与大量多聚葡萄糖体沉积相关的儿童期起病的脊髓小脑综合征。
Childhood-onset spinocerebellar syndrome associated with massive polyglucosan body deposition.
作者信息
Felice K J, Grunnet M L, Rao K R, Wolfson L I
机构信息
Department of Neurology, University of Connecticut School of Medicine, Farmington, USA.
出版信息
Acta Neurol Scand. 1997 Jan;95(1):60-4. doi: 10.1111/j.1600-0404.1997.tb00070.x.
INTRODUCTION
Polyglucosan body disease (PBD) is a progressive neurological disorder beginning in adult life and associated pathologically with widespread accumulation of polyglucosan bodies (PB) in neuronal and astrocytic processes. We report the unique clinicopathological findings in an early onset spinocerebellar syndrome associated with massive PB deposition.
PATIENT & METHODS: A 14-month-old male developed a slowly progressive neurological disorder characterized by distally predominant weakness and sensory loss, urinary bladder incontinence, and cerebellar signs. He died at age 62 years from pneumonia. We report the clinical and autopsy findings.
RESULTS
The autopsy findings were remarkable for diffuse cortical and cerebellar atrophy, diffuse neuronal loss and gliosis, and massive accumulations of PB within neuronal and astrocytic processes.
CONCLUSION
PBD may begin in childhood.
引言
多聚葡萄糖体病（PBD）是一种始于成年期的进行性神经疾病，病理上与多聚葡萄糖体（PB）在神经元和星形胶质细胞突起中的广泛积累有关。我们报告了一例与大量PB沉积相关的早发性脊髓小脑综合征的独特临床病理发现。
患者与方法
一名14个月大的男性出现了一种缓慢进展的神经疾病，其特征为以远端为主的肌无力和感觉丧失、膀胱失禁以及小脑体征。他于62岁时死于肺炎。我们报告了临床和尸检结果。
结果
尸检结果显示弥漫性皮质和小脑萎缩、弥漫性神经元丢失和胶质增生，以及神经元和星形胶质细胞突起内大量PB积累。
结论
PBD可能始于儿童期。
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