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          VOLUME 45 / ISSUE 3

The Journal is Indexed in

6 - A rare ataxia cause Louis-bar syndrome: case report

İhsan Kafadar, Betül Aydın Kılıç

Louis-Bar syndrome, also known as Ataksi telangiectasia, characterized by cerebellar ataxia, oculocutaneous telangiectasia and immune deficiency. It is inherited autosomal recessively. The incidence of this syndrome was reported as 40,000 to 100,000 live births. It has been associated with dysphagia, dysarthria, myoclonic jerks, malignant tumors, insulin resistant hyperglycemia, and more rarely alterations in psychic disorders. Diagnosis of this syndrome is difficult due to low incidence and different clinical findings. We wanted to emphasize the importance of physical examination in differential diagnosis of ataxia by presenting two brothers diagnosed as louis bar syndrome.

Keywords: Louis-Bar syndrome, ataxia, telangiectasia

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