title: [The place of neuropathy in the early diagnosis of Cockayne syndrome: Report on two siblings].
abstract: 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 are insufficiently specific and appear late: the diagnosis may be delayed because multi-organ involvement and sensorial impairment suggests more frequent neurometabolic disorders. Neuroradiologic abnormalities are suggestive but may occur later. The finding of a demyelinating peripheral neuropathy seems to be a more useful marker to suspect this disorder in the presence of other clinical features. Further studies are required to better define the chronology of the symptoms, not only for adequate genetic counseling and eventual prenatal diagnosis, but also to assess the efficacy of future therapies.
authors.affiliation: Unité des troubles des apprentissages et du langage, service de pédo-psychiatrie, hôpital René-Dubos, 6, avenue de l'Île-de-France, 95300 Pontoise, France; Service de neurologie et réanimation pédiatriques, hôpital Raymond-Poincaré, hôpitaux universitaires Paris-Île-de-France Ouest, AP-HP, 104, boulevard Raymond-Poincaré, 92380 Garches, France. Electronic address: nathalie.blin-rochemaure@ch-pontoise.fr.
authors.forename: N
authors.initials: N
authors.lastname: Blin-Rochemaure
authors.affiliation: Service de neurologie et réanimation pédiatriques, hôpital Raymond-Poincaré, hôpitaux universitaires Paris-Île-de-France Ouest, AP-HP, 104, boulevard Raymond-Poincaré, 92380 Garches, France.
authors.forename: N
authors.initials: N
authors.lastname: Allani-Essid
authors.affiliation: Service de radiologie, hôpital Raymond-Poincaré, AP-HP, 104, boulevard Raymond-Poincaré, 92380 Garches, France; Centre de référence de maladies neuromusculaires Garches-Necker-Mondor-Hendaye (GNMH), France; U1179 UVSQ - Inserm, université de Versailles-Saint-Quentin, 78180 Montigny, France; FILNEMUS, Réseau national français de la filière neuromusculaire, France.
authors.forename: R
authors.initials: R
authors.lastname: Carlier
authors.affiliation: Inserm 1112, laboratoire de génétique médicale, faculté de médecine, 67085 Strasbourg, France.
authors.forename: V
authors.initials: V
authors.lastname: Laugel
authors.affiliation: Service de neurologie et réanimation pédiatriques, hôpital Raymond-Poincaré, hôpitaux universitaires Paris-Île-de-France Ouest, AP-HP, 104, boulevard Raymond-Poincaré, 92380 Garches, France; Centre de référence de maladies neuromusculaires Garches-Necker-Mondor-Hendaye (GNMH), France; U1179 UVSQ - Inserm, université de Versailles-Saint-Quentin, 78180 Montigny, France; FILNEMUS, Réseau national français de la filière neuromusculaire, France.
authors.forename: S
authors.initials: S
authors.lastname: Quijano-Roy
mesh_terms: D002648:Child; D002675:Child, Preschool; D003057:Cockayne Syndrome / Q000175:diagnosis* / Q000235:genetics*; D003711:Demyelinating Diseases / Q000175:diagnosis* / Q000235:genetics*; D003937:Diagnosis, Differential; D042241:Early Diagnosis; D004576:Electromyography; D005260:Female; D005500:Follow-Up Studies; D005817:Genetic Counseling; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009460:Neurologic Examination; D010523:Peripheral Nervous System Diseases / Q000175:diagnosis* / Q000235:genetics*; D010641:Phenotype; D011379:Prognosis; D035583:Rare Diseases