Factor VII deficiency revealed by intracranial hemorrhage

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 d...

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Veröffentlicht in:	Archives de pédiatrie : organe officiel de la Société française de pédiatrie 2009-07, Vol.16 (7), p.1024-1027
Hauptverfasser:	Sfaihi Ben Mansour, L, Thabet, A, Aloulou, H, Turki, H, Chabchoub, I, Mhiri, F, Mnif, Z, Ben Ali, H, Kammoun, T, Hachicha, M
Format:	Artikel
Sprache:	fre
Schlagworte:	Agenesis of Corpus Callosum Antigens - therapeutic use Cerebral Ventricles - pathology Chromosome Aberrations Combined Modality Therapy Consanguinity Corpus Callosum - pathology Echoencephalography Factor VII - therapeutic use Factor VII Deficiency - diagnosis Factor VII Deficiency - genetics Genes, Recessive Genetic Carrier Screening Humans Infant Intracranial Hemorrhages - etiology Intracranial Hemorrhages - genetics Intracranial Hemorrhages - surgery Male Occipital Lobe - pathology Recombinant Proteins - therapeutic use Recurrence Tomography, X-Ray Computed Ventriculoperitoneal Shunt
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Zusammenfassung:	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.
ISSN:	1769-664X
DOI:	10.1016/j.arcped.2009.03.009