Rosemberg Sergio, Leite Claudia da Costa, Arita Fernando Norio, Kliemann Suzana Ely, Lacerda Maria Teresa Carvalho
Department of Pediatrics (Neuropediatrics Division), Santa Casa of São Paulo School of Medicine, Rua Dr. Cezário Motta Jr. 112, CEP 01221-900, Brazil.
Brain Dev. 2002 Jun;24(4):250-6. doi: 10.1016/s0387-7604(02)00034-7.
Four patients with leukoencephalopathy with vanishing white matter from three unrelated Brazilian families are reported. In all cases the initial symptoms occurred in the three first years of life. In three cases the onset was acute and at least in two patients the involvement of the white matter preceded the clinical symptoms. Only cerebellar and pyramidal signs were present and persisted throughout the evolution. An episodic course with worsening of the symptoms during febrile illnesses was noted in one patient. In three patients a significant deceleration of the head growth was noted. In one family, brother and sister were affected but the twin brother of the boy was free from the disease. In another family, the patient had a sister who died at 13 years of age from an identical disease not diagnosed at that time. In one family, the parents were first cousins. In all patients, serial magnetic resonance imaging and magnetic resonance spectroscopy showed the characteristic picture of the involvement of the white matter with increasing signal intensity close to that of the cerebrospinal fluid.
报告了来自三个不相关巴西家庭的4例伴脑白质消失的脑白质病患者。所有病例的初始症状均出现在生命的头三年。3例起病急性，至少2例患者的白质受累先于临床症状出现。仅存在小脑和锥体束征，并在整个病程中持续存在。1例患者出现发热性疾病期间症状恶化的发作性病程。3例患者出现明显的头围生长减速。在一个家庭中，兄妹患病，但男孩的双胞胎兄弟未患病。在另一个家庭中，患者有一个13岁死于当时未诊断出的相同疾病的姐姐。在一个家庭中，父母是近亲。所有患者的系列磁共振成像和磁共振波谱显示白质受累的特征性表现，信号强度增加，接近脑脊液的信号强度。
