TY - CHAP
T1 - Secondary hemophagocytic syndrome associated with cog6 gene defect
T2 - Report and review
AU - Althonaian, Nouf
AU - Alsultan, Abdulrahman
AU - Morava, Eva
AU - Alfadhel, Majid
N1 - Publisher Copyright:
© 2018, Society for the Study of Inborn Errors of Metabolism (SSIEM).
PY - 2018
Y1 - 2018
N2 - 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.
AB - 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.
KW - CDG
KW - COG6-CDG
KW - Congenital disorders of glycosylation
KW - HLH
KW - Hemophagocytic syndrome
KW - Inborn errors of metabolism
KW - Serum transferrin isoelectric focusing
KW - Shaheen syndrome
UR - http://www.scopus.com/inward/record.url?scp=85060344100&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85060344100&partnerID=8YFLogxK
U2 - 10.1007/8904_2018_88
DO - 10.1007/8904_2018_88
M3 - Chapter
AN - SCOPUS:85060344100
T3 - JIMD Reports
SP - 105
EP - 111
BT - JIMD Reports
PB - Springer
ER -