Related Experiment Video

Updated: May 11, 2026

Tail Vein Transection Bleeding Model in Fully Anesthetized Hemophilia A Mice
08:13

Tail Vein Transection Bleeding Model in Fully Anesthetized Hemophilia A Mice

Published on: September 30, 2021

Spontaneous epidural hematoma in a child with inherited factor XIII deficiency

Roula A Farah1, Jad Z Al Danaf, Rita A Chahinian

  • 1Departments of *Pediatrics ‡Laboratory Medicine §Neurosurgery, University Medical Center-Rizk Hospital, Beirut, Lebanon †Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, U.O.S. Dipartimentale per la, Diagnosi e la Terapia delle Coagulopatie, Fondazione IRCCS Cà Granda - Ospedale Maggiore, Policlinico, and Luigi Villa Foundation, Milan, Italy.

Journal of Pediatric Hematology/Oncology
|April 27, 2013
PubMed

Insights

A child with congenital factor XIII (FXIII) deficiency experienced a spontaneous epidural hematoma after missing prophylactic doses. This case highlights the critical need for consistent FXIII replacement therapy to prevent severe bleeding events.

Area of Science:

  • Pediatric Hematology
  • Neurology
  • Genetics

Background:

  • Congenital factor XIII (FXIII) deficiency is a rare bleeding disorder.
  • Prophylactic treatment with FXIII concentrate is essential for managing FXIII deficiency.
  • Missed prophylactic doses can increase the risk of bleeding complications.

Observation:

  • A 2-year-old boy with known congenital FXIII deficiency presented with somnolence and vomiting.
  • The child had missed two scheduled prophylactic FXIII doses due to supply issues.
  • Imaging revealed an epidural hematoma with midline shift, indicating a serious intracranial bleed.

Findings:

  • The patient received immediate FXIII replacement therapy and underwent a craniotomy for hematoma evacuation.
  • DNA analysis identified a previously reported mutation (c.1475-1476delGA) in exon 12, confirming the genetic basis of FXIII deficiency.
  • This is the first reported case of spontaneous, non-traumatic epidural hematoma in a child with congenital FXIII deficiency.

Implications:

  • This case underscores the critical importance of consistent, lifelong prophylactic FXIII replacement therapy.
  • Adherence to prophylaxis is vital for reducing the morbidity and mortality associated with FXIII deficiency, particularly intracranial hemorrhages.
  • Early diagnosis and management are crucial for preventing life-threatening bleeding events in patients with FXIII deficiency.

More Related Videos

Measurement of Factor V Activity in Human Plasma Using a Microplate Coagulation Assay13:08

Measurement of Factor V Activity in Human Plasma Using a Microplate Coagulation Assay

Published on: September 9, 2012

Related Concept Videos

Disorders of Hemostasis01:24

Disorders of Hemostasis

Hemostasis, the process that stops bleeding after a blood vessel injury, is crucial for maintaining the integrity of the circulatory system. However, disorders of hemostasis can disrupt this delicate balance, leading to either excessive clotting or bleeding. These disorders can be broadly classified into thromboembolic disorders and bleeding disorders.
Thromboembolic Disorders
Two factors primarily cause thromboembolic conditions.
Hemorrhagic Stroke ll: Pathophysiology01:29

Hemorrhagic Stroke ll: Pathophysiology

A hemorrhagic stroke develops when a cerebral blood vessel ruptures, allowing blood to escape into the surrounding brain tissue, as in intracerebral hemorrhage (ICH), or into the subarachnoid space, as in subarachnoid hemorrhage (SAH). Because the skull is a rigid compartment, the sudden presence of extravascular blood rapidly increases intracranial pressure and compresses adjacent neural structures, leading to immediate tissue injury and impaired cerebral perfusion.Mass Effect and Primary...
Extrinsic and Intrinsic Pathways of Hemostasis01:20

Extrinsic and Intrinsic Pathways of Hemostasis

Blood clotting or coagulation involves extrinsic and intrinsic pathways, which ultimately merge into the common pathway, forming a fibrin clot.
The Extrinsic Pathway
The extrinsic pathway of coagulation is typically initiated by tissue damage that exposes blood to tissue factor (TF), a protein released by the damaged tissue cells outside the blood vessels—this interaction with TF triggers biochemical reactions involving specific clotting factors. The key player here is Factor VII, which forms a...
Hemorrhagic Stroke l: Introduction01:17

Hemorrhagic Stroke l: Introduction

A hemorrhagic stroke is an acute neurological event that occurs when a weakened cerebral blood vessel ruptures, allowing blood to accumulate within or around the brain. The sudden release of blood forms a focal hematoma that increases intracranial pressure, displaces neural tissue, and can obstruct cerebrospinal fluid pathways. These effects may be compounded by intraventricular extension of the hemorrhage, cerebral edema, or compression of adjacent structures, all of which contribute to...
Venous Thrombosis III: Interprofessional Care01:29

Venous Thrombosis III: Interprofessional Care

Venous thrombosis requires effective prevention and treatment strategies to improve patient outcomes and reduce potential complications.Prevention StrategiesHealthcare providers must prioritize preventing venous thromboembolism (VTE) for all adult patients upon admission. Interventions depend on bleeding and thrombosis risk, medical history, current medications, diagnoses, planned procedures, and patient preferences. Patients on bed rest should change positions every two hours and, if not...
Anticoagulant Drugs: Low-Molecular-Weight Heparins01:30

Anticoagulant Drugs: Low-Molecular-Weight Heparins

Hemostasis is a crucial process that prevents excessive blood loss from damaged blood vessels. It involves various mechanisms such as vasoconstriction, platelet adhesion and activation, and fibrin formation. The importance of each mechanism depends on the type of vessel injury. In contrast, thrombosis is the abnormal formation of a blood clot within the blood vessels, leading to potential complications if the clot obstructs blood flow. Thrombosis can be caused by increased coagulability of the...