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Haydarpasa Numune Med J. 2015; 55(2): 127-131 | |||
BARTH SYNDROME: Nadir Bir İnfantil KardiyomiyopatiNurdan Erol1, Derya Büyükkayhan21Istanbul Medeniyet University Goztepe Education and Research Hospital, Pediatric Clinics, Istanbul, Turkey.2Istanbul Medeniyet University Goztepe Education and Research Hospital, Neonatology Clinic, Istanbul, Turkey. Barth sendromu; Xq28 bölgesinde yer alan Taffazzin genindeki mutasyona bağlı olarak gelişen X bağlı resesif geçiş gösteren nadir sendromdur. Sendromun klinik bulguları; kardiyomiyopati, proksimal kas miyopatisi, beslenme bozuklukları, gelişme geriliği, siklik nötropeni ve enfeksiyonlara eğilimdir. BARTH SYNDROME: A rare infantile cardiomyopathyNurdan Erol1, Derya Büyükkayhan21Istanbul Medeniyet University Goztepe Education and Research Hospital, Pediatric Clinics, Istanbul, Turkey.2Istanbul Medeniyet University Goztepe Education and Research Hospital, Neonatology Clinic, Istanbul, Turkey. Barth Syndrome, a rarely encountered recessive X-linked disease, mutates the Taffazzin gene located at Xq28 locus. Clinical findings of the syndrome include cardiomyopathy, proximal muscle myopathy, feeding difficulties, growth retardation, cyclic neutropenia, and suseptibility to infection. A case, diagnosed as Barth Syndrome, was presented in the study. The patient, a male, suffered from vomiting and feeding problems on the third day of life and succumbed to seve- re infection and neutropenia in the newborn period. He was diagnosed with cardiomyopathy including dilatation, hypertrophy, and non-compaction of the left ventricle charac- terized by a decreased systolic function. Nurdan Erol, Derya Büyükkayhan. BARTH SYNDROME: A rare infantile cardiomyopathy. Haydarpasa Numune Med J. 2015; 55(2): 127-131 Sorumlu Yazar: Nurdan Erol, Türkiye |
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