Case Reports
doi: 10.1080/08880010500278871.
Cobalamin C disease presenting with hemophagocytic lymphohistiocytosis
Affiliations
- PMID: 16251179
- DOI: 10.1080/08880010500278871
Item in Clipboard
Case Reports
Cobalamin C disease presenting with hemophagocytic lymphohistiocytosis
Pediatr Hematol Oncol.
2005 Dec.
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.
Similar articles
-
[Neonatal hemolytic-uremic syndrome associated with methylmalonic aciduria and homocystinuria].An Esp Pediatr. 1996 Jul;45(1):97-8. An Esp Pediatr. 1996. PMID: 8849144 Review. Spanish. No abstract available.
-
Biochemical diagnosis and outcome of 2 years treatment in a patient with combined methylmalonic aciduria and homocystinuria.Eur J Pediatr. 1992 Nov;151(11):818-20. doi: 10.1007/BF01957932. Eur J Pediatr. 1992. PMID: 1468456
-
Cobalamin C defect associated with hemolytic-uremic syndrome.J Pediatr. 1992 Jun;120(6):934-7. doi: 10.1016/s0022-3476(05)81967-5. J Pediatr. 1992. PMID: 1593355
-
Congenital defect in intracellular cobalamin metabolism resulting in homocysteinuria and methylmalonic aciduria. I. Case report and histopathology.Helv Paediatr Acta. 1979;34(5):465-82. Helv Paediatr Acta. 1979. PMID: 528229
-
[Neonatal hemolytic-uremic syndrome, methylmalonic aciduria and homocystinuria caused by intracellular vitamin B 12 deficiency. Value of etiological diagnosis].Arch Fr Pediatr. 1993 Nov;50(9):749-54. Arch Fr Pediatr. 1993. PMID: 8060203 Review. French.
Cited by
-
Case Report: Hemophagocytic Lymphocytosis in a Patient With Glutaric Aciduria Type IIC.Front Immunol. 2022 Jan 13;12:810677. doi: 10.3389/fimmu.2021.810677. eCollection 2021. Front Immunol. 2022. PMID: 35095902 Free PMC article.
-
Different Presentations of Patients with Transcobalamin II Deficiency: A Single-Center Experience from Turkey.Turk J Haematol. 2019 Feb 7;36(1):37-42. doi: 10.4274/tjh.galenos.2018.2018.0230. Epub 2018 Sep 6. Turk J Haematol. 2019. PMID: 30185401 Free PMC article.
-
Cobalamin C defect: natural history, pathophysiology, and treatment.J Inherit Metab Dis. 2011 Feb;34(1):127-35. doi: 10.1007/s10545-010-9161-z. Epub 2010 Jul 15. J Inherit Metab Dis. 2011. PMID: 20632110 Review.
-
A nine-month-old-boy with Atypical Hemophagocytic Lymphohistiocytosis.Mediterr J Hematol Infect Dis. 2017 Oct 16;9(1):e2017057. doi: 10.4084/MJHID.2017.057. eCollection 2017. Mediterr J Hematol Infect Dis. 2017. PMID: 29181134 Free PMC article.
-
Expanding the Clinical and Genetic Spectra of Primary Immunodeficiency-Related Disorders With Clinical Exome Sequencing: Expected and Unexpected Findings.Front Immunol. 2019 Oct 1;10:2325. doi: 10.3389/fimmu.2019.02325. eCollection 2019. Front Immunol. 2019. PMID: 31681265 Free PMC article.
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
