van Domburg P H, Willemsen M A, Rotteveel J J, de Jong J G, Thijssen H O, Heerschap A, Cruysberg J R, Wanders R J, Gabreëls F J, Steijlen P M
Department of Neurology, Laurentius Hospital, Roermond, The Netherlands.
Neurology. 1999 Apr 22;52(7):1345-52. doi: 10.1212/wnl.52.7.1345.
To determine the spectrum of clinical and MRI/1H MRS features of patients with fatty aldehyde dehydrogenase (FALDH) deficiency.
The Sjogren-Larsson syndrome (SLS) was originally defined as a clinical triad consisting of ichthyosis, spastic di- or tetralegia, and mental retardation, with autosomal recessive inheritance. By now, both the deficiency of the enzyme FALDH, and the genetic mutations on chromosome 17 responsible for this deficiency, have been identified. SLS, defined by fibroblast FALDH deficiency, seems to be a much broader syndrome.
The clinical findings of 11 FALDH-deficient patients of different ages and one patient with the characteristic SLS-like ichthyosis, but without FALDH deficiency, were evaluated in relation to their cerebral MRI, and to 1H MRS in six patients.
The severity of neurologic symptoms showed considerable variation. Fundoscopic perifoveal glistening dots and the characteristic SLS-like ichthyosis were present in all patients. Serial MRI findings showed evidence of retarded myelination and a variable degree of dysmyelination. 1H MRS showed an accumulation of free lipids in the periventricular white matter, even before the stage of visible dysmyelination.
The neurologic consequences of FALDH deficiency show considerable variation. The characteristic pattern of ichthyosis and retinal degeneration are seen consistently, yet they are not pathognomonic. MRI and 1H MRS findings suggest an accumulation of long-chain fatty alcohol intermediates, resulting in retarded myelination and dysmyelination.
确定脂肪醛脱氢酶（FALDH）缺乏症患者的临床及MRI/1H MRS特征谱。
舍格伦-拉松综合征（SLS）最初被定义为一种临床三联征，包括鱼鳞病、痉挛性双瘫或四肢瘫以及智力迟钝，呈常染色体隐性遗传。目前，已鉴定出FALDH酶缺乏以及17号染色体上导致该缺乏的基因突变。由成纤维细胞FALDH缺乏定义的SLS似乎是一种更为广泛的综合征。
对11例不同年龄的FALDH缺乏患者以及1例具有特征性SLS样鱼鳞病但无FALDH缺乏的患者的临床发现，与他们的脑部MRI以及6例患者的1H MRS进行相关性评估。
神经症状的严重程度表现出相当大的差异。所有患者均出现眼底黄斑周围闪光点和特征性SLS样鱼鳞病。系列MRI结果显示有髓鞘形成延迟及不同程度的脱髓鞘证据。1H MRS显示在脑室周围白质中存在游离脂质蓄积，甚至在可见脱髓鞘阶段之前就已出现。
FALDH缺乏的神经学后果表现出相当大的差异。鱼鳞病和视网膜变性的特征性模式始终可见，但并非特异性的。MRI和1H MRS结果提示长链脂肪醇中间体蓄积，导致髓鞘形成延迟和脱髓鞘。
