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Factor X deficiency presenting as a pseudotumor. Case report
Jecko V Thachil1, Mark Caswell, Russell Keenan
1Department of Haematology, Royal Liverpool Children's Hospital NHS Trust, Alder Hey, Liverpool, United Kingdom.
Insights
Congenital factor X deficiency can cause spontaneous intracerebral hemorrhage in infants. Early diagnosis and treatment are crucial for complete recovery and normal development.
Area of Science:
- Pediatric Neurology
- Hematology
- Medical Genetics
Background:
- Spontaneous intracerebral hemorrhage in infants is a rare and serious condition.
- Differential diagnosis often includes brain tumors, but underlying coagulopathies should also be considered.
Observation:
- A 15-week-old infant presented with coma due to spontaneous intracerebral hemorrhage.
- Initial imaging suggested a right frontal lobe tumor; coagulation studies were abnormal.
- The infant underwent emergency craniotomy for hematoma evacuation and biopsy.
Findings:
- Postoperative recovery was complete.
- Detailed coagulation studies identified congenital factor X deficiency.
- Histological analysis revealed normal brain tissue with hemorrhagic infiltration, ruling out a tumor.
Implications:
- Congenital bleeding disorders, such as factor X deficiency, must be considered in the evaluation of infantile intracerebral hemorrhage.
- Prompt diagnosis and management of coagulopathies can lead to favorable neurological outcomes.
- This case highlights the importance of comprehensive coagulation screening in neonates and infants with unexplained intracranial bleeding.
Abstract:
The authors report their experience in successfully treating a 15-week-old child who became comatose following a spontaneous intracerebral hemorrhage. It was initially believed that a tumor in the right frontal lobe caused the hemorrhage. Coagulation studies revealed abnormal results on presentation, and the problem was only partially corrected after an infusion of fresh frozen plasma. The child underwent an emergency craniotomy in which the hematoma was evacuated, and a biopsy specimen was obtained from a firm mass at the base of the hematoma cavity. Postoperatively, the child recovered completely, and an analysis of detailed coagulation studies revealed that the child had a factor X deficiency. Histological analysis of the biopsy specimen revealed normal brain tissue with hemorrhagic infiltration. Subsequently, the child achieved normal developmental milestones. A diagnosis of congenital bleeding disorder should be considered in children with spontaneous intracerebral hemorrhage, even in those with no prior episode of extracerebral spontaneous hemorrhage.