Arch Pediatr 2017 Apr 28;24(4):353-359. Epub 2017 Feb 28.
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.
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. Read More