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Case Report: Factor VII Deficiency Presented With Cephalohematoma After Birth
Yuan-Chun Lo1, Ching-Tien Peng1,2, Yin-Ting Chen3
1College of Medicine, China Medical University, Taichung, Taiwan.
Frontiers in Pediatrics
|November 1, 2021
Summary
Severe factor VII deficiency in a newborn presented with cephalohematoma and intracranial hemorrhage. Early high-dose factor VII replacement therapy was initiated, followed by prophylactic dosage for this rare bleeding disorder.
Area of Science:
- Genetics
- Hematology
- Neonatology
Background:
- Factor VII deficiency is a rare, autosomal recessive bleeding disorder with low prevalence.
- Severe clinical presentations are uncommon, with most cases remaining asymptomatic.
Observation:
- A newborn male presented with a large cephalohematoma after vacuum-assisted delivery.
- Progressive symptoms included poor appetite, pallor, bulging fontanelles, and hypovolemic shock, indicating intracranial hemorrhage.
Findings:
- Laboratory tests revealed severe coagulopathy with undetectable Factor VII levels (<1%).
- Genetic analysis confirmed a homozygous FVII:c 681+1 G>T mutation.
- Initial treatment with recombinant activated factor VII resolved the brain hemorrhage, but recurrent bleeding (hemothorax, intracranial hemorrhage) necessitated ongoing supplementation.
Implications:
- The FVII:c 681+1 G>T homozygous genotype can manifest as a severe neonatal phenotype.
- This case highlights the importance of prompt diagnosis and aggressive management, including factor replacement therapy, for severe factor VII deficiency.
- Long-term management requires regular factor supplementation and rehabilitation for potential neurological deficits like cerebral palsy.
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