Faruk İNCECİK, Özlem M. HERGÜNER, Gülen MERT, Özden HOROZ, Şakir ALTUNBAŞAK

Duchenne Müsküler Distrofi ve Gilbert"s Sendromu Birlikteliği: Bir Olgu Sunumu

Gilbert"s sendromu konjuge olmayan hiperbilirubinemi ile karekterize bir hastalıktır. 5 yaşında erkek çocuğu hafif sarılık ile hastanemize getirildi. Hastanın karaciğer enzimleri ve kreatin fosfokinaz yüksekliği ile beraber ısrarcı unkonjuge hiperbilirubinemisi vardı. Normal hemoglobin ve retikülosit değerleri ile hemoliz dışlandı ve Gilbert"s sendromu tanısı konuldu. Kreatin kinaz değeri 15600 U/l idi ve distrofin geninde delesyon mevcuttu. Sonuç olarak hastaya Gilbert"s sendromu ve Duchenne Müsküler Distrofi tanısı kondu. Bilgilerimize göre, Duchenne Müsküler Distrofi ve Gilbert"s sendromu birlikteliği literatürdeki ilk olgudur.

Anahtar Kelimeler:

Gilbert"s sendromu, Duchenne Müsküler Distrofi, çocuk

Coexisting Duchenne Muscular Dystrophy and Gilbert"s Syndrome: A Case Report

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.

Keywords:

Gilbert"s syndrome, Duchenne muscular dystrophy, child,

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Yazışma Adresi / Address for Correspondence: Dr. Faruk İncecik Çukurova University Medical Faculty Department of Pediatric Neurology 01330 Balcalı-ADANA e-mail: fincecik@yahoo.com geliş tarihi/received :28.02.2013 kabul tarihi/accepted:18.03.2013