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Turkish Journal of Physical Medicine and Rehabilitation
2011 , Vol 57 , Num 2
Mitochondrial Myopathy Rehabilitation in a Case of Pearson Syndrome
2 S.B. Ankara Eğitim ve Araştırma Hastanesi Çocuk Hematoloji Bölümü, Ankara, Türkiye
3 Ankara Eğitim Araştırma Hastanesi Fizik Tedavi ve Rehabilitasyon Kliniği, Ankara, Türkiye
4 Hacettepe Üniversitesi Tıp Fakültesi, Fiziksel Tıp ve Rehabilitasyon Anabilim Dalı, Ankara DOI : 10.4274/tftr.14880
Pearson syndrome is an often fatal and rarely seen mitochondrial disorder characterized by vacuolization of bone marrow precursors, refractory sideroblastic anemia and metabolic acidosis. More than 70 cases have been published, but the effect of exercise on Pearson syndrome has not been reported yet. Male/female ratio is 0.7. Inheritance is maternal because mitochondria are found in the ovum and tail of the sperm before fertilization. The syndrome may also be seen among relatives. In this case report, we presented a 22-year-old female patient with Pearson syndrome and summarized the rehabilitation approaches in the treatment of mitochondrial myopathy.
Keywords : Pearson syndrome, mitochondrial myopathy, rehabilitatio