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[Peripheral neuropathy as a presenting form of Cockayne syndrome].

作者信息

Campistol Plana J, Riverola de Veciana A, Poo Argüelles P, Colomer Oferil J, Moreno Hernández J

机构信息

Médico adjunto del Servicio de Neuropediatría, Hospital Sant Joan de Deu, Barcelona.

出版信息

Arch Neurobiol (Madr). 1991 Jul-Aug;54(4):141-5.

PMID:1659795
Abstract

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.

摘要

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Cockayne syndrome: Clinical features, model systems and pathways.科凯恩综合征:临床特征、模型系统与通路
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