de Quadros A, Sá D S, Kowacs P A, Teive H A, Werneck L C
Departamento de Clínica Médica, Hospital de Clínicas, Universidade Federal do Paraná.
Arq Neuropsiquiatr. 2000 Sep;58(3A):720-3. doi: 10.1590/s0004-282x2000000400019.
Two cases of Lafora's disease with prominent movement disorders portraying rare initial manifestations are reported. In both patients, the first manifestations were cerebellar ataxia, dysartria and startle phenomenon. These symptoms occurred before seizures, myoclonic and progressive dementia, which are more well known as manifestations of Lafora's disease. The diagnosis was confirmed by the identification of PAS positive inclusion bodies in deep skin biopsy samples. Our patients presented an unexpected slow progression of the disease, with longer survival. Lafora's disease should be remembered among diseases causing slowly progressive ataxia associated with epileptic seizures.
报告了两例伴有突出运动障碍的拉福拉病,其呈现出罕见的初始表现。在这两名患者中,最初的表现均为小脑性共济失调、构音障碍和惊吓现象。这些症状在癫痫发作、肌阵挛和进行性痴呆之前出现,而癫痫发作、肌阵挛和进行性痴呆是拉福拉病更常见的表现。通过在深层皮肤活检样本中鉴定出PAS阳性包涵体,确诊了该病。我们的患者疾病进展意外缓慢,生存期更长。在引起与癫痫发作相关的缓慢进行性共济失调的疾病中,应考虑到拉福拉病。