ABSTRACT
Background: Overwhelming strongyloidiasis defined by multi-organ dissemination causes severe morbidity and high mortality.Objective: To report a case of disseminated strongyloidiasis presenting with unusual gastrointestinal manifestations in an immunocompromised host.Methods: A Thai girl with myasthenia gravis treated by chronic administration of corticosteroids presented with disseminated strongyloidiasis. Pulmonary and gastrointestinal symptoms were the clinical manifestations of hyperinfection or disseminated strongyloidiasis.Results: Strongyloid larvae were found in her sputum, stool, and peritoneal fluid. They were present in all layers of the intestinal wall. She did not respond to oral antihelminthic drugs (albendazole). Subcutaneous ivermectin was administered. She succumbed to unresponsive cardiac arrest that was unresponsive to standard resuscitation protocols due to severe septicemia. Pulmonary and gastrointestinal symptoms were the clinical manifestations of hyperinfection or disseminated strongyloidiasis.Conclusion: Serial stool examination should be performed prior to the onset and during immunosuppressive treatment.
ABSTRACT
Background: Thrombocytopenia is a frequent and challenging clinical disorder in patients with portal hypertension. It can increase the risk of bleeding associated with invasive procedures. Standard treatment for thrombocytopenia usually consists of platelet transfusions, which may cause transfusion-related complications including viral or bacterial infection, allo-immunization and febrile non-hemolytic reactions. Uncertainty still exists as to the platelet level at which transfusion is indicated in conjunction with invasive procedures such as endoscopy.Objective: To determine the predictive value of platelet level for post elective endoscopy bleeding in children with portal hypertension and thrombocytopenia.Patients and methods: Children with portal hypertension and thrombocytopenia (platelet count \< 100,000 per μL) were enrolled. Those who had active gastrointestinal (GI) bleeding at the time of admission were excluded. All patients underwent elective upper GI endoscopy for esophagogastric varices surveillance and tested for complete blood count.Results: There were 41 children (male:female = 20:21) with portal hypertension enrolled in this study. Age ranged from 2-16 years (mean±SD = 8.42±4.32 years). The etiology of portal hypertension was biliary atresia in 19 and extra-hepatic portal vein obstruction in 22. Thirty of 41 experienced previous upper GI bleeding. Endoscopic finding was 32 esophageal varices (EVs), two EVs plus gastric varices, and seven without varices. Twenty-one patients underwent endoscopy without therapeutic procedure and 20 went through endoscopic variceal ligation. Two patients developed GI bleeding post endoscopy. Platelet count of children with and without post endoscopy bleeding was not significantly different (68,500±40,305 vs. 73,025±24,030/μL, respectively; p=0.8). By applying receiver operating characteristic (ROC) curves, a platelet count cut-off value of 41,500/μL was obtained, which gave positive and negative predictive values of 12.5% and 96.9%, respectively. The accuracy of this cut-off value as evaluated by applying ROC curves was 80.5%.Conclusion: Patients with platelet count of more than 40,000/μL were almost certainly safe to undergo elective endoscopy without prophylactic platelet transfusions and hence minimize the cost and complications of transfusion.
ABSTRACT
Background: Crigler-Najjar syndrome (CN) clinically manifests as intense unconjugated hyperbilirubinemia without evidence of hemolysis. At present, over 90 genetic variations such as mutations, insertions, or deletions have been described in the five exons of the UDP-glucuronosyltransferase (UGT1A1) gene responsible for defect of bilirubin conjugation.Objective: To report a case of a female CN type I child who presented with unconjugated hyperbilirubinemia, normal liver function tests, and normal ultrasonographic images of the liver.Results: Peak total bilirubin in this patient was 27.6 mg/dL. She developed kernicterus despite prolonged daily home phototherapy. Exons 1-5 of the UGT1A1 gene were amplified by polymerase chain reaction (PCR) and the UGT1A1 gene was screened for mutations by direct DNA sequencing. Molecular genetic analysis showed that this patient was homozygous for a nonsense mutation at nucleotide number 715 (715C→T) in exon 1 resulting in the replacement of glutamine (CAG, amino acid 239) by a stop codon (TAG).Conclusion: Detection of this genetic defect is essential for gene therapy and can be used as a prenatal screening test to identify the affected offspring.