Intracranial Hemorrhage as the First Manifestation of Severe Congenital Factor X Deficiency in a 20‐Month‐Old Male: Case Report and Review of the Literature

Diesch, Tamara; Weid, Nicolas X. von der; Schifferli, Alexandra; Kühne, Thomas

doi:10.1002/pbc.25966

Cited by 4 publications

(1 citation statement)

References 31 publications

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“…Three of the four patients in this series suffered from acute ICH with the fourth patient having intrauterine ICH. ICH occurs in 9% to 26% of patients with FXD and often presents spontaneously in the neonatal period 23 . This early presentation of severe bleeding emphasizes the importance of evaluating pdFX in neonates and infants.…”

Section: Resultsmentioning

confidence: 99%

Use of plasma‐derived factor X concentrate in neonates and infants with congenital factor X deficiency

Zimowski

McGuinn

Abajas

et al. 2020

Journal of Thrombosis and Haemostasis

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Congenital factor X deficiency (FXD) is an autosomal recessive bleeding disorder caused by mutations in the F10 gene with a prevalence of 1:1 000 000. 1 FXD is one of the most severe rare bleeding disorders, and the bleeding phenotype correlates well with plasma FX activity levels (FX:C). Patients with severe FXD often present in the neonatal period with umbilical stump bleeding or intracranial hemorrhage (ICH). Throughout life, these patients can experience hemarthroses, intramuscular hematomas, and gastrointestinal bleeding. Patients with moderate or mild FXD manifest mucocutaneous bleeding and excessive traumatic and postsurgical bleeding. 2-4 Long-term prophylaxis with infusions of FX-containing products is recommended in patients with FXD and a personal or family history of severe bleeding. 1,5-7 Until recently, fresh frozen plasma (FFP) or prothrombin complex concentrates (PCCs) were the primary source of FX infusions. Because of the

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Section: Resultsmentioning

confidence: 99%