Brault J L, Gielselmann V, Carpentier A, Lefèvre M, Turpin J C, Baumann N
Hôpital Fontenoy, Chartres, France.
Rev Neurol (Paris). 1997 Apr;153(3):193-6.
We report here a familial observation of metachromatic leukodystrophy (MLD) in 2 sisters. The very beginning, with only psychiatric manifestations at adolescence, could be precisely established. The evolution towards a dementia, and the evidence of a pyramidal syndrome oriented later towards a clearly organic disease. A very wide bilateral and symmetrical demyelination was shown by Magnetic Resonance imaging. The deficiency in arylsulfatase A activity oriented towards MLD which was confirmed by metachromatic deposits in the nerve biopsy. Molecular biology evidenced in the two, compound heterozygoty with both the classical mutation of the infantile form with loss of a splicing site at the level of intron 2, and the ileu > Ser 179 mutation frequent in adult forms.
我们在此报告2名姐妹患异染性脑白质营养不良（MLD）的家族观察病例。疾病起始于青春期，最初仅有精神症状，这一点可以明确确定。随后病情发展为痴呆，并有锥体束综合征的表现，后期明确为器质性疾病。磁共振成像显示双侧广泛且对称的脱髓鞘病变。神经活检中异染性沉积物证实芳基硫酸酯酶A活性缺乏，提示为MLD。分子生物学检测显示两人均为复合杂合子，存在婴儿型经典突变，即内含子2水平的剪接位点缺失，以及成人型常见的ileu > Ser 179突变。
