[周围神经病变作为柯凯因综合征的表现形式]。

Archivos de neurobiologia Pub Date : 1991-07-01
J Campistol Plana, A Riverola de Veciana, P Poo Argüelles, J Colomer Oferil, J Moreno Hernández
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引用次数: 0

摘要

我们报告了一个5个月大的婴儿柯凯因综合征的临床观察,其症状包括发育不全、小头畸形、周围神经病变和脑脊液蛋白水平升高。该综合征更典型的症状出现在13个月大时的计算机断层扫描显示的类早衰相、光敏性和颅内钙化。早期临床表现,与周围神经病变的关联,以及脑脊液中高水平的蛋白质是不寻常的事实,导致我们对其他脱髓鞘疾病进行鉴别诊断。
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[Peripheral neuropathy as a presenting form of Cockayne syndrome].

We report a clinical observation of an infant aged 5 months with Cockayne syndrome whose symptomatology included failure to thrive, microcephaly, peripheral neuropathy and elevated level of protein in CSF. More typical signs of this syndrome appeared lately with progeroid facies, photosensitivity and intracranial calcifications that computed tomography revealed at 13 months of age. The early onset of clinical manifestations, the association with peripheral neuropathy, and the high level of protein in CSF are unusual facts that led us to do the differential diagnosis with other demyelinating disorders.

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