CMT 1A : with superimposed inflammatory polyneuropathy in children.

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Neuropediatrics. 2009 Apr;40(2):85-8. Epub 2009 Oct 6.

Charcot-Marie-Tooth (CMT) disease 1A with superimposed inflammatory

polyneuropathy in children.

Desurkar A, Lin JP, Mills K, Al-Sarraj S, Jan W, Jungbluth H, Wraige E.

Department of Paediatric Neurology, Evelina Children's Hospital, St '

Hospital, London, UK.

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.