Deprez M, D'Hooghe M, Misson J P, de Leval L, Ceuterick C, Reznik M, Martin J J
Laboratory of Neuropathology, CHU University of Liège, Belgium.
Acta Neurol Scand. 1999 Mar;99(3):158-65. doi: 10.1111/j.1600-0404.1999.tb07338.x.
We describe 2 new cases of Alexander's disease, the first to be reported in Belgium. The first patient, a 4-year-old girl, presented with progressive megalencephaly, mental retardation, spastic tetraparesis, ataxia and epilepsy: post-mortem examination showed widespread myelin loss with Rosenthal fibers (RFs) accumulation throughout the neuraxis. She was the third of heterozygotic twins, the 2 others having developed normally and being alive at age 5 years. The second patient developed at age 10 years and over a decade spastic paraparesis, palatal myoclonus, nystagmus, thoracic hyperkyphosis and thoraco-lumbar scoliosis with radiological findings of bilateral anterior leukoencephalopathy. Brain stereotactic biopsy at age 16 years demonstrated numerous RFs. With these 2 cases, we review the literature on the various clinico-pathological conditions reported as Alexander's disease. We discuss the nosology of this entity and the pathogeny of RFs formation and dysmyelination. Clues to the diagnosis of this encephalopathy in the living patient are briefly described.
我们描述了2例亚历山大病的新病例，这是比利时首次报告的病例。首例患者为一名4岁女孩，表现为进行性巨头畸形、智力发育迟缓、痉挛性四肢瘫、共济失调和癫痫：尸检显示全脑广泛脱髓鞘，伴有贯穿神经轴的罗森塔尔纤维（RFs）积聚。她是一对异卵双胞胎中的老三，另外两个发育正常，5岁时还活着。第二例患者10岁起病，十多年来出现痉挛性截瘫、腭肌阵挛、眼球震颤、胸椎后凸和胸腰段脊柱侧弯，影像学表现为双侧前部白质脑病。16岁时脑立体定向活检发现大量RFs。通过这2例病例，我们回顾了关于被报告为亚历山大病的各种临床病理情况的文献。我们讨论了该疾病的分类学以及RFs形成和髓鞘形成异常的发病机制。简要描述了活体患者中该脑病的诊断线索。
