title: Coexistence of two chronic neuropathies in a young child: Charcot-Marie-Tooth disease type 1A and chronic inflammatory demyelinating polyneuropathy.
abstract: We report an 18-month-old Charcot-Marie-Tooth type 1A (CMT1A) patient who developed a rapid-onset neuropathy, with proximal and distal weakness, and non-uniform nerve conduction studies. The neuropathy responded well to immunomodulation, confirming the coexistence of an inherited and an inflammatory neuropathy. Unexpected clinical and/or electrophysiological manifestations in CMT1A patients should alert clinicians to concomitant inflammatory neuropathy. In addition, this association raises reflections about disease mechanism in CMT1A.
authors.affiliation: Department of Neurosciences and Behavior Sciences, School of Medicine of Ribeirão Preto, University of São Paulo, SP 14049-900, Brazil. wmjunior@fmrp.usp.br
authors.forename: Wilson
authors.initials: W
authors.lastname: Marques
authors.forename: Carolina A R
authors.initials: CA
authors.lastname: Funayama
authors.forename: Juliana B
authors.initials: JB
authors.lastname: Secchin
authors.forename: Charles M
authors.initials: CM
authors.lastname: Lourenço
authors.forename: Silmara P
authors.initials: SP
authors.lastname: Gouvêa
authors.forename: Vanessa D
authors.initials: VD
authors.lastname: Marques
authors.forename: Patricia G
authors.initials: PG
authors.lastname: Bastos
authors.forename: Amilton A
authors.initials: AA
authors.lastname: Barreira
mesh_terms: D000200:Action Potentials; D002607:Charcot-Marie-Tooth Disease / Q000150:complications* / Q000503:physiopathology / Q000628:therapy; D002675:Child, Preschool; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics; D002908:Chronic Disease; D004185:Disability Evaluation; D004334:Drug Administration Schedule; D005260:Female; D020440:Gene Duplication; D006801:Humans; D016756:Immunoglobulins, Intravenous / Q000008:administration & dosage; D056747:Immunomodulation; D018482:Muscle, Skeletal / Q000503:physiopathology; D009431:Neural Conduction; D020277:Polyradiculoneuropathy, Chronic Inflammatory Demyelinating / Q000150:complications* / Q000503:physiopathology / Q000628:therapy; D011984:Sensory Receptor Cells; D016896:Treatment Outcome
chemical_list: D016756:Immunoglobulins, Intravenous