At age 2, Evan again arrived at the ER. At that time, he was eating poorly and failing to thrive, and his weight was under the 5th percentile. His pediatrician had diagnosed anemia and treated it with iron supplements.
The ER doctor admitted Evan to the hospital’s pediatric ward for observation. Routine blood work revealed significantly elevated serum lactate dehydrogenase, an indicator of injury or disease. All other blood work was normal, and there was no anemia. A chest X-ray showed marked lung scarring and a normal heart size.
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While he was in the hospital, Evan started deteriorating further. He began suffering from respiratory distress and started wheezing. An echocardiogram was abnormal, and a CAT scan of his chest revealed signs of pulmonary hypertension (high blood pressure in the arteries leading from the heart to the lungs, which is an extremely dangerous condition). Doctors transferred him to the pediatric cardiac unit and started him on medications to improve his heart and lung function.
Evan’s doctors found out that his 3-year-old brother Luke had a history of hemolytic uremic syndrome (HUS), a potentially deadly disorder that can be caused by cobalamin C disease. Testing indeed showed that Evan had cobalamin C disease, and his doctors immediately started treatment.
Four days after his treatment started, Evan’s blood tests markedly improved. But in the ICU, his condition worsened. He went into a pulmonary hypertensive crisis, and his heart stopped. Resuscitation efforts were unsuccessful, and Evan died.
Evan’s doctors suspected that he had severe damage to the vessels in his lungs as the result of chronic high homocysteine levels caused by his cobalamin C disease. Chronic high homocysteine damages blood vessels, promoting vasoconstriction. In the lungs, this causes symptoms of wheezing and labored breathing, and leads to increased pulmonary pressures and pulmonary embolisms (bloodclots that migrate to the lung).
Evan s tragic death saved his older brother, Luke. After Evan’s death, doctors checked Luke and found that he had the same genetic defect. The doctors report that as a result of treatment, Luke “had almost complete normalization of metabolic abnormalities without the appearance of neurological signs at follow-up. ”5