OLIVOPONTOCEREBELLAR ATROPHY OF NEONATAL ONSET AND DISIALOTRANSFERRIN DEVELOPMENT DEFICIENCY SYNDROME
OLIVOPONTOCEREBELLAR ATROPHY OF NEONATAL ONSET AND DISIALOTRANSFERRIN DEVELOPMENT DEFICIENCY SYNDROME
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DOI：
10.1136/adc.66.9.1027
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发表时间：
1991-09-01
影响因子：
5.2
通讯作者：
WINCHESTER, B
中科院分区：
文献类型：
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作者：
HORSLEN, SP;CLAYTON, PT;WINCHESTER, B
两兄弟出现新生儿橄榄体脑桥小脑萎缩。临床特征（发育不良、张力减退、肝病、积液和视觉注意力不集中）与已报告的4例病例相似，尸检发现橄榄体脑桥小脑萎缩、肝脂肪变性和纤维化以及肾脏微囊性变化也相似。注意到这与二唾液酸转铁蛋白发育缺陷综合征之间的临床相似性。在后一综合征中发现的特征性血清转铁蛋白异常也发现在这里报告的两例中。我们认为，这两种综合征是由相同的，或相关的，糖蛋白代谢缺陷。
Two brothers presented with olivopontocerebellar atrophy of neonatal onset. The clinical features (failure to thrive, hypotonia, liver disease, effusions, and visual inattention) were similar to those of the four cases already reported, as were the necropsy findings of olivopontocerebellar atrophy, hepatic steatosis and fibrosis, and microcystic renal changes. The clinical similarities between this and the disialotransferrin developmental deficiency syndrome were noted. The characteristic abnormality of serum transferrin found in the latter syndrome was also found in the two cases reported here.We suggest that both syndromes are caused by the same, or related, defects in glycoprotein metabolism.