Department of Neurology, State Key Laboratory of Complex Severe and Rare Diseases, Dongcheng District, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences/Peking Union Medical College, Beijing, 100730, China.
Department of Endocrinology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences/Peking Union Medical College, Beijing, 100730, China.
Neurol Sci. 2022 May;43(5):3255-3263. doi: 10.1007/s10072-021-05859-y. Epub 2022 Jan 8.
The objective of this study is to describe the typical and atypical clinical and neuroimaging features of ALD in Chinese patients, which will help early diagnosis and intervention to improve prognosis of ALD.
Forty-one patients in the Leukoencephalopathy Clinic of Neurology Department, Peking Union Medical College Hospital were enrolled. Detailed clinical manifestations and MRI features were analyzed. The relationship between phenotype and genotype as well as biochemical analysis was observed.
The patients were classified according to phenotype and onset age, including 14 childhood cerebral ALD (CCALD), 8 adolescent cerebral ALD (adoCALD), 3 adult cerebral ALD (ACALD), 14 adrenomyeloneuropathy (AMN), and 2 ALD in women. AMN was the main presentation in adults. Visual impairment was usual onset symptom in CCALD and cognitive decline and psychiatric symptoms were found in adoCALD and ACALD. Typical MRI feature of CALD was symmetrical peri-ventricular "butterfly wings" like lesions in frontal and/or occipital lobe with peripheral DWI hyperintensities and Gd enhancement. Corpus callosum and internal capsule were always involved. Unilateral lesions were also possible. Cerebral AMN presented with centrum semiovale diffuse involvement. Spinocerebellar variant was a special subtype of AMN with obvious cerebellar and brainstem lesions. No relationships between phenotype and genotype as well as biochemical VLCFAs analysis were found.
We emphasize that corpus callosum and internal capsule are always involved in ALD. A unilateral lesion is also possible. Neuroimaging of cerebral AMN is different from typical CALD with more centrum semiovale involvement. We support spinocerebellar variant was a rare subtype of AMN.
本研究旨在描述中国 ALD 患者的典型和非典型临床及神经影像学特征，有助于早期诊断和干预，改善 ALD 的预后。
本研究纳入北京协和医院神经科脑白质病（Leukoencephalopathy）门诊的 41 例患者，分析其详细的临床表现和 MRI 特征，观察表型与基因型以及生化分析之间的关系。
根据表型和发病年龄进行分类，包括 14 例儿童脑型肾上腺脑白质营养不良（CCALD）、8 例青少年脑型肾上腺脑白质营养不良（adoCALD）、3 例成人脑型肾上腺脑白质营养不良（ACALD）、14 例肾上腺脑白质营养不良（adrenomyeloneuropathy，AMN）和 2 例女性 ALD。成人以 AMN 为主要表现，CCALD 以视力障碍为首发症状，adoCALD 和 ACALD 以认知功能下降和精神症状为首发症状。CALD 的典型 MRI 特征为额、顶叶对称性侧脑室周围“蝶翼状”病变，周围 DWI 高信号，钆增强。胼胝体和内囊常受累，也可单侧受累。脑型 AMN 表现为半卵圆中心弥漫性受累。脊髓小脑型变异是 AMN 的一种特殊亚型，以明显的小脑和脑干病变为特征。未发现表型与基因型以及生化 VLCFAs 分析之间存在相关性。
我们强调胼胝体和内囊总是受累。也可能出现单侧病变。脑型 AMN 的神经影像学与典型 CALD 不同，半卵圆中心受累更多。我们支持脊髓小脑型变异是 AMN 的一种罕见亚型。
