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Article

[The place of neuropathy in the early diagnosis of Cockayne syndrome: Report on two siblings].

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie - 1 Apr 2017

Blin-Rochemaure N, Allani-Essid N, Carlier R, Laugel V, Quijano-Roy S

Abstract excerpt

Two siblings affected with Cockayne syndrome (CS) are described: this diagnosis was suggested by the finding of a demyelinating neuropathy on electromyography in both children and consistent clinical features. CS is a rare genetic disorder with severe prognosis and a highly varied phenotype, making early diagnosis difficult. Taking into account these two cases and the literature, the current diagnosis criteria...

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Source

Identifiers

PMID: 28258862
DOI: 10.1016/j.arcped.2016.12.015

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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