Cobalamin C disease presenting with hemophagocytic lymphohistiocytosis.
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.
Wu
Susan
S
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.
Gonzalez-Gomez
Ignacio
I
Coates
Thomas
T
Yano
Shoji
S
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*
D008764:Methylmalonic Acid; D014805:Vitamin B 12; D011241:Prednisone