title: [Peripheral neuropathy as a presenting form of Cockayne syndrome].
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.
authors.affiliation: Médico adjunto del Servicio de Neuropediatría, Hospital Sant Joan de Deu, Barcelona.
authors.forename: J
authors.initials: J
authors.lastname: Campistol Plana
authors.forename: A
authors.initials: A
authors.lastname: Riverola de Veciana
authors.forename: P
authors.initials: P
authors.lastname: Poo Argüelles
authors.forename: J
authors.initials: J
authors.lastname: Colomer Oferil
authors.forename: J
authors.initials: J
authors.lastname: Moreno Hernández
mesh_terms: D001928:Brain Diseases, Metabolic / Q000209:etiology; D002114:Calcinosis / Q000209:etiology; D002556:Cerebrospinal Fluid Proteins / Q000032:analysis; D003057:Cockayne Syndrome / Q000134:cerebrospinal fluid / Q000150:complications / Q000175:diagnosis* / Q000473:pathology; D003711:Demyelinating Diseases / Q000175:diagnosis; D003937:Diagnosis, Differential; D006801:Humans; D007223:Infant; D008297:Male; D009431:Neural Conduction; D010523:Peripheral Nervous System Diseases / Q000209:etiology*
chemical_list: D002556:Cerebrospinal Fluid Proteins
vernacular_title: Neuropatía periférica como forma de presentación del síndrome de Cockayne.