Journal
PEDIATRIC HEMATOLOGY AND ONCOLOGY
Volume 22, Issue 8, Pages 717-721Publisher
TAYLOR & FRANCIS INC
DOI: 10.1080/08880010500278871
Keywords
hemophagocytic lymphohistiocytosis; homocystinuria; methylmalonic aciduria
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Cobalamin C disease is a rare genetic condition resulting in methylmalonic aciduria, homocystinuria, and hematologic abnormalities. Clinical characteristics include ophthalmologic findings and neurological abnormalities, such as microcephaly, seizure, and mental retardation. The authors report on a 4-month-old patient initially diagnosed with hemophagocytic lymphohistiocytosis (HLH), who was later diagnosed with cobalamin C disease.
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