ABSTRACT
BACKGROUND: von Willebrand disease (VWD) is the most common inherited bleeding disorder with a prevalence of up to 1%. However in Korea, only 126 VWD patients were registered in Korea Hemophilia Foundation (KHF). The aim of this study was to determine the status of VWD patients in Korea. We analyzed VWD patients by age, gender, blood group, family history and bleeding history.METHODS: One hundred twenty-six VWD patients registered in the KHF by December 2016, and 74 patients diagnosed at six university hospitals were enrolled in this study. We evaluated the medical records from the KHF and the questionnaires from six university hospitals retrospectively.RESULTS: Seventeen patients misdiagnosed and ten patients duplicated were excluded. One hundred nine patients registered in the KHF and 64 patients diagnosed at six university hospitals met the criteria for VWD. The blood type O accounts for 72 (51.8%). VWF mutation was detected in 30 patients (17.3%). Median age at diagnosis was 10.5 yr. The bleeding score of adults was higher than that of children (P < 0.001). The most common bleeding symptom was epistaxis (48.5%). The distribution of VWD types was: 67% of type 1, 30.1% of type 2, and 2.9% of type 3.CONCLUSION: Even though only six hospitals responded to the survey, 64 patients not registered in the KHF were diagnosed with VWD. Our results suggest the prevalence of Korean VWD might be higher than previously reported. A nationwide registration system is warranted in order to accurately identify the national prevalence of VWD.
Subject(s)
Adult , Child , Humans , Diagnosis , Epistaxis , Hemophilia A , Hemorrhage , Hospitals, University , Korea , Medical Records , Prevalence , Retrospective Studies , von Willebrand DiseasesABSTRACT
Acute cerebellitis is a rare inflammatory disorder that occurs most frequently in children. The typical clinical course of acute cerebellitis is benign. However, in some cases of acute cerebellitis, fulminant cerebellar swelling with obliteration of the fourth ventricle causes brain stem compression and acute obstructive hydrocephalus, which can be life-threatening and require emergent neurosurgical procedures. We describe the case of a 4-year-old girl whose acute cerebellitis caused brain stem compression, acute obstructive hydrocephalus, and death. The patient was admitted to the emergency department because of a severe headache that had persisted for 5 days. Neurological examinations revealed no specific abnormality. Brain magnetic resonance imaging (MRI) demonstrated diffuse swelling and high signal intensity lesions in the cerebellar hemispheres and vermis, obliteration of the fourth ventricle, and brain stem compression on T2-weighted images in conjunction with mild hydrocephalus. Cerebrospinal fluid (CSF) analysis revealed white blood cell and red blood cell counts of 180/mm³ and 0/mm³, respectively; protein and glucose concentrations of 263.6 mg/dL and 37 mg/dL, respectively; and negative culture results. Despite aggressive treatment, the patient developed sudden cardiorespiratory arrest on day 2. Although emergency neurosurgery was performed after cardiopulmonary resuscitation, her condition progressed to brain death, and she died on day 29. This case suggests that timely and appropriate neurosurgery should be actively considered to relieve increased intracranial pressure in the early phases of acute cerebellitis.
Subject(s)
Child , Child, Preschool , Female , Humans , Brain Death , Brain Stem , Brain , Cardiopulmonary Resuscitation , Cerebrospinal Fluid , Emergencies , Emergency Service, Hospital , Erythrocyte Count , Fourth Ventricle , Glucose , Headache , Hydrocephalus , Intracranial Hypertension , Intracranial Pressure , Leukocytes , Magnetic Resonance Imaging , Neurologic Examination , Neurosurgery , Neurosurgical ProceduresABSTRACT
BACKGROUND: von Willebrand disease (VWD) is the most common inherited bleeding disorder with a prevalence of up to 1%. However in Korea, only 126 VWD patients were registered in Korea Hemophilia Foundation (KHF). The aim of this study was to determine the status of VWD patients in Korea. We analyzed VWD patients by age, gender, blood group, family history and bleeding history. METHODS: One hundred twenty-six VWD patients registered in the KHF by December 2016, and 74 patients diagnosed at six university hospitals were enrolled in this study. We evaluated the medical records from the KHF and the questionnaires from six university hospitals retrospectively. RESULTS: Seventeen patients misdiagnosed and ten patients duplicated were excluded. One hundred nine patients registered in the KHF and 64 patients diagnosed at six university hospitals met the criteria for VWD. The blood type O accounts for 72 (51.8%). VWF mutation was detected in 30 patients (17.3%). Median age at diagnosis was 10.5 yr. The bleeding score of adults was higher than that of children (P < 0.001). The most common bleeding symptom was epistaxis (48.5%). The distribution of VWD types was: 67% of type 1, 30.1% of type 2, and 2.9% of type 3. CONCLUSION: Even though only six hospitals responded to the survey, 64 patients not registered in the KHF were diagnosed with VWD. Our results suggest the prevalence of Korean VWD might be higher than previously reported. A nationwide registration system is warranted in order to accurately identify the national prevalence of VWD.