Abstract
We describe a 3-year-old Hispanic male with cblC-type methylmalonic aciduria and homocystinuria who presented to the emergency department with progressive tachypnea, vomiting, and edema secondary to pulmonary embolism and cor pulmonale. With aggressive medical management, there was complete resolution of right heart failure and pulmonary hypertension after 3 months. Pulmonary embolism is rare in the pediatric population. Children with cblC-type methylmalonic aciduria and homocystinuria may be at increased risk for thrombus formation and pulmonary embolism due to chronic hyperhomocystinemia, a risk factor for thrombus formation in the adult population. Aspirin therapy may be indicated in children with inborn errors of metabolism that predispose to hyperhomocystinemia.
Highlights
CblC-type methylmalonic aciduria and homocystinuria is an inborn error of vitamin B12 metabolism
We describe a 3-year-old Hispanic male with cobalamin C type methylmalonic aciduria and homocystinuria (cblC)-type methylmalonic aciduria and homocystinuria who presented to the emergency department with progressive tachypnea, vomiting, and edema secondary to pulmonary embolism and cor pulmonale
A prospective Canadian registry of venous thromboembolic events (VTE) in children between the ages of 1 and 18 years showed the incidence of pulmonary embolism to be 5.3/10,000 hospital admissions or 0.07/10,000 Canadian children [6]
Summary
CblC-type methylmalonic aciduria and homocystinuria (cblC) is an inborn error of vitamin B12 (cobalamin) metabolism. Abstract We describe a 3-year-old Hispanic male with cblC-type methylmalonic aciduria and homocystinuria who presented to the emergency department with progressive tachypnea, vomiting, and edema secondary to pulmonary embolism and cor pulmonale. There was complete resolution of right heart failure and pulmonary hypertension after 3 months.
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