A rare ataxia cause Louis-bar syndrome: case report

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.

Nadir bir ataksi nedeni Louis-bar sendromu

Ataksi telenjiektazi sendromu olarak da bilinen Louis Bar sendromu; serebellar ataksi, okülokütanöz telenjiektazi ve immün yetmezlikle karakterize otozomal resessif kalýtým gösteren bir hastalýktýr. Ýnsidansý 40.000-100.000 canlý doðumda bir olarak bildirilen bu sendrom; disfaji, dizartri, myokloni, malign tümörler, insüline dirençli hiperglisemi ve daha nadir olarak psiþik deðiþikliklerle de karþýmýza çýkabilmektedir. Düþük görülme insidansýna sahip olmasý ve farklý klinik bulgular ile ortaya çýkabilmesi nedeniyle taný konmasýnda güçlük yaþanabilen Louis Bar
sendromlu iki kardeþ olguyu; ataksi ayýrýcý tanýsýnda fizik muayenenin önemini vurgulamak amacýyla sunduk.