Wolman disease in patients with familial hemophagocytic lymphohistiocytosis (FHL) negative mutations

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• 作者：Solaf Elsayed^a ; ^{elsayed683@yahoo.com" class="auth_mail" title="E-mail the corresponding author} ; Ezzat Elsobky^a ; Azza Tantawy^a ; Eman Ragab^a ; Marine Gil^b ; Nathalie Lambert^b ; Geneviè ; ve de Saint Basile^b ; ^c
• 关键词：Wolman disease ; Familial hemophagocytic lymphohistiocytosis ; Hepatomegaly ; Splenomegaly ; Fever
• 刊名：Egyptian Journal of Medical Human Genetics
• 出版年：2016
• 出版时间：July 2016
• 年：2016
• 卷：17
• 期：3
• 页码：277-280
• 全文大小：415 K

文摘

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.