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Congenital factor VII deficiency: a case report
L Zarina1, A Hamidah, J Rohana
1Department of Paediatrics, Faculty of Medicine, Universiti Kebangsaan Malaysia, Kuala Lumpur, Malaysia.
The Malaysian Journal of Pathology
|September 30, 2005
Summary
Factor VII deficiency, a rare congenital bleeding disorder, can cause serious hemorrhages. Early diagnosis in newborns with coagulopathy is crucial for timely treatment.
Area of Science:
- Hematology
- Pediatric Medicine
- Genetics
Background:
- Factor VII deficiency is a rare inherited bleeding disorder.
- Clinical manifestations are highly variable, ranging from mild bleeding to severe intracranial hemorrhage.
- Current treatments include fresh frozen plasma, prothrombin complex concentrates, or recombinant activated factor VII.
Observation:
- A newborn presented with subdural hemorrhage on the fourth day of life.
- The infant was diagnosed with Factor VII deficiency.
- This case highlights a critical presentation of a rare bleeding disorder in neonates.
Findings:
- Factor VII deficiency should be considered in the differential diagnosis of neonatal coagulopathy.
- Subdural hemorrhage can be a presenting symptom of Factor VII deficiency in newborns.
- Prompt recognition and management are essential to prevent severe complications.
Implications:
- This case underscores the importance of considering rare genetic bleeding disorders in neonates with unexplained hemorrhages.
- Early diagnosis and appropriate replacement therapy can significantly improve outcomes for affected infants.
- Further research into the long-term management and genetic counseling for Factor VII deficiency is warranted.