Biotidinase deficiency accompanied by diffuse demyelination and cerebral atrophy
Biotinidaz eksikliği yaklaşık olarak 60.000 canlı doğumda bir görülen otozomal resesif geçişli herediter bir hastalıktır. Bu hastalıkta genellikle seboreik dermatit, alopesi, ataksi, konvülsiyon, hipotoni, gelişme geriliği, işitme kaybı, kronik laktik asidoz ve immün yetmezlik görülür. Serumda enzim düzeyi ve aktivitesi ölçülerek tanı konulur. Burada herhangi bir cilt bulgusu olmaksızın serebral atrofi ile başvuran 2,5 aylık erkek biotinidaz olgusu sunulmuştur. Hastamızda olduğu gibi etiyolojisi belli olmayan dirençli kon- vülsiyonlar ile başvuran ve herhangi bir cilt bulgusu olmayan hastalarda biotinidaz eksikliği göz önünde bulundurulmalıdır. Ayrıca gelişebilecek komplikasyonların önlenmesi için erken dönemde tedavi uygulanmalıdır.
Yaygın demiyelizasyon ve serebral atrofi ile seyreden biotinidaz eksikliği
Biotinidase deficiency is an inherited disorder which has autosomal recessive pattern; it occurs in approximately 1 in 60,000 live births. Usually it manifests seborrheic dermatitis, alopecia, ataxia, convulsions, hypotonia, developmental delay, hearing loss, chronic lactic acidosis and immune deficiency. Its diagnosis is made by the measurement of serum biotinidase enzyme activity and determination of the enzyme. Herein presented that a two and half-month-old boy with biotinidase enzyme deficiency which had cerebral atrophy without any skin signs. In the patients presented with refractory convulsions with unexplainable etiology without any skin lesions, as in our patient, biotinidase enzyme deficiency should be considered and the treatment should be established in early period to prevent many complications that may develop.
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