Anselm I A, Alkuraya F S, Salomons G S, Jakobs C, Fulton A B, Mazumdar M, Rivkin M, Frye R, Poussaint T Young, Marsden D
Department of Neurology, Children's Hospital Boston, Harvard Medical School, Massachusetts 02115, USA.
J Inherit Metab Dis. 2006 Feb;29(1):214-9. doi: 10.1007/s10545-006-0123-4.
We report two unrelated boys with the X-linked creatine transporter defect (CRTR) and clinical features more severe than those previously described with this disorder. These two boys presented at ages 12 and 30 months with severe mental retardation, absent speech development, hypotonia, myopathy and extra-pyramidal movement disorder. One boy has seizures and some dysmorphic features; he also has evidence of an oxidative phosphorylation defect. They both had classical absence of creatine peak on brain magnetic resonance spectroscopy (MRS). In one, however, this critical finding was overlooked in the initial interpretation and was discovered upon subsequent review of the MRS. Molecular studies showed large genomic deletions of a large part of the 3' end of the complete open reading frame of the SLC6A8 gene. This report emphasizes the importance of MRS in evaluating neurological symptoms, broadens the phenotypic spectrum of CRTR and adds knowledge about the pathogenesis of creatine depletion in the brain and retina.
我们报告了两名患有X连锁肌酸转运体缺陷（CRTR）的非亲缘关系男孩，其临床特征比该疾病先前描述的更为严重。这两名男孩分别在12个月和30个月时出现严重智力发育迟缓、语言发育缺失、肌张力减退、肌病和锥体外系运动障碍。其中一名男孩有癫痫发作和一些畸形特征；他还存在氧化磷酸化缺陷的证据。他们两人在脑磁共振波谱（MRS）上均典型地缺乏肌酸峰。然而，在其中一人中，这一关键发现在最初解读时被忽视，在随后复查MRS时才被发现。分子研究显示SLC6A8基因完整开放阅读框3'端的大部分区域存在大片段基因组缺失。本报告强调了MRS在评估神经症状中的重要性，拓宽了CRTR的表型谱，并增加了关于脑和视网膜中肌酸耗竭发病机制的知识。
