COBALAMIN C DISEASE PRESENTING WITH HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS

Abstract

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.

Keywords:

• hemophagocytic lymphohistiocytosis
• homocystinuria
• methylmalonic aciduria