Cobalamin C disease presenting with hemophagocytic lymphohistiocytosis

Pediatr Hematol Oncol. 2005 Dec;22(8):717-21. doi: 10.1080/08880010500278871.

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.

Publication types

  • Case Reports

MeSH terms

  • Diagnosis, Differential
  • Female
  • Hemolytic-Uremic Syndrome / complications
  • Hemolytic-Uremic Syndrome / diagnosis
  • Hemolytic-Uremic Syndrome / drug therapy
  • Homocystinuria / diagnosis*
  • Homocystinuria / etiology
  • Homocystinuria / urine
  • Humans
  • Infant
  • Lymphohistiocytosis, Hemophagocytic / complications
  • Lymphohistiocytosis, Hemophagocytic / diagnosis*
  • Metabolism, Inborn Errors / complications
  • Metabolism, Inborn Errors / diagnosis*
  • Metabolism, Inborn Errors / drug therapy
  • Methylmalonic Acid / urine
  • Prednisone / therapeutic use
  • Vitamin B 12 / metabolism*

Substances

  • Methylmalonic Acid
  • Vitamin B 12
  • Prednisone