Dubowitz Neuromuscular Centre, UCL Institute of Child Health & Great Ormond Street Hospital for Children, London, UK.
Neuromuscul Disord. 2013 Jul;23(7):549-56. doi: 10.1016/j.nmd.2013.04.002. Epub 2013 May 18.
Three patients with CHKB deficient muscular dystrophy are described which broadens the previously described phenotype. Blood smear in one patient showed Jordans anomaly (vacuolated leukocytes). Gastrointestinal features occurred in two patients and there appeared to be acute deterioration with infection/general anaesthesia. Brain imaging showed no structural changes but brain magnetic resonance proton spectroscopy (MRS) demonstrated significant reduction in choline:N-acetyl aspartate and choline:creatine ratios in keeping with a general decrease in the amount of choline and phosphocholine-based substrate. Muscle pathology showed either myopathic or dystrophic features, uneven oxidative enzyme staining, COX deficient fibres and peripherally located large mitochondria. CHKB activity was reduced in all three patients and complex 1 activity was significantly reduced in one patient.
描述了 3 例 CHKB 缺乏性肌营养不良患者，这拓宽了先前描述的表型。一名患者的血涂片显示 Jordans 异常（空泡化白细胞）。两名患者出现胃肠道特征，似乎在感染/全身麻醉时出现急性恶化。脑部影像学检查无结构改变，但脑磁共振质子波谱（MRS）显示胆碱：N-乙酰天冬氨酸和胆碱：肌酸比值显著降低，与胆碱和磷酸胆碱基底物总量普遍减少一致。肌肉病理学表现为肌病或营养不良特征、氧化酶染色不均匀、COX 缺陷纤维和周边位置大线粒体。所有 3 例患者的 CHKB 活性降低，1 例患者的复合物 1 活性显著降低。
