Matsuo S, Takeuchi Y, Hayashi S, Kinugasa A, Sawada T
Department of Pediatrics, Children's Research Hospital, Kyoto, Japan.
Pediatr Neurol. 1994 May;10(3):237-40. doi: 10.1016/0887-8994(94)90030-2.
A patient with unusual Hutchinson-Gilford syndrome (progeria) is reported. This 7-year-old boy had all the characteristics of progeria, except for coxa valga and the "horse-riding" stance. A previous cerebral infarction was detected in the right putamen on cranial magnetic resonance imaging. During treadmill exercise test electrocardiography, ST depression suggested the existence of arteriosclerotic lesions. Skin fibroblast culture exhibited 76% DNA-repair capacity compared to normal. He has not manifested endocrinologic abnormalities. From these findings it is concluded that this patient has an incomplete case of Hutchinson-Gilford syndrome and that a correlation may exist between the clinical features and the degree of DNA-repair capacity.
报道了一名患有罕见的早老症（哈钦森-吉尔福德综合征）的患者。这名7岁男孩具有早老症的所有特征，但不包括髋外翻和“骑马”姿势。头颅磁共振成像显示右侧壳核曾有脑梗死。在跑步机运动试验心电图检查中，ST段压低提示存在动脉硬化病变。皮肤成纤维细胞培养显示，与正常情况相比，其DNA修复能力为76%。他未表现出内分泌异常。根据这些发现得出结论，该患者为不完全型哈钦森-吉尔福德综合征病例，且临床特征与DNA修复能力程度之间可能存在关联。
