Unit of Neurology and Neurometabolic Diseases, Department of Neurological, Neurosurgical and Behavioural Sciences, University of Siena, Viale Bracci 2, 53100 Siena, Italy.
Neurol Sci. 2013 Jan;34(1):79-83. doi: 10.1007/s10072-012-0956-6. Epub 2012 Jan 25.
Late-onset Krabbe disease may have variable misleading clinical manifestations and be a puzzling problem for physicians. We report clinical and peripheral nerve studies of three patients with adult-onset Krabbe disease. Two cases had a predominantly spastic paraparesis; in one case, the symptoms mimicked a cerebrovascular disorder. Predominantly, demyelinating neuropathy was observed in one case and axonal neuropathy in two cases. In all cases, no typical intracytoplasmic inclusions were found. These observations suggest that peripheral neuropathy in adult-onset Krabbe disease has variable clinical and pathological characteristics, different from those described in the classic form.
晚发性克拉伯病的临床表现可能具有多变性和误导性,对医生来说是一个棘手的问题。我们报告了三例成人发病型克拉伯病患者的临床和周围神经研究结果。两例主要表现为痉挛性截瘫,一例病例的症状类似脑血管病。一例主要表现为脱髓鞘性神经病,两例为轴索性神经病。在所有病例中,均未发现典型的细胞质内包涵体。这些观察结果表明,成人发病型克拉伯病的周围神经病具有多变的临床和病理特征,与经典型描述的不同。