Congenital Factor X Deficiency: Diagnosis of a Rare Case in African Pediatric Practice

Idrissa Basse¹*, Ali Bido Sibabi¹, Falikou Diaby¹, Mame Cire Sagna¹, Dina Obambi¹, Najah Fatou Coly², Aliou Abdoulaye Ndongo³, Emmanuel A Bashi¹ and Ndéye Ramatoulaye Diagne Guéye¹

¹Department of Pediatrics, National University Children’s Hospital of Diamniadio,
Thiès University, Senegal
²Department of Biology, National University Children’s Hospital of Diamniadio,
Thiès University, Senegal
³Department of Pediatrics, Abass Ndao Hospital, Cheikh Anta Diop University,
Dakar, Senegal

*Corresponding Author: Idrissa BASSE, Department of Pediatrics, National Univer- sity Children’s Hospital of Diamniadio, Thiès University, Senegal.

Received: December 29, 2025; Published: January 31, 2026

Abstract

Introduction: Congenital factor X deficiency is a rare inherited bleeding disorder with autosomal recessive transmission, affecting fewer than one in 500,000 individuals. It affects both sexes equally and is more frequently encountered in populations with a high rate of consanguinity. We report the case of a male neonate hospitalized at the Children’s Hospital of Diamniadio (Dakar).
Case Report: A male newborn born to a 20-year-old primigravida and primiparous mother with no notable medical history, and with first-degree parental consanguinity. The neonate was admitted on day 1 of life for a clinical hemorrhagic syndrome associated with severe biological hemostatic abnormalities. Investigations revealed an isolated deficiency of factor X activity (Stuart factor). The clinical course was complicated by severe bleeding events related to the unavailability of specific factor replacement therapy in our setting. The infant was therefore managed with a transfusion-based protocol, which helped limit these complications. Due to limited resources, genetic testing to identify the underlying etiology could not be performed, although a hereditary cause remains highly probable given the close parental consanguinity.
Conclusion: Congenital factor X deficiency is a rare disorder with non-specific clinical manifestations, often leading to diagnostic errors. Etiological diagnosis remains challenging in low-resource settings due to limited access to specialized laboratory and genetic investigations.

Keywords: Inherited Disorder; Factor X; Coagulation; Child

References

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2. Jonnavithula N., et al. “Routine preoperative coagulation screening detects a rare bleeding disorder”.Anesthesia and Analgesia 108 (2009): 76-78.
3. Peyvandi F., et al. “Congenital factor X deficiency: spectrum of bleeding symptoms in 32 Iranian patients”.British Journal of Haematology 101 (1998): 626-628.
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5. N’Sondé-Malanda J., et al. “Congenital factor X deficiency".Annals of African Medicine 3 (2011): 887-890.
6. Jonnavithula N., et al. “Routine preoperative coagulation screening detects a rare bleeding disorder”.Anesthesia and Analgesia 108 (2009): 76-78.
7. Kumar A and Mishra D. “Hereditary coagulation factor X deficiency”.Indian Pediatrics 42 (2005): 1241-1242.
8. De Sousa C., et al. “Antenatally diagnosed subdural hemorrhage in congenital factor X deficiency”.Archives of Disease in Childhood 63 (1988): 1168-1174.
9. Ermis B. “Severe congenital factor X deficiency with intracranial bleeding in two siblings”.Brain Development 26 (2004): 137-138.
10. El Kalla S and Menon NS. “Neonatal congenital factor X deficiency”.Pediatric Hematology and Oncology 4 (1991): 347-354.

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1. Denninger MH and Huisse MG. “Hemorrhagic disorders due to congenital or acquired coagulation abnormalities (excluding hemophilia and von Willebrand disease)”. In:Encyclopédie Médico-Chirurgicale (Elsevier, Paris). Hematology. 13-021-C-10 (1997): 1-12.
2. Jonnavithula N., et al. “Routine preoperative coagulation screening detects a rare bleeding disorder”.Anesthesia and Analgesia 108 (2009): 76-78.
3. Peyvandi F., et al. “Congenital factor X deficiency: spectrum of bleeding symptoms in 32 Iranian patients”.British Journal of Haematology 101 (1998): 626-628.
4. Rezig K. “Factor X deficiency and pregnancy”.Annales Françaises d'Anesthésie et de Réanimation 6 (2002): 521-524.
5. N’Sondé-Malanda J., et al. “Congenital factor X deficiency".Annals of African Medicine 3 (2011): 887-890.
6. Jonnavithula N., et al. “Routine preoperative coagulation screening detects a rare bleeding disorder”.Anesthesia and Analgesia 108 (2009): 76-78.
7. Kumar A and Mishra D. “Hereditary coagulation factor X deficiency”.Indian Pediatrics 42 (2005): 1241-1242.
8. De Sousa C., et al. “Antenatally diagnosed subdural hemorrhage in congenital factor X deficiency”.Archives of Disease in Childhood 63 (1988): 1168-1174.
9. Ermis B. “Severe congenital factor X deficiency with intracranial bleeding in two siblings”.Brain Development 26 (2004): 137-138.
10. El Kalla S and Menon NS. “Neonatal congenital factor X deficiency”.Pediatric Hematology and Oncology 4 (1991): 347-354.

Citation

Citation: YIdrissa Basse., et al. “Congenital Factor X Deficiency: Diagnosis of a Rare Case in African Pediatric Practice". Acta Scientific Paediatrics 9.2 (2026): 01-05.

Copyright

Copyright: © 2026 YIdrissa Basse., et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.