ArticleFrontiers in pediatrics2026
Case Report: Hereditary thrombotic thrombocytopenic purpura mimicking immune thrombocytopenia: diagnostic pitfalls of whole-exome sequencing.
Article in Frontiers in pediatrics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Herein, we describe a 22-month-old girl who presented with isolated severe thrombocytopenia (nadir platelet count: 6 × 10⁹/L) without overt microangiopathic hemolysis. The patient exhibited a partial clinical response to both corticosteroids and intravenous immunoglobulin (IVIG). Bone marrow examination showed increased megakaryocytes, with platelet-producing megakaryocytes accounting for 15% of the total megakaryocyte population. Initial whole-exome sequencing (WES) yielded negative findings for definitive pathogenic variants and clinically significant copy number variations (CNVs). Subsequent targeted genetic testing identified compound heterozygous ADAMTS13 variants: a paternally derived heterozygous exon 8 deletion validated by quantitative PCR (qPCR), and a maternally derived heterozygous frameshift mutation c.2764_2767dup (p.Ala923ValfsTer66) in exon 22 confirmed by Sanger sequencing. Functional analysis revealed severely diminished ADAMTS13 activity (0.23%) with undetectable inhibitory antibodies. The patient's family history was remarkable for a first-trimester miscarriage and a previous neonatal death attributed to severe thrombocytopenia complicated by pulmonary hemorrhage. This case highlights two critical diagnostic pitfalls of pediatric hTTP: atypical presentation with isolated thrombocytopenia and misleading partial responsiveness to immunosuppressive therapy. In addition, routine WES has inherent limitations in detecting exon-level CNVs and certain frameshift variants. For children with unexplained recurrent thrombocytopenia and a suggestive familial bleeding history, ADAMTS13 functional assessment and targeted genetic sequencing should be performed promptly, even if initial WES results are unremarkable.
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