TY - JOUR
T1 - Resolution of cor pulmonale after medical management in a patient with cblC-type methylmalonic aciduria and homocystinuria
T2 - A case report
AU - Profitlich, Laurie
AU - Kirmse, Brian
AU - Wasserstein, Melissa P.
AU - Diaz, George
AU - Srivastava, Shubhika
PY - 2009
Y1 - 2009
N2 - 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.
AB - 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.
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U2 - 10.4076/1757-1626-2-8603
DO - 10.4076/1757-1626-2-8603
M3 - Article
C2 - 19830091
AN - SCOPUS:77953401904
SN - 1757-1626
VL - 2
JO - Cases Journal
JF - Cases Journal
IS - 7
M1 - 8603
ER -