PUPILLARY AND ELECTRORETINOGRAPHIC ABNORMALITIES IN A FAMILY WITH NEURONAL INTRANUCLEAR HYALINE INCLUSION DISEASE
PUPILLARY AND ELECTRORETINOGRAPHIC ABNORMALITIES IN A FAMILY WITH NEURONAL INTRANUCLEAR HYALINE INCLUSION DISEASE
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DOI：
10.1001/archopht.1991.01080030075043
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发表时间：
1991-03-01
影响因子：
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通讯作者：
BARNETT, JL
中科院分区：
文献类型：
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作者：
ARRINDELL, EL;TROBE, JD;BARNETT, JL
在一个患有神经元核内透明蛋白包涵性疾病（一种涉及中枢和周围神经系统的特发性退行性疾病）的家族中，发现了四名成员的瞳孔功能异常和严重的视网膜电图下降。症状局限于胃肠道系统，主要包括腹痛、便秘和严重的体重减轻。在这个家族的两代人中，光固定瞳孔的发现导致了第一次通过直肠活检进行死前诊断。胃肠运动和瞳孔反应异常是自主神经功能障碍的唯一客观证据；视网膜电图异常是中枢神经系统功能障碍的唯一证据。
Abnormal pupillary function and a severely depressed electroretinogram were found in four members of a family with neuronal intranuclear hyaline inclusion disease, an idiopathic degenerative disorder that involves the central and peripheral nervous systems. Symptoms were limited to the gastrointestinal system and consisted principally of abdominal pain, constipation, and severe weight loss. The discovery of light-fixed pupils in the propositus led to the first antemortem diagnosis by rectal biopsy in two generations of this family. Abnormalities of gastrointestinal motility and pupillary reactions constituted the only objective evidence of autonomic dysfunction; the abnormal electroretinogram was the only evidence of central nervous system dysfunction.