Peiffer J, Pfeiffer R A
J Neurol. 1977 Jul 20;215(4):241-51. doi: 10.1007/BF00312495.
In an otherwise healthy family three male infants fell ill with microcephaly, hypotonus of the muscles, non-specific hyperkineses, seizures, and rapid mental deterioration. In addition to microdysplasia in the cerebral cortex the main neuropathological findings were the separation of the dentate nucleus into many islets, an atypical band of the inferior olives, and deficiency of the pontocerebellar fibers in the basal part of the pons. The hypoplasia of the areas involved can be distinguished from the degenerative process in the dégénérescence systematisé optico-cochleo-dentelé (Nyssen-van Bogaert).
在一个其他方面均健康的家庭中，三名男婴患上了小头畸形、肌肉张力减退、非特异性多动、癫痫发作以及快速的智力衰退。除了大脑皮质微小发育异常外，主要的神经病理学发现包括齿状核分离成许多小岛、下橄榄核的非典型带以及脑桥基部脑桥小脑纤维缺乏。受累区域的发育不全可与系统性视神经-耳蜗-齿状核变性（尼斯森-范博加特）中的退行性过程相区分。
