Uğur IŞIK, Yasemin AKGÜN, Selçuk PEKER, Memet ÖZEK

Pantotenat Kinaz ile İlgili Nörodejenerasyon PKAN ‘a Bağlı Distonide Derin Beyin Stimülasyonu

Pantotenat kinaz ile ilgili nörodejenerasyon PKAN çocukluk çağında başlayan ve hızla ilerleyen, nadir görülen, otozomal resesif bir hastalıktır. Etkili bir medikal tedavisi bulunmayıp, distoni için talamotomi ve pallidotomi gibi sterotaktik cerrahi yöntemler uygulanmaktadır. Globus pallidusa GP derin beyin stimülasyonu DBS uygulanması dirençli distonide son yıllarda uygulanan alternatif bir yöntemdir. Burada PKAN’a sekonder distonisi olan ve ikisinin derin beyin stimülasyonuna çok iyi yanıt verdiği toplam üç hasta sunulmaktadır

Deep Brain Stimulation In Dystonia Secondary To Pantothenate Kinase-Associated Neurodegeneration Pkan

Pantothenate kinase-associated neurodegeneration PKAN is a rare autosomal recessive disorder with childhood onset and rapid progression. There is no effective medical therapy for this disorder. Stereotactic surgery consisting of thalomotomy and pallidotomy has been performed for medically refractory severe dystonia. Recently, deep brain stimulation DBS of globus pallidus GP has emerged as an alternative treatment in intractable dystonia. Three patients with PKAN-related dystonia, two of which demonstrated good response to bilateral globus pallidus internus GPi DBS are reported here

Keywords:

Deep brain stimulation, dystonia, PKAN,

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