Neuropediatrics 2009; 40(2): 85-88
DOI: 10.1055/s-0029-1237720
Short Communication

© Georg Thieme Verlag KG Stuttgart · New York

Charcot-Marie-Tooth (CMT) Disease 1A with Superimposed Inflammatory Polyneuropathy in Children

A. Desurkar1 , J.-P. Lin1 , K. Mills2 , S. Al-Sarraj3 , W. Jan4 , H. Jungbluth1 , 5 , E. Wraige1
  • 1Department of Paediatric Neurology, Evelina Children's Hospital, St Thomas’ Hospital, London, UK
  • 2Department of Neurophysiology, King's College Hospital, London, UK
  • 3Department of Neuropathology, King's College Hospital, London, UK
  • 4Department of Paediatric Radiology, Evelina Children's Hospital, St Thomas’ Hospital, London, UK
  • 5Clinical Neuroscience Division, King's College, London, UK
Weitere Informationen

Publikationsverlauf

received 02.12.2008

accepted 27.07.2009

Publikationsdatum:
06. Oktober 2009 (online)

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.

References

Correspondence

Dr. Archana Desurkar

Department of Paediatric Neurology

Evelina Children's Hospital

Lambeth Palace Road

London SW16 2QJ

UK

Telefon: +0044/20/7188 71 88 Ext.: 8400

Fax: +0044/20/7188 08 51

eMail: [email protected]