Holmes G L, Logan W J
Am J Dis Child. 1980 Mar;134(3):262-6. doi: 10.1001/archpedi.1980.02130150020006.
We describe six patients from five families, who have a syndrome that, to our knowledge, has not been previously reported. The syndrome is characterized by growth failure, ophthalmoplegia, optic atrophy, choreoathetosis, areflexia, hypotonia, dysmorphic facies, and severe mental and motor retardation. Some of the children also had microcephaly and seizures. The clinical course is remarkably uniform and slowly progressive. The abnormalities first noted are delayed psychomotor development and poor weight gain, and the others all develop within the first three years of life. The syndrome seems to be hereditary. Extensive laboratory investigation has not yielded an etiology. Until pathologic material is available, the disorder remains a syndrome and the diagnosis is established by the unique combination of neurological abnormalities.
我们描述了来自五个家庭的六名患者，他们患有一种据我们所知此前未被报道过的综合征。该综合征的特征为生长发育迟缓、眼肌麻痹、视神经萎缩、舞蹈手足徐动症、反射消失、肌张力减退、面容畸形以及严重的智力和运动发育迟缓。部分患儿还患有小头畸形和癫痫。临床病程非常一致且呈缓慢进展。最初发现的异常是精神运动发育迟缓以及体重增加缓慢，其他异常均在生命的头三年内出现。该综合征似乎具有遗传性。广泛的实验室检查尚未明确病因。在获得病理材料之前，这种疾病仍是一种综合征，其诊断通过独特的神经学异常组合来确立。
