脑 MRI 和 5 例突尼斯 MLD 患者的生物学诊断。

Brain MRI and biological diagnosis in five Tunisians MLD patients.

机构信息

Laboratory of Biochemistry of CHU Farhat Hached, Sousse, Tunisia.

出版信息

Diagn Pathol. 2012 Jan 28;7:11. doi: 10.1186/1746-1596-7-11.

DOI:10.1186/1746-1596-7-11

PMID:22284439

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3298776/

Abstract

UNLABELLED

Metachromatic leukodystrophy (MLD) is a recessive autosomal disease which is characterized by an accumulation of sulfatides in the central and peripheral nervous system. It is due to the enzyme deficiency of the sulfatide sulfatase i.e. arylsulfatase A (ASA). we studied 5/200 cases of MLD and clearly distinguished three clinical forms. One of them presented the juvenile form; two presented the late infantile form; and two other presented the adult form. The Magnetic Resonance Imaging (MRI) of these patients showed a diffuse, bilateral and symmetrical demyelination. The biochemical diagnosis of MLD patients evidencing the low activity of ASA and sulfatide accumulation.

PATIENTS AND METHODS

We studied 5/200 MLD patients addressed to us for behavioral abnormalities and progressive mental deterioration. All of them were diagnosed at first by brain MRI evidencing a bilateral demyelination, then the measurement of ASA activity using P-nitrocathecol sulfate as substrate, finally the sulfatiduria was performed using thin-layer chromatography using alpha-naphtol reagent.

RESULTS

In this study, from 200 patients presenting behavioral abnormalities and a progressive mental deterioration, we reported just 2 patients were diagnosed as late-infantile form of MLD. Only1 case presented as the juvenile form; and 2 patients with the adult-type of MLD. The brain magnetic resonance imaging (MRI) of all patients showed characteristic lesions of MLD with extensive demyelination. Biochemical investigations of these patients detected a low level of ASA activity at 0°C and 37°C; the excess of sulfatide in sulfatiduria.

CONCLUSION

MRI is required to orient the diagnosis of MLD patients; the latter must be confirmed by the biochemical investigations which is based on the measurement of ASA activity and the excess of sulfatide showed in the sulfatiduria.

VIRTUAL SLIDES

The virtual slide(s) for this article can be found here:http://www.diagnosticpathology.diagnomx.eu/vs/1791578262610232.

摘要

未加标签

黏脂贮积症（MLD）是一种常染色体隐性遗传病，其特征是中枢和周围神经系统中硫酸脂的积累。它是由于硫酸脂硫酸酯酶即芳基硫酸酯酶 A（ASA）的酶缺乏所致。我们研究了 200 例 MLD 中的 5 例，明确区分了三种临床形式。其中一种表现为少年型；两种表现为晚婴型；另外两种表现为成年型。这些患者的磁共振成像（MRI）显示弥漫性、双侧和对称性脱髓鞘。MLD 患者的生化诊断表现为 ASA 活性低和硫酸脂积累。

患者和方法

我们研究了 5 例因行为异常和进行性精神恶化而向我们就诊的 MLD 患者。所有患者最初均通过 MRI 诊断为双侧脱髓鞘，然后使用 P-硝基儿茶酚硫酸盐作为底物测量 ASA 活性，最后使用α-萘酚试剂进行薄层色谱法检测硫酸脂尿。

结果

在这项研究中，从 200 例出现行为异常和进行性精神恶化的患者中，我们仅报告了 2 例被诊断为晚婴型 MLD。只有 1 例为少年型；2 例为成年型 MLD。所有患者的脑磁共振成像（MRI）均显示 MLD 的特征性病变，广泛脱髓鞘。对这些患者的生化研究发现，ASA 活性在 0°C 和 37°C 时水平较低；硫酸脂尿中硫酸脂过量。