Abstract
Constitutional factor VII deficiency is a hereditary disease with recessive autosomic transmission. Its incidence is estimated to be 1/1,000,000 in the general population. We report a case of severe factor VII deficiency in infancy revealed by an intracranial hemorrhage in a 2-month-old infant. We describe the clinical, biological and therapeutic characteristics of this disease.
MeSH terms
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Agenesis of Corpus Callosum
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Antigens / therapeutic use
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Cerebral Ventricles / pathology
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Chromosome Aberrations
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Combined Modality Therapy
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Consanguinity
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Corpus Callosum / pathology
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Echoencephalography
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Factor VII / therapeutic use
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Factor VII Deficiency / diagnosis*
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Factor VII Deficiency / genetics
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Genes, Recessive
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Genetic Carrier Screening
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Humans
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Infant
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Intracranial Hemorrhages / etiology*
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Intracranial Hemorrhages / genetics
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Intracranial Hemorrhages / surgery
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Male
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Occipital Lobe / pathology
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Recombinant Proteins / therapeutic use
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Recurrence
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Tomography, X-Ray Computed
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Ventriculoperitoneal Shunt
Substances
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Antigens
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Recombinant Proteins
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factor VII clotting antigen
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Factor VII