bilirubin and several liver enzyme including albumin, as well as being positive for the presence of a reducing sugar. What is indicated by the Erin's lab results? 5. Is this a genetic disorder? If so explain. 6. What is the treatment for Erin's disorder? If not treated in a timely manner, what are possible outcomes? 446

Answer 1

Answer-

The Erin's diagnosis for jaundice due to which she is unable to digest the milk as her liver is inflammed and not functioning properly.

Jaundice is a liver disease where the skin turns pale or yellow. It is common condition in newborns, it occurs when there is too much bilirubim in the blood.

The cause of Erin developing a contract as bilirubin is produced by the breakdown of red blood cells. But jaundice happens when bilirubin builds up faster than a newborn's liver can break it down and pass it from the body. This may lead to decrease breakdown of glycogen causing increase in sugar level which may cause cataract.