GNE-related thrombocytopenia (Thrombocytopenia-12) in a 3-month-old from a Middle Eastern background infant: a case report.
Omar Ahmed Alshaikhi, Elaf Yahia Faraj Alnasser
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Case in brief
A 3-month-old infant of Middle Eastern background presented with severe thrombocytopenia (platelet count 6,000/μL) and neutropenia. Bone marrow examination showed megakaryocytic hypoplasia, initially suggesting congenital amegakaryocytic thrombocytopenia (CAMT). Genetic testing instead identified a homozygous pathogenic GNE variant (NM_001128227.2:c.1768G > A, p.Gly590Arg), confirming GNE-related thrombocytopenia (Thrombocytopenia-12, THC12). Management included intravenous immunoglobulin, platelet transfusions, and thrombopoietin receptor agonists; evaluation for possible hematopoietic stem cell transplantation was also undertaken.
What made this case unusual
The marrow findings initially pointed toward CAMT, but genetic testing established THC12, illustrating how overlapping presentations can obscure the underlying congenital thrombocytopenia.
Diagnostic / clinical pearl
In an infant with congenital thrombocytopenia and megakaryocytic hypoplasia, genetic testing can distinguish THC12 from CAMT and inform management and family counseling.
Why it matters
The report notes that long-term monitoring is warranted because myopathy may develop later, even when initial manifestations are limited to the hematologic system.