肾上腺脑白质营养不良23例临床与实验室分析

目的深化对肾上腺脑白质营养不良(ALD)的认识。方法分析1987~2005年确诊为ALD的23例患者的临床和实验室资料。结果23例ALD患者均为男性;起病年龄0~18.5岁;均有中枢神经系统和内分泌系统受累的表现。神经系统变化包括行为、认知异常和神经系统的阳性体征;内分泌系统表现包括肾上腺皮质功能的进行性减退和生长发育迟缓。其中10例患者有阳性家族史;22例有颅脑CT和MRI的特征性表现,以枕叶、顶叶、侧脑室、颞叶为主;14/15例患者有原发性肾上腺皮质功能减低。结论诊断ALD须结合家族史、临床特点、特异生化检查、神经影像学检查。推荐对ALD疑似病例首先进行皮质醇、ACTH实验及颅脑MRI检查。

Clinical and laboratory analysis on 23 cases with adrenoleukodystrophy

Objective To intensify the recognition of adrenoleukodystrophy (ALD). Methods The clinical and laboratory data of 23 patients, including 15 patients with the childhood cerebral form and 7 with the adolescent form were analyzed. The diagnoses were confirmed from 1987 to 2005. Results All the patients were male with the ages at diagnosis ranged from 0 to 18.5 years old. The dysfunction of central nervous system and endocrine system were the main clinical manifestations, consisting of behavior changes, cognitive impairment and positive signs in physical examination. While the features of endocrine system consisted of progressive degeneration of adrenocortical function and delayed growth development. Almost all of the patients had the bilateral demyelination in parieto-occipital-temporal region, the typical findings on CT or MRI scans. Conclusions The diagnosis could be confirmed with representative clinical pictures,family history and wide range of diagnostic procedures including neuroradiologic findings, hormonal and biochemical tests. The tests for adrenocortical function and brain MRI were strongly recommended for the diagnostic confirmation.