Author/Authors :
İncecik, Faruk Çukurova University - Medical Faculty - Department of Pediatric Neurology, Turkey , Hergüner, M. Özlem Çukurova University - Medical Faculty - Department of Pediatric Neurology, Turkey , Mert, Gülen Çukurova University - Medical Faculty - Department of Pediatric Neurology, Turkey , Horoz, Özden Çukurova University - Medical Faculty - Department of Pediatric Intensive Care Unit, Turkey , Altunbaşak, Şakir Çukurova University - Medical Faculty - Department of Pediatric Neurology, Turkey
Abstract :
Gilbert’s syndrome is characterized by unconjugated hyperbilirubinemia. A 5-year-old boy presented to our hospital with mild hyperbilirubinemia. The patient had persistent unconjugated hyperbilirubinemia with high liver enzymes and creatine phosphokinase. Haemolysis was excluded by normal haemoglobin, and reticulocyte count and finally he was diagnosed to have Gilbert’s syndrome. His creatine kinase concentration was 15600 U/l, and he had a deletion in the dystrophin gene. Finally, the patient was diagnosed both Gilbert’s syndrome and Duchenne muscular dystrophy. To our knowledge, this is the first report of the concomitance of Duchenne muscular dystrophy and Gilbert’s syndrome in the literature.