title: Charcot-Marie-Tooth (CMT) disease 1A with superimposed inflammatory polyneuropathy in children.
abstract: Charcot-Marie-Tooth (CMT) disease is genetically heterogeneous and subdivided into demyelinating (CMT 1) and axonal (CMT 2) types based on neurophysiology findings. CMT1A, the commonest form associated with duplication of the PMP22 segment on chromosome 17p, often arises in childhood but is generally a slowly progressive disease. We report 2 children presenting with clinical features of an acute inflammatory demyelinating polyneuropathy (AIDP) who were subsequently diagnosed with underlying CMT1A. Both children had neurophysiology and histopathology features consistent with CMT1. Immunoglobulin treatment was initiated considering the evidence of superimposed inflammation and appeared to modify disease progression. Our findings indicate that CMT1A predisposes to a superimposed inflammatory neuropathy. Recognition of this association is difficult, particularly in children without clear family history, but of great importance as immunomodulatory treatment may improve outcome. In addition, we postulate that an underlying genetic polyneuropathy should be suspected if the recovery from AIDP is slower than expected, or incomplete.
authors.affiliation: Department of Paediatric Neurology, Evelina Children's Hospital, St Thomas' Hospital, London, UK. archana.desurkar@gstt.nhs.uk
authors.forename: A
authors.initials: A
authors.lastname: Desurkar
authors.forename: J-P
authors.initials: JP
authors.lastname: Lin
authors.forename: K
authors.initials: K
authors.lastname: Mills
authors.forename: S
authors.initials: S
authors.lastname: Al-Sarraj
authors.forename: W
authors.initials: W
authors.lastname: Jan
authors.forename: H
authors.initials: H
authors.lastname: Jungbluth
authors.forename: E
authors.initials: E
authors.lastname: Wraige
mesh_terms: D002531:Cerebellum / Q000473:pathology; D002607:Charcot-Marie-Tooth Disease / Q000150:complications* / Q000235:genetics / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D018450:Disease Progression; D005260:Female; D020275:Guillain-Barre Syndrome / Q000150:complications* / Q000235:genetics / Q000473:pathology; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods; D009185:Myelin Proteins / Q000235:genetics; D013497:Sural Nerve / Q000473:pathology
chemical_list: D009185:Myelin Proteins; C073687:PMP22 protein, human