Cases reported "Hemophilia A"

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1/12. Idiopathic intracranial hypertension and hemophilia a.

    OBJECTIVE: A patient with hemophilia a and long-standing recurrent symptoms of idiopathic intracranial hypertension is described. During his relapses, he experienced headache, and attention and language disturbance, but no visual symptoms. BACKGROUND: hemophilia a is a rare inherited coagulation disorder secondary to factor viii deficiency. Idiopathic intracranial hypertension has been reported in association with prothrombotic conditions and iron deficiency anemia, but not in patients with hemophilia a. Recurrent or chronic headache is not a typical symptom of hemophilia, but headache is a presenting sign of intracranial bleed in persons with hemophilia. methods: Medical history review, clinical neurologic examination, brain magnetic resonance imaging, computed head tomography, and electroencephalogram were performed. RESULTS: neurologic examination revealed bilateral papilledema during relapses of idiopathic intracranial hypertension. Multiple lumbar punctures preceded by the intravenous administration of factor viii early in the course of the illness confirmed the presence of elevated cerebrospinal fluid pressures and absence of subarachnoid blood. He had no complications from lumbar punctures. Initial electroencephalograms showed background slowing but later normalized. magnetic resonance imaging of the brain and computerized tomography of the head were normal. Relapses of idiopathic intracranial hypertension were eventually controlled with the administration of acetazolamide. CONCLUSION: Idiopathic intracranial hypertension may develop in patients with hemophilia a in the absence of visual symptoms. Therapeutic and diagnostic lumbar punctures were safe to perform on this patient, following the administration of factor viii.
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2/12. acupuncture used in the management of pain due to arthropathy in a patient with haemophilia.

    A case report is presented of a haemophilia patient, with pains due to arthropathy, being successfully treated with acupuncture. acupuncture may have something to offer this type of patient in terms of pain management and reduction of strong analgesics. Treatment should be performed only by practitioners with special training in acupuncture, and close co-operation with a haemophilia clinic is necessary.
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3/12. Endovascular management of a mandibular arteriovenous malformation in a patient with severe hemophilia a.

    The unusual case of a mandibular arteriovenous malformation in a patient with severe hemophilia a and hepatitis c is reported. Supplementary substitution of various coagulation factors allowed direct puncture and intralesional injection of a liquid adhesive, resulting in complete anatomic and clinical cure without peri- or postoperative bleeding. Replacement therapy providing normal levels of relevant coagulation factors enables endovascular treatment in a safe and effective manner in hemophiliac patients.
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4/12. Rapid decrease in high titer of factor viii inhibitors upon immunosuppressive treatment in severe postpartum acquired hemophilia a.

    A 25-year-old woman was diagnosed with acquired hemophilia caused by factor viii (FVIII) inhibitors two months after normal delivery of her first child. She presented with severe spontaneous bleeding in the right forearm and distal part of the right leg. After venipuncture for diagnostic purposes, severe hematoma developed, affecting the whole left arm and shoulder. The diagnosis of acquired hemophilia was confirmed by the presence of FVIII inhibitors (Bethesda units=76), low activity of factor viii (5%), and prolonged activated partial thromboplastin time (APTT=89 s). The treatment with fresh frozen plasma, cryoprecipitate, red blood cells concentrate, methylprednisolone (3 mg/kg/day for 8 days, then 1 mg/kg/day), and cyclophosphamide (150 mg/day for 5 days, then 100 mg/day) was followed by the regression of hematomas and normalization of APTT and FVIII activity. The titer of FVIII inhibitors rapidly decreased and total disappearance of antibodies was achieved after 15 days. To the best of our knowledge, this is the shortest time to the disappearance of inhibitors to FVIII in postpartum acquired hemophilia ever reported. Transient reappearance of inhibitors occurred 10 months later and also promptly reacted to the same therapy. In the follow-up period of 4 years, the patient had two more pregnancies with no clinical and laboratory signs of illness recurrence. This case indicates important role of immunosuppressive therapy, which can rapidly induce a remission of this rare condition and be life-saving if introduced early in the course of illness and in doses higher than usually recommended.
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5/12. Enterococcal meningitis in an hiv positive haemophilic patient.

    A 25 year old, human immunodeficiency virus (hiv) seropositive, severe haemophilic patient was treated for suspected pneumocystis carinii infection with high dose intravenous cotrimoxazole and subsequently with prednisolone. When he improved he was discharged on oral treatment only to return two days later, extremely unwell, with headaches, fever, sweats, tachycardia and hypotension. A lumbar puncture showed modest neutrophil pleocytosis but despite empirical antibiotic treatment with intravenous benzylpenicillin and cefuroxime he continued to deteriorate. culture of cerebrospinal fluid subsequently grew enterococcus faecalis that was resistant to trimethoprim and sensitive to ampicillin, rifampicin, and vancomycin. After a change in treatment to intravenous ampicillin and rifampicin he dramatically improved. Enterococcal meningitis is rare in adults but important to recognise and treat appropriately in view of its high mortality and relative resistance to antibiotics. In our case the combination of hiv infection and previous treatment with antibiotics or steroids, or both, were probable predisposing factors.
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6/12. Hemophilia presenting as compartment syndrome in the arm following venipuncture. A case report and review of the literature.

    A three-month-old male infant with undiagnosed hemophilia presented with fever and irritability. During the diagnostic evaluation a venipuncture in the right antecubital fossa led to hemorrhage and a compartment syndrome in the brachium. Differential diagnosis included osteomyelitis and septic arthritis but a 99technetium bone scan revealed only delayed washout of radioactive material from the right brachium without increased uptake. Despite elevated pressures in the muscle compartments of the right arm, surgical decompression was delayed until a complete blood coagulation profile was obtained. After replacement of deficient blood products, the compartment syndrome resolved without surgical decompression. Defective coagulation leading to hemorrhage into the muscle compartments of the arm resulted in a significant elevation of compartmental pressure. The unusual clinical presentation of the patient, as well as a lack of a positive family history, delayed the diagnosis of hemophilia and the subsequent replacement therapy.
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7/12. paraplegia after lumbar puncture. In an infant with previously undiagnosed hemophilia a. Treatment and peri-operative considerations.

    We report a 3-month-old infant who became paraplegic from an epidural hematoma caused by a diagnostic lumbar puncture for work-up of sepsis. The differential diagnosis of the cause of paraplegia was epidural hematoma formation versus spinal abscess. hemophilia a was diagnosed when coagulation studies were discovered to be abnormal, and non-contrast CT scan revealed an epidural mass with spinal cord displacement. The coagulopathy was rapidly corrected preoperatively with an infusion of cryoprecipitate. A medially limited bilateral T8-L4 laminectomy allowed complete evacuation of the hematoma with maximum preservation of normal bone tissue, but no clinical improvement resulted. Coagulopathy should be highly suspect in an infant who becomes paraplegic after lumbar puncture. The coagulopathy may be rapidly corrected with deficient factor replacement, allowing major spinal surgery to be performed safely.
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8/12. Acquired arteriovenous fistula in a child with hemophilia.

    A case of a 2 9/12-year-old hemophiliac boy who acquired an arteriovenous fistula in the right cubital fossa is described. This case shows the possibility that such fistulas can be iatrogenically induced in hemophiliac children subjected to repeated venipunctures.
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9/12. Traumatic false aneurysm of the hand in hemophilia.

    An unusual case of traumatic false aneurysm following a puncture wound in the hand of a hemophiliac, despite factor viii replacement, demonstrates the necessity for careful evaluation of such patients when there is profuse and continued bleeding. Following surgical repair of the false aneurysm and the ulnar proper digital nerve of the thumb 17 days postinjury the patient had an uncomplicated recovery. Partial arterial laceration, the underlying pathology of this lesion, may be demonstrated by arteriography or surgical exploration.
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10/12. hemobilia after liver biopsy. Early detection in a patient with mild hemophilia a.

    hemobilia occurred following liver biopsy in a patient with mild hemophilia a, despite adequate factor viii transfusion. Before major hemorrhage occurred, the diagnosis of hemobilia was confirmed by endoscopy and retrograde cholangiography. Two aneurysms of the hepatic artery were found in the corresponding area of puncture injury. Surgical intervention was necessary for hydrops of the gallbladder with cholecystitis caused by blood clots occluding the cystic duct. The bleeding stopped spontaneously. Early endoscopy and retrograde cholangiography are beneficial in elucidating the exact cause and relationship of clinical signs and symptoms.
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