• Title/Summary/Keyword: Congenital bleeding disorder

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Orthognathic surgery in a patient with Factor VII deficiency: A Case Report (응고인자 VII 부족 환자에서의 악교정 수술: 증례보고)

  • Baek, Rong Min;Oh, Myung June;Lee, Sang Woo
    • Archives of Plastic Surgery
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    • v.36 no.1
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    • pp.93-95
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    • 2009
  • Purpose: Congenital factor VII (FVII) deficiency is a rare bleeding disorder and surgery can cause excessive bleeding due to an extrinsic pathway problem. It can be diagnosed by increased PT and decreased FVII level in coagulation test. Symptom varies according to the level of FVII, but it is essential to prevent intraoperative excessive bleeding. Methods: In this report, we described the orthognatic surgery experience in a mandibular prognathism patient with congenital FVII deficiency, in which recombinant activated factor VII (rFVIIa) was used to manage the bleeding. Rsults: We could get a successful result without any complication and there was minimal intraoperative bleeding. Conclusion: The orthognathic surgery could therefore be safely performed in patients with congenital factor VII deficiency using rFVIIa.

Splenic Rupture in Congenital Afibrinogenemia (선천성 무섬유소원혈증 환자에 발생한 비장 파열의 치료)

  • Kim, Dae-Yeon;Kim, Seong-Chul;Kim, In-Koo
    • Advances in pediatric surgery
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    • v.5 no.2
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    • pp.137-140
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    • 1999
  • Congenital afibrinogenemia is a rare disorder characterized by a congenital lack of fibrinogen, a key component of the hemostatic system. Bleeding manifestations of congenital afibrinogenemia vary in severity from mild to catastrophic. This is a case report of splenic rupture occurred in an eight-year-old boy with congenital afibrinogenemia. Nonoperative treatment with cryoprecipitate and virally inactivated, purified fibrinogen concentrates successfully avoided splenectomy.

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Disorders in Hemostasis

  • Sung, Tae-Jung
    • Neonatal Medicine
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    • v.18 no.1
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    • pp.14-22
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    • 2011
  • Neonatal bleeding is a common problem encountered in nursery rooms or neonatal intensive care units, especially among premature infants. Furthermore, owing to recent remarkable improvement of neonatology, survival rates of preterm neonates have increased; hence, neonatal bleeding cannot be emphasized enough. Since the total blood volume of neonates is small, bleeding can be one of the causes of morbidities and mortalities. Therefore, rapid diagnosis and immediate therapy is urgently needed. The patient's medical history including a familial history of a bleeding disorder or of a previously affected infant who suffered from bleeding along with maternal and neonatal drugs can provide important diagnostic clues. Presence of bleeding with or without petechiae and ecchymoses in a healthy term or late preterm infant with thrombocytopenia but normal prothrombin time and activated partial thromboplastin time strongly suggests a congenital bleeding disorder. For a sick infant who is bleeding from multiple sites, an acquired disorder such as disseminated intravascular coagulation is suspected. Intracranial hemorrhage in term or late preterm infants without a history of birth trauma is highly suggestive of coagulation disorders. The purpose of this review is to summarize recent advances in diagnostic methods is as well as basic concepts of neonatal hemostatic disorders. First, an outline of background information will be presented followed by a discussion of primary and secondary hemostatic disorders as well as inherited and acquired disorders.

A case of intracranial hemorrhage in a neonate with congenital factor VII deficiency

  • Lee, Won-Seok;Park, Young-Sil
    • Clinical and Experimental Pediatrics
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    • v.53 no.10
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    • pp.913-916
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    • 2010
  • Congenital factor VII deficiency is a rare autosomal-recessive bleeding disorder. Bleeding manifestations and clinical findings vary widely, ranging from asymptomatic subjects to patients with hemorrhages that may cause significant handicaps. Treatment has traditionally involved factor VII(FVII) replacement therapy using fresh frozen plasma, prothrombin complex concentrates or plasma-derived FVII concentrates. Recombinant activated FVII ($NovoSeven^{(R)}$) is currently considered the first-line treatment for replacement therapy of FVII deficiency. Here we present a case of severe intracerebral and intraventricular hemorrhage in a neonate with congenital FVII deficiency.

A Case of Congenital Hepatic Fibrosis with Variceal Bleeding (식도 정맥류 출혈을 동반한 간섬유증 1례)

  • Shin, Dong Soo;Lim, Si Hong
    • Pediatric Gastroenterology, Hepatology & Nutrition
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    • v.7 no.1
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    • pp.98-101
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    • 2004
  • Congenital hepatic fibrosis is an inherited, congenital disorder of the liver characterized by portal hypertension and hepatic fibrosis. We experienced a case of congenital hepatic fibrosis with esophageal varix in a 9-year-old male. He complained hematemesis, hematochezia, dizziness. In laboratory examination, AST/ALT was slightly increased. Esophageal varix was noted by an endoscopic examination. Hepatosplenomegaly and hypoechoic lesion of periportal area were seen by abdominal CT scanning. Histologic finding of liver biopsy showed fibrous tracts containing dilated bile ductules connecting adjacent portal spaces that were widened by mature fibrosis. Endocopic sclerotherpy and ligation was done. We summarized a case with review of literatures

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Diagnosis and Management of Post-Partum Hemorrhage Caused by Acquired Hemophilia A: A Case Report

  • Rashid, Nawshirwan G.;Amin, Shaema Salih;Abdulqader, Aveen M. Raouf
    • Korean Journal of Clinical Laboratory Science
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    • v.54 no.2
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    • pp.163-166
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    • 2022
  • Acquired hemophilia A (AHA) is an uncommon autoimmune bleeding disorder in which autoantibodies that affect the functions of factor VIII (FVIII) are present in the blood. The initial diagnosis of AHA is difficult as the presentations of AHA differ from those of congenital hemophilia A. Moreover, the treatment of AHA is more complex due to the presence of autoantibodies against FVIII. Here, we present a case report of postpartum AHA, to increase the perception and knowledge regarding the recognition and management of such cases. We present a young female with the chief complaint of vaginal bleeding and upper arm ecchymosis. Laboratory results exhibited isolated prolonged activated partial thromboplastin time (APTT) and FVIII inhibitors. The patient was treated with corticosteroids, FVIII concentrates, and a bypassing agent. In conclusion, unexplained postpartum bleeding, unmanageable with basic hemostatic measures, should lead to clinical suspicion of an acquired bleeding disease.

Genetic classification and confirmation of inherited platelet disorders: current status in Korea

  • Shim, Ye Jee
    • Clinical and Experimental Pediatrics
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    • v.63 no.3
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    • pp.79-87
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    • 2020
  • Inherited platelet disorders (IPDs), which manifest as primary hemostasis defects, often underlie abnormal bleeding and a family history of thrombocytopenia, bone marrow failure, hematologic malignancies, undefined mucocutaneous bleeding disorder, or congenital bony defects. Wide heterogeneity in IPD types with regard to the presence or absence of thrombocytopenia, platelet dysfunction, bone marrow failure, and dysmegakaryopoiesis is observed in patients. The individual processes involved in platelet production and hemostasis are genetically controlled; to date, mutations of more than 50 genes involved in various platelet biogenesis steps have been implicated in IPDs. Representative IPDs resulting from defects in specific pathways, such as thrombopoietin/MPL signaling; transcriptional regulation; granule formation, trafficking, and secretion; proplatelet formation; cytoskeleton regulation; and transmembrane glycoprotein signaling are reviewed, and the underlying gene mutations are discussed based on the National Center for Biotechnology Information database and Online Mendelian Inheritance in Man accession number. Further, the status and prevalence of genetically confirmed IPDs in Korea are explored based on searches of the PubMed and KoreaMed databases. IPDs are congenital bleeding disorders that can be dangerous due to unexpected bleeding and require genetic counseling for family members and descendants. Therefore, the pediatrician should be suspicious and aware of IPDs and perform the appropriate tests if the patient has unexpected bleeding. However, all IPDs are extremely rare; thus, the domestic incidences of IPDs are unclear and their diagnosis is difficult. Diagnostic confirmation or differential diagnoses of IPDs are challenging, time-consuming, and expensive, and patients are frequently misdiagnosed. Comprehensive molecular characterization and classification of these disorders should enable accurate and precise diagnosis and facilitate improved patient management.

A Case of Congenital Factor VII Deficiency Presented with Subacute Subdural Hematoma

  • Kim, Min-Kyoung;Shin, Sang-Jun;Kim, Kyung-Ok;Lee, Kyung-Hee;Hyun, Myung-Soo;Cho, Hee-Soon
    • Journal of Yeungnam Medical Science
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    • v.21 no.2
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    • pp.231-236
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    • 2004
  • A congenital factor VII deficiency is a rare disorder with an estimated incidence in the western contries of one in 500,000. Because factor VII is important in initiation the coagulation cascade, a factor VII deficiency can result in significant bleeding with prolongation of the prothrombin time. We present a case of a factor VII deficiency with a subdural hematoma in an 18-year-old boy whose plasma activity of factor VII was ${\leq}10%$. Previously, he did not have any symptoms, such as hemarthrosis, easy bruising or bleeding after a minor trauma. He was administered fresh frozen plasma and a trephination was performed. His sister also had 51% lower level of factor VII.

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A Case Report of Noonan Syndrome with Mental Retardation and Attention-Deficit Hyperactivity Disorder (정신지체와 주의력결핍 과잉행동장애를 보이는 Noonan 증후군 1예)

  • Kim, Won-Woo;Shim, Se-Hoon
    • Journal of the Korean Academy of Child and Adolescent Psychiatry
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    • v.23 no.1
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    • pp.31-35
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    • 2012
  • Noonan syndrome is characterized by short stature, typical facial dysmorphology, and congenital heart defects. The main facial features of Noonan syndrome are hypertelorism with down-slanting palpebral fissures, ptosis, and low-set posteriorly-rotated ears with a thickened helix. The cardiovascular defects most commonly associated with this condition are pulmonary stenosis and hypertrophic cardiomyopathy. Other associated features are webbed neck, chest deformity, mild intellectual deficit, cryptorchidism, poor feeding in infancy, bleeding tendency, and lymphatic dysplasias. The patient is a 10-year-old boy. He had experienced repeated febrile convulsions. He had typical facial features, a short stature, chest deformity, cryptorchidism, vesicoureteral reflux, and mental retardation. His language and motor development were delayed. When he went to school, it was difficult for him to pay attention, follow directions, and organize tasks. He also displayed behavior such as squirming, leaving his seat in class, and running around inappropriately. Clinical observation is important for the diagnosis, so we report a patient who was diagnosed with Noonan syndrome, mental retardation, and attention-deficit hyperactivity disorder.

Dental Management in a Patient with Glanzmann's Thrombasthenia : A Case Report (글란즈만 혈소판무력증 환자의 치과적 관리)

  • Han, Miran;Kim, Jongsoo
    • Journal of the korean academy of Pediatric Dentistry
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    • v.47 no.3
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    • pp.352-358
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    • 2020
  • Glanzmann's thrombasthenia (GT) is a rare, autosomal recessive inherited congenital disorder, characterized by impaired blood coagulation due to platelet dysfunction. It was first reported by the pediatrician Glanzmann in 1918. GT affects both males and females, and it is more common in regions of the Middle East, India, and France, where intermarriage is common. It has an incidence of about 1 in 1,000,000 people. In South Korea, according to the Division of Rare Diseases, Korea Centers for Disease Control and Prevention, around 200 cases have been reported in 2018. Clinical symptoms include petechia, ecchymosis, epistaxis, and gingival bleeding. The spontaneous loss of deciduous teeth can result in excessive bleeding with that blood transfusion should be considered. Preventing hemorrhages and hemostasis are most important factors in dental treatment. Local bleeding can be controlled by compression, but platelet transfusion can be required by prolonged bleeding. Pediatric dentists can minimize the gingival bleeding by control of the oral hygiene to prevent gingivitis and dental caries. The importance of oral hygiene and periodic recall check-up should be emphasized. During dental treatment, the examination and the treatment plan of patient should be modified to prevention of hemorrhages carefully. A 6-year-old girl with GT was referred for the treatment of dental caries, and resin restoration was performed under nitrous oxide inhalation sedation. After treatment, compression was required for the bleeding control.