Biotinidase deficiency is characterized by severe neurological manifestations as hypotonia, lethargy, ataxia, hearing loss, seizures and developmental retardation in its classical form. In 2016 Mar 9, Sanem Yilmaz and others publish an article in << Metabolic Brain Disease >> which title is “A treatable cause of myelopathy and vision loss mimicking neuromyelitis optica spectrum disorder: late-onset biotinidase deficiency”，reported late-onset biotinidase deficiency can cause myelopathy and vision loss. Patients with poor response to steroid therapy. At the third month of biotin replacement therapy, the muscle strength of the case returned to normal. At last they appeal that the late-onset form of the biotinidase deficiency should be kept in mind in all patients with myelopathy with or without vision loss, particularly in those with inadequate response to steroid therapy.
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