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作者首次报道1例青少年异染性脑白质营养不良(MLD)患者骨髓移植后病情长期稳定的病例。 患者为男性,9岁时在学校表现逐渐变差,注意力易分散,自控力差,近记忆减退,语言和结构能力方面无明显异常。颅神经、运动、感觉正常,无乏力、病理征、共济失调及肌张力障碍,生理反射正常。头颅CT示脑室轻度扩大,脑室周围白质轻度萎缩,白细胞和皮肤成纤维细胞芳香基硫酸酯酶A(ASA)水平分别为0.85nmol/mg/h,和55nmol/mg/h,属亚正常。次年出现左下肢轻度共济失调,行为表现更差,IQ轻度下降,确
The authors first reported a case of adolescent heterogenous leukodystrophy (MLD) patients with long-term stability after bone marrow transplantation cases. Patients were male and showed a gradual deterioration in school performance at 9 years of age, distractibility, poor self-control, near-memory loss, and no significant abnormalities in language and structure. Cranial nerves, exercise, feeling normal, no fatigue, pathological signs, ataxia and dystonia, normal physiological reflex. Head CT showed mild ventricular enlargement, mild left ventricular white matter atrophy, white blood cells and skin fibroblasts aryl sulfatase A (ASA) levels were 0.85nmol / mg / h, and 55nmol / mg / h, is a subnormal . The following year mild left lower extremity ataxia, worse performance, IQ decreased slightly, indeed