Electroretinography and diagnosis of the Laurence-Moon-Bardet-Biedl syndrome in childhood.
Electroretinography and diagnosis of the Laurence-Moon-Bardet-Biedl syndrome in childhood.
复制标题
儿童期 Laurence-Moon-Bardet-Biedl 综合征的视网膜电图检查和诊断。
DOI：
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发表时间：
1977
期刊：
影响因子：
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通讯作者：
S. Bernasconi,
中科院分区：
文献类型：
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作者：
L. Prosperi;M. Cordella;S. Bernasconi,
报告2例LMBB综合征患儿。第一个孩子六岁，患有肥胖症和轻度智力障碍;另一个两岁，患有六指畸形和肥胖症。在这两个孩子中，LMBB综合征的可疑诊断被证实为视网膜筋膜变性的脑电图证据，尽管眼底是不典型的。第三个孩子，第二个案件的弟弟，提出了一个不典型的色素沉着的视网膜和视网膜电图的变化，一个tapeto视网膜变性。由于视带视网膜变性，这是最常见的综合征的主要体征，并不总是认识到检眼镜在儿童早期，视网膜电图在早期诊断的临床价值强调。
The cases of two children affected from LMBB syndrome are reported. The first child was six years old, suffering from obesity and mild mental retardation; the other was two years old, suffering from hexadactyly and obesity. In both children the suspected diagnosis of LMBB syndrome was verified by the electroetinographic evidence of a tapetoretinal degeneration although the fundi were atypical. A third child, the younger brother of the second case, presented an atypical pigmentation of the retina and the electroretinographic changes of a tapeto-retinal degeneration. Since tapeto-retinal degeneration, which is the most common of the main signs of the syndrome, is not always recognized by ophthalmoscopy in early childhood, the clinical value of electroretinography in making an early diagnosis is emphasized.