COBALAMIN C DISEASE PRESENTING WITH HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS

Susan Wu Division of Medical Genetics, Department of Pediatrics, Children's Hospital Los Angeles and University of Southern California, Los Angeles, California, USA

, MD,

Ignacio Gonzalez-Gomez Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles and University of Southern California, Los Angeles, California, USA

, MD,

Thomas Coates Division of Hematology Oncology, Department of Pediatrics, hildren's Hospital Los Angeles and University of Southern California, Los Angeles, California, USA

, MD &

Shoji Yano Division of Medical Genetics, Department of Pediatrics, Children's Hospital Los Angeles and University of Southern California, Los Angeles, California, USA

, MD

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.

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COBALAMIN C DISEASE PRESENTING WITH HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS

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COBALAMIN C DISEASE PRESENTING WITH HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS

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