Department of Paediatric Neurology, Great Ormond Street Hospital for Children, NHS Trust, London, UK.
Eur J Paediatr Neurol. 2010 Nov;14(6):535-8. doi: 10.1016/j.ejpn.2010.01.001. Epub 2010 Feb 12.
Biotinidase deficiency is due to a defect in recycling of biotin and is a treatable autosomal recessive inherited disorder. We describe two cases with unusual presenting symptoms and rarely described MRI findings. We propose that the diagnosis of biotinidase deficiency should be considered when there are symmetrical MRI changes in the medial thalamus, dorsal brainstem, medulla and spinal cord as in our two cases. As long as there isn't newborn screening for biotinidase deficiency in the UK; increased awareness of this disorder and recognition of biotinidase deficiency as a cause of bilateral symmetrical MRI patterns similar to our patients, would facilitate early diagnosis and prevent many of the devastating neurological sequelae associated with missing the condition.
生物素酶缺乏症是由于生物素的再循环缺陷引起的，是一种可治疗的常染色体隐性遗传性疾病。我们描述了两例具有不寻常表现症状和很少见的 MRI 表现的病例。我们提出，当在中脑、脑桥背侧、延髓和脊髓存在双侧对称的 MRI 改变时，应考虑生物素酶缺乏症的诊断，就像我们的两例病例一样。由于英国没有新生儿生物素酶缺乏症的筛查；因此，提高对这种疾病的认识，并认识到生物素酶缺乏症是导致类似于我们患者的双侧对称 MRI 模式的原因之一，将有助于早期诊断，并防止许多与漏诊相关的毁灭性神经后遗症。
