Ali Bülent BAZ, Serdar AKALIN, Hasan ARIK, Ali ERGÜN

Morquio sendromunda tek taraflı kronik patella çıkığında proksimal dizilim düzeltici cerrahi tedavi: Olgu sunumu

Mukopolisakkaridoz IVA (MPS IVA: Morquio sendromu) N-asetilgalaktozamin-6-sülfat sülfa-taz enzim eksikliğinden kaynaklanan bir lizozomal depo hastalığıdır. MPS IVA hastalan doğumda sağlıklı görünürler. Bu sendroma özgün radyolojik değişiklikler klinik belirti ve bulgulardan önce gözlenirler. Hastaların çoğunda, ikinci veya üçüncü on yılda, ilerlemiş eklem dejenerasyonu ortaya çıkar. Ara metabolitlerin artmasına bağlı olarak eklem hiperlaksitesi belirgindir. Bu çalışmada, proksimal yumuşak doku dizilim cerrahisi yapılarak tedavi edilen kronik patella çıkık-lı, kalıtsal cüceliği olan bir hasta sunulmuştur.

Proximal realignment surgery for unilateral chronic patella dislocation in Morquio syndrome: A case report

Mucopolysaccharidosis IVA (MPS IVA: Morquio A syndrome) is a lysosomal storage disorder caused by a deficiency of N-acetylgalactosamine-6-sulfate sulfatase. Patients with MPS IVA appear healthy at birth. Morquio-specific radiographic changes can be observed prior to clinical signs and symptoms. Patients are usually affected by a severe joint degeneration from the 2nd or 3rd decade. Hyperlaxity of the joints is prominent due to the excess of intermediate metabolites. We report a patient with inherited dwarfism, in which a proximal soft tissue realignment procedure was performed to treat chronic patellar dislocation.

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