ABSTRACT
A 16-year-old boy with severe hemophilia B and minimal bleeding manifestations in his early childhood presented with gastrointestinal bleeding at 11 years of age. Following administration of prothrombin complex concentrate, he developed peripheral venous thrombosis and cerebral sinovenous thrombosis, posing a management dilemma. His cerebral sinovenous thrombosis resolved spontaneously, proving watchful waiting to be a useful strategy. He developed spontaneous intracranial bleed at 14 years of age for which he was treated with factor IX concentrate and commenced on prophylaxis. We discuss the factors contributing to genotype-phenotype dissonance in severe hemophilia and considerations before commencing prophylaxis in such cases.
Subject(s)
Blood Coagulation Factors/therapeutic use , Factor IX/therapeutic use , Hemophilia B/therapy , Hemorrhage/therapy , Thrombosis/etiology , Adolescent , Blood Coagulation Factors/adverse effects , Humans , MaleABSTRACT
INTRODUCTION: There is an increasing trend of physical child abuse cases reported in Singapore. Children presenting to the Emergency Department with injuries require a high index of suspicion for clinicians to distinguish those that are abusive in nature. MATERIALS AND METHODS: A retrospective study of children with diagnosis of NAI presenting to KK Women's and Children's Hospital (KKH) from June 2011 to May 2016 was conducted. RESULTS: There were 1917 cases reported from 1730 subjects, ofâ which: 8.8% of subjects had repeat visits; 55.2% of cases were male; and mean age was 7.69 years. Racial demographics were: Chinese 45.5%, Malay 33.4%, Indian 15.4% and Others 5.9%. The most frequent injuries sustained were head and neck (50.8%), limbs (32.2%), and chest (5.7%). Of the type of injuries, 55% had contusions, 21% had cane marks, 16% had lacerations, 4.4% had burn marks and 1% sustained fractures. Males were more likely to be caned (P <0.001); 54.9% of cases were admitted and 38.9% were discharged. Cases that presented without a parent (P <0.001), were known to Child Protective Service (P <0.001), or had a history of âparental substance abuse (P = 0.038), mental illness in caregiver (P = 0.021), or domestic violence (P <0.001) were more likely to require admission. CONCLUSION: Analysing these factors provide a better understanding ofâ the presentation of âNAI cases, including 'red flags' and vulnerable groups who should have better protection.