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  • Title: Central nervous system involvement in a case of familial hemophagocytic lymphohistiocytosis with perforin mutation.
    Author: Akbayram S, Akgun C, Dogan M, Caksen H, Okur H, Oner AF.
    Journal: Genet Couns; 2011; 22(3):281-5. PubMed ID: 22029169.
    Abstract:
    Familial hemophagocytic lymphohistiocytosis (FHL) is a rare autosomal recessive lethal condition characterized by fever, cytopenia, hepatosplenomegaly and hemophagocytosis. The presence of central nervous system involvement has a profound impact on the prognosis, treatment, and clinical outcome of the disease. Therefore, the identification of the clinical manifestations of the disease and the characterization of the accompanying neurological symptoms are of prime importance for the rapid diagnosis and subsequent clinical management of the disease. Herein, we report a case of FHL with homozygosity for perforin gene mutation, who presented with central nervous system involvement in the absence of systemic findings.
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