Zelnik N, Dobyns W B, Forem S L, Kolodny E H
Department of Neurology, New York University School of Medicine, New York, USA.
Neuroradiology. 1996 Oct;38(7):684-7. doi: 10.1007/s002340050334.
We report three patients with severe pontocerebellar atrophy (PCA) associated with a variable degree of cerebral atrophy. The clinical features consisted of progressive microcephaly, central hypotonia, visual impairment, abnormal eye movements and delayed psychomotor development. These are similar but not identical to the features of pontocerebellar hypoplasia type 2 described by Barth. The picture also differs from the classical form of autosomal dominant olivopontocerebellar atrophy. While in two patients the disease seemed to be genetic with highly suspicious autosomal recessive inheritance, the etiology in the third patient was probably nongenetic. We suggest that PCA is a morphologic entity with distinct radiologic features but variable clinical, pathophysiologic and etiologic backgrounds.
我们报告了3例伴有不同程度脑萎缩的严重脑桥小脑萎缩（PCA）患者。临床特征包括进行性小头畸形、中枢性肌张力减退、视力障碍、异常眼球运动和精神运动发育迟缓。这些特征与Barth描述的2型脑桥小脑发育不全相似但并不完全相同。该病症表现也不同于常染色体显性遗传性橄榄体脑桥小脑萎缩的经典形式。虽然其中2例患者的疾病似乎具有高度可疑的常染色体隐性遗传特征，但第3例患者的病因可能与遗传无关。我们认为PCA是一种具有独特影像学特征，但临床、病理生理和病因背景各异的形态学实体。
