Wolman disease in patients with familial hemophagocytic lymphohistiocytosis (FHL) negative mutations
Joint Authors
Rajab, Iman
Gil, Marine
Lambert, Nathalie
Basile, Genevieve de Saint
al-Shubaki, Izzat
al-Sayyid, Sulaf
Tantawi, Azzah A.
Source
The Egyptian Journal of Medical Human Genetics
Issue
Vol. 17, Issue 3 (31 Jul. 2016), pp.277-280, 4 p.
Publisher
Egyptian Society of Human Genetics
Publication Date
2016-07-31
Country of Publication
Egypt
No. of Pages
4
Main Subjects
Pharmacy, Health & Medical Sciences
Abstract EN
Background: Familial hemophagocytic lymphohistiocytosis is a rare autosomal recessive disease that is usually evident in the first few months or years of life.
Major signs and symptoms include hepatomegaly, splenomegaly, anemia, leucopenia or thrombocytopenias which resemble many inborn errors of metabolism and lysosomal storage diseases in which hemophagocytic lymphohistiocytosis has also been reported as a secondary association.
Case reports: We report three children with hemophagocytic lymphohistiocytosis for whom mutation screening for the known four genes of FHL ((PRF1 (FHL2), UNC13D (FHL3), STX11 (FHL4), and STXBP2 (FHL5)) revealed no mutation, while sequencing of the LIPA gene confirmed the diagnosis of Wolman disease.
Peculiar characteristics of these patients included absence of prominent fever, huge hepatomegaly and a severe failure to thrive.
Conclusion: Wolman disease should be excluded in patients with clinical and laboratory characteristics of FHL and negative molecular testing especially if the fever is not prominent and is associated with relatively huge hepatomegaly and/or severe failure to thrive.
American Psychological Association (APA)
al-Sayyid, Sulaf& al-Shubaki, Izzat& Tantawi, Azzah A.& Rajab, Iman& Gil, Marine& Lambert, Nathalie…[et al.]. 2016. Wolman disease in patients with familial hemophagocytic lymphohistiocytosis (FHL) negative mutations. The Egyptian Journal of Medical Human Genetics،Vol. 17, no. 3, pp.277-280.
https://search.emarefa.net/detail/BIM-733795
Modern Language Association (MLA)
al-Sayyid, Sulaf…[et al.]. Wolman disease in patients with familial hemophagocytic lymphohistiocytosis (FHL) negative mutations. The Egyptian Journal of Medical Human Genetics Vol. 17, no. 3 (Jul. 2016), pp.277-280.
https://search.emarefa.net/detail/BIM-733795
American Medical Association (AMA)
al-Sayyid, Sulaf& al-Shubaki, Izzat& Tantawi, Azzah A.& Rajab, Iman& Gil, Marine& Lambert, Nathalie…[et al.]. Wolman disease in patients with familial hemophagocytic lymphohistiocytosis (FHL) negative mutations. The Egyptian Journal of Medical Human Genetics. 2016. Vol. 17, no. 3, pp.277-280.
https://search.emarefa.net/detail/BIM-733795
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references : p. 279-280
Record ID
BIM-733795