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Cobalamin C disease presenting with hemophagocytic lymphohistiocytosis
Susan Wu1, Ignacio Gonzalez-Gomez, Thomas Coates
1Division of Medical Genetics, Department of Pediatrics, Children's Hospital Los Angeles #90 and University of Southern California, 4650 Sunset Boulevard, Los Angeles, CA 90027, USA.
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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