Grünewald S, Champion M P, Leonard J V, Schaper J, Morris A A M
Children's Hospital, University Hospital Essen, Essen, Germany.
Neuropediatrics. 2004 Aug;35(4):211-6. doi: 10.1055/s-2004-821080.
The clinical history and the neuroradiological findings have been reviewed for 5 patients with biotinidase deficiency. Patients were diagnosed in the UK, where neonatal screening for this disorder is not done. The age at presentation ranged from 4 weeks to 5 months and the median interval between presentation and diagnosis was 5.5 months. The main abnormalities on cerebral imaging were leukoencephalopathy and widening of the ventricles and extra-cerebral CSF spaces. White matter abnormalities included delayed myelination but, in some patients, the increased signal was too great to be explained just by failure of myelination. Subtle subcortical changes were the only abnormality in one patient. Follow-up studies after treatment with biotin showed improved myelination; in one case, this was accompanied by normalisation of the CSF spaces but another patient showed progressive atrophy and cystic degeneration. Most of these patients have neurological sequelae. Biotinidase deficiency should be excluded in all patients with unexplained neurological problems. Neonatal screening provides the best chance of a good outcome.
对5例生物素酶缺乏症患者的临床病史和神经放射学检查结果进行了回顾。这些患者在英国被诊断出来，该国未开展针对这种疾病的新生儿筛查。发病年龄在4周龄至5月龄之间，发病与诊断之间的中位间隔时间为5.5个月。脑部影像学检查的主要异常表现为白质脑病、脑室及脑外脑脊液间隙增宽。白质异常包括髓鞘形成延迟，但在一些患者中，信号增强程度过大，无法仅用髓鞘形成失败来解释。在1例患者中，仅存在细微的皮质下改变这一异常。生物素治疗后的随访研究显示髓鞘形成有所改善；1例患者脑脊液间隙恢复正常，但另1例患者出现进行性萎缩和囊性变。这些患者中的大多数都有神经后遗症。对于所有有不明原因神经问题的患者，均应排除生物素酶缺乏症。新生儿筛查是获得良好预后的最佳机会。
