斯内登综合征、芳基硫酸酯酶A假性缺乏与脑白质损害

Sneddon syndrome, arylsulfatase A pseudodeficiency and impairment of cerebral white matter.

作者信息

Parmeggiani A, Posar A, De Giorgi L B, Sangiorgi S, Mochi M, Monari L, Patrizi A, Rossi P G

机构信息

Department of Child Neurology and Psychiatry, Neurological Institute, University of Bologna, via Ugo Foscolo 7, 40123, Bologna, Italy.

出版信息

Brain Dev. 2000 Sep;22(6):390-3. doi: 10.1016/s0387-7604(00)00157-1.

DOI:10.1016/s0387-7604(00)00157-1

PMID:11042423

Abstract

We describe a 11 year-old-boy with Sneddon syndrome, confirmed by skin biopsy, and MR evidence of diffuse cerebral hyperintensity of white matter; he also suffered from pre-perinatal hypoxic-ischemic distress. Arylsulfatase A activity was found reduced because of arylsulfatase A pseudodeficiency. We suggest that the association of pre-perinatal distress, Sneddon syndrome and arylsulfatase A pseudodeficiency is responsible for the diffuse impairment of cerebral white matter, never reported in Sneddon syndrome and similar to described cases of delayed posthypoxic demyelination and arylsulfatase A pseudodeficiency.

摘要

我们描述了一名11岁男孩，经皮肤活检确诊为斯内登综合征，磁共振成像显示脑白质弥漫性高信号；他还曾患有围产期缺氧缺血性窘迫。由于芳基硫酸酯酶A假性缺乏，发现其芳基硫酸酯酶A活性降低。我们认为，围产期窘迫、斯内登综合征和芳基硫酸酯酶A假性缺乏之间的关联是导致脑白质弥漫性损伤的原因，这种情况在斯内登综合征中从未有过报道，类似于所描述的迟发性缺氧后脱髓鞘和芳基硫酸酯酶A假性缺乏病例。