Biotidinase Deficiency Accompanied by Diffuse Demyelination and Cerebral Atrophy
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Mesut Okur 1 * , Mehmet Selçuk Bektaş 2, Hayrettin Temel 2, Hüseyin Çaksen 2, Mehmet Açıkgöz 2, Ertan Sal 2
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1 Duzce University School of Medicine, Department of Pediatrics, Duzce, Turkey2 Yuzuncu Yil University School of Medicine, Van, Turkey* Corresponding Author

Abstract

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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This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Article Type: Original Article

EUR J GEN MED, Volume 9, Issue 3, July 2012, 197-200

https://doi.org/10.29333/ejgm/82461

Publication date: 10 Jul 2012

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