1/19. Alpha1-antitrypsin deficiency with fatal intracranial hemorrhage in a newborn.A 4-week-old boy had a fatal intracranial hemorrhage resulting from vitamin k deficiency. The infant had received no vitamin K prophylaxis and was exclusively breastfed. At autopsy, examination of the liver showed cholestasis and fibrosis. dna was isolated from a blood spot on a Gutherie sample card obtained from the infant for routine metabolic screening. This dna was used for alpha1-antitrypsin genotyping studies. Genotyping studies identified homozygosity for the point mutation 9989G-->A, confirming a diagnosis of alpha1-antitrypsin deficiency (ZZ phenotype), and resulted in appropriate screening of siblings born after this child's death. Alpha1-antitrypsin deficiency should be considered in the differential diagnosis of infants with late hemorrhagic disease of the newborn. Use of blood from the metabolic screening card as a source of dna allowed confirmation of this diagnosis after the infant's death.- - - - - - - - - - ranking = 1keywords = vitamin, deficiency (Clic here for more details about this article) |
2/19. Severe factor v deficiency and neonatal intracranial haemorrhage: a case report.We report a case of severe factor V (FV) deficiency (<1%) associated with multiple episodes of intracranial bleeding which presented at birth. The clinical course was further complicated by the development of an inhibitor, episodes of sepsis and cardiac failure. The management using virally inactivated FFP and platelets is discussed.- - - - - - - - - - ranking = 0.53098880947737keywords = deficiency (Clic here for more details about this article) |
3/19. Clinical efficacy and recovery levels of recombinant FVIIa (NovoSeven) in the treatment of intracranial haemorrhage in severe neonatal FVII deficiency.The use of replacement FVII is critical to the successful treatment of life-threatening bleeds in newborns and infants with severe FVII deficiency (<1%). However, the clinical efficacy, optimum dosage and pharmacologic recovery of rFVIIa in such children has not been studied systematically. This report is a case of an infant with severe FVII deficiency (FVII:C at 0%) and massive intracranial haemorrhage in which successful use of rFVIIa (NovoSeven) was carefully monitored. The drug was administered by intravenous bolus through a central line every 4 h at each of three dose levels: 15 microg kg-1, 22 microg kg-1 and 30 microg kg-1. FVII:C was >100% between 30 and 180 min after each infusion with mean trough levels above 25% for all three dose levels. There was no evidence of hyper-coagulation as indicated by measurements of the platelet count, D-dimer, plasma protamine paracoagulant and fibrinogen levels in spite of high FVII:C concentration. In this infant, rFVIIa was well-tolerated, maintained effective haemostasis with good clinical outcome, and produced consistent therapeutic mean trough levels above 25% FVII:C even at 15 microg kg-1 every 4 h.- - - - - - - - - - ranking = 0.63718657137284keywords = deficiency (Clic here for more details about this article) |
4/19. Bleeding risk and reproductive capacity among patients with factor xiii deficiency: a case presentation and review of the literature.factor xiii deficiency is an uncommon, inherited bleeding disorder that usually manifests in infancy or early childhood, involving both boys and girls. We present the case of a woman who had experienced two previous intracranial bleeding events, and was treated before and during her current pregnancy with factor XIII concentrate. Her pregnancy was successful, and she experienced an uncomplicated vaginal delivery. To better understand the issues surrounding bleeding, reproductive capacity, and management of factor xiii deficiency during pregnancy, we conducted a systematic literature review using medline from 1966 to December 1998. We also examined the bibliographic references from all articles, and included all cases, case reports, or case series of patients with factor xiii deficiency. We retrieved data on 117 patients from 37 articles, the majority of which had type II deficiency. Among untreated patients with type II factor xiii deficiency, the literature suggests an elevated mortality rate due to uncontrolled bleeding and intracranial hemorrhage. Because of its high degree of efficacy, the evidence supports the use of life long prophylactic therapy with at least monthly infusions of factor XIII concentrate, including during pregnancy. The opinion that women with type II factor xiii deficiency have inevitable recurrent abortions, or that men are sterile, is not well substantiated. No data were found on whether treatment alters male reproductive capacity. A policy of universal factor XIII replacement, starting in childhood, will likely enable more patients to attain reproductive status. The development of an international data registry would optimally address both bleeding risk and reproductive capacity among patients with factor xiii deficiency.- - - - - - - - - - ranking = 1.1681753808502keywords = deficiency (Clic here for more details about this article) |
5/19. Parietal pseudofracture and spontaneous intracranial hemorrhage suggesting nonaccidental trauma: report of 2 cases.Massive intracranial hemorrhage, no history of trauma and radiographic findings that were initially interpreted as linear parietal fractures raised the possibility of nonaccidental trauma in 2 infants. Both had severe coagulopathy, 1 due to hemorrhagic disease of the newborn (vitamin k deficiency) and the other due to disseminated herpes simplex virus infection. Both infants died. At autopsy, the parietal bone abnormalities were not fractures, but proved to be an anomalous suture in 1 and a connective tissue fissure in the other.- - - - - - - - - - ranking = 0.23450559526132keywords = vitamin, deficiency (Clic here for more details about this article) |
6/19. Possible linkage of amprenavir with intracranial bleeding in an hiv-infected hemophiliac.The use of protease inhibitors (PI) has been associated with many adverse effects including increased tendency to bleed, which is particularly problematic in individuals with congenital coagulation disorders. We report the occurrence of spontaneous intracranial bleeding in an human immunodeficiency virus (hiv)-infected adolescent with hemophilia a who was receiving amprenavir (APV). The bleeding resolved on discontinuation of APV. This case report highlights a need for awareness of increased bleeding as a potentially serious complication associated with the use of all currently licensed PIs in individuals with hemophilia.- - - - - - - - - - ranking = 0.10619776189547keywords = deficiency (Clic here for more details about this article) |
7/19. Severe factor vii deficiency with recurrent intracranial haemorrhages owing to double heterozygosity for a splice site mutation of an IVS4 and a novel nonsense mutation in exon 8 (Gln211-->Term).Genetic analysis of a 10-month-old Japanese baby boy with recurrent intrathoracic bleeding, cerebral haemorrhages and gastrointestinal bleeding secondary to severe factor VII (FVII) deficiency revealed evidence of two distinct mutations of FVII: a splice site mutation of G-->A at nucleotide 6071 in the IVS4 splice site and a novel nonsense mutation (Gln211-->Term) in exon 8. His bleeding was difficult to control without prophylactic infusion of FVII. We detected a heterozygous splice site mutation of the IVS4 in his mother and a heterozygous nonsense mutation in exon 8 (Gln211-->Term) in his father. The parents' FVII levels are both 50% of normal controls. The FVII:C in plasma from the proband was < 1.5% of normal controls. FVII:antigen (Ag) was < 1% of normal controls, using a monoclonal antibody (mAb) hVII-B101/1 that specifically reacts with FVII epidermal growth factor 1 (EGF-1), and 5% of normal controls, using a rabbit polyclonal antibody against human FVII. After immunoadsorption with mAb hVII-B101/B1-sepharose 4B, FVII levels of both the proband and his mother were 5% of normal controls; after immunoadsorption the FVII levels of normal subjects were < 1%. We hypothesize that secretion of a small amount of dysfunctional FVII lacking EGF-1 into the circulation accounts for this observation.- - - - - - - - - - ranking = 0.53098880947737keywords = deficiency (Clic here for more details about this article) |
8/19. Intrauterine correction of factor viii (FVIII) deficiency.This is the first published report documenting the successful use of intrauterine infusion of factor viii (FVIII) in order to reduce the risk of intracranial haemorrhage in a foetus with documented haemophilia A. This approach provides another option for management of newborns with documented coagulation factor deficiency. The subsequent development of an inhibitor directed against FVIII is believed to be related to exposure to exogenous FVIII in the presence of an inversion mutation and not to the intrauterine procedure.- - - - - - - - - - ranking = 0.53098880947737keywords = deficiency (Clic here for more details about this article) |
9/19. A rare cause of intracranial hemorrhage: factor x deficiency.Congenital factor x deficiency is a rare inherited coagulation disorder, characterized by prolonged prothrombin time and partial thromboplastin time. For the definite diagnosis, specific factor X level should be investigated. We describe a patient with factor x deficiency who had intracranial hemorrhage. hematologic tests showed prolonged prothrombin time, partial thromboplastin time, and a factor X level of 5%. The patient's hemorrhage resolved with fresh frozen plasma replacement. In this article, we discuss the clinical features and management of factor x deficiency.- - - - - - - - - - ranking = 0.74338433326831keywords = deficiency (Clic here for more details about this article) |
10/19. Unusual presentation of factor xiii deficiency.factor xiii deficiency is a rare inherited bleeding disorder that is often difficult to diagnose. The standard screening tests are normal in these patients and their bleeding phenotype may be variable. We report the case of a 3-year-old girl who presented with an intracranial haemorrhage. Several confounding factors, such as the suspicion of an arteriovenous malformation and the development of a deep venous thrombosis, led to a delay in the diagnosis of factor xiii deficiency. Subsequently, her brother was also found to have severe factor xiii deficiency. This case highlights the importance of a detailed history and of screening families in which index cases have been identified. It should also remind physicians that bleeding disorders may have unusual presentations and should be sought when investigating unexplained bleeding.- - - - - - - - - - ranking = 0.74338433326831keywords = deficiency (Clic here for more details about this article) |
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