title: 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.
authors.affiliation: Division 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.
authors.forename: Susan
authors.initials: S
authors.lastname: Wu
authors.forename: Ignacio
authors.initials: I
authors.lastname: Gonzalez-Gomez
authors.forename: Thomas
authors.initials: T
authors.lastname: Coates
authors.forename: Shoji
authors.initials: S
authors.lastname: Yano
mesh_terms: D003937:Diagnosis, Differential; D005260:Female; D006463:Hemolytic-Uremic Syndrome / Q000150:complications / Q000175:diagnosis / Q000188:drug therapy; D006712:Homocystinuria / Q000175:diagnosis* / Q000209:etiology / Q000652:urine; D006801:Humans; D007223:Infant; D051359:Lymphohistiocytosis, Hemophagocytic / Q000150:complications / Q000175:diagnosis*; D008661:Metabolism, Inborn Errors / Q000150:complications / Q000175:diagnosis* / Q000188:drug therapy; D008764:Methylmalonic Acid / Q000652:urine; D011241:Prednisone / Q000627:therapeutic use; D014805:Vitamin B 12 / Q000378:metabolism*
chemical_list: D008764:Methylmalonic Acid; D014805:Vitamin B 12; D011241:Prednisone