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Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review

  • Nouf Althonaian
  • Abdulrahman Alsultan
  • Eva Morava
  • Majid Alfadhel
Research Report
Part of the JIMD Reports book series


Hemophagocytic lymphohistiocytosis (HLH) is a rare but potentially fatal disease that is characterized by proliferation and infiltration of hyperactivated macrophages and T-lymphocytes. Clinically, it is characterized by prolonged fever, hepatosplenomegaly, hypertriglyceridemia, hypofibrinogenemia, pancytopenia, and hemophagocytosis in the bone marrow, spleen, or lymph nodes. It can be classified as primary if it is due to a genetic defect, or secondary if it is due to a different etiology such as severe infection, immune deficiency syndrome, rheumatological disorder, malignancy, and inborn errors of metabolism such as galactosemia, multiple sulfatase deficiency, lysinuric protein intolerance, Gaucher disease, Niemann–Pick disease, Wolman disease, propionic acidemia, methylmalonic acidemia, biotinidase deficiency, cobalamin C defect, galactosialidosis, Pearson syndrome, and long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency. For the first time in the literature, we report on a 5-year-old girl diagnosed with a Component of Oligomeric Golgi Complex 6 (COG6) gene defect complicated by HLH. Finally, we review the literature on inborn errors of metabolism associated with HLH and compare the previously reported patients of COG6 gene defect with our patient.


CDG COG6-CDG Congenital disorders of glycosylation Hemophagocytic syndrome HLH Inborn errors of metabolism Serum transferrin isoelectric focusing Shaheen syndrome 



We are grateful to the patient and her family reported in this article for their genuine support.


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Copyright information

© Society for the Study of Inborn Errors of Metabolism (SSIEM) 2018

Authors and Affiliations

  • Nouf Althonaian
    • 1
  • Abdulrahman Alsultan
    • 2
  • Eva Morava
    • 3
  • Majid Alfadhel
    • 1
    • 4
  1. 1.King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (NGHA)RiyadhSaudi Arabia
  2. 2.Department of PediatricsCollege of Medicine, King Saud UniversityRiyadhSaudi Arabia
  3. 3.Department of Clinical GenomicsMayo ClinicRochesterUSA
  4. 4.Division of Genetics, Department of PediatricsKing Abdullah Specialized Children Hospital, King Abdullah International Medical Research Centre, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (NGHA)RiyadhSaudi Arabia

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