Regular Papers

Acta Neuropathologica

, Volume 86, Issue 6, pp 630-635

Chronic inflammatory demyelinating polyneuropathy or hereditary motor and sensory neuropathy?

Diagnostic value of morphological criteria
  • A. A. W. M. Gabreëls-FestenAffiliated withInstitute of Neurology, University Hospital Nijmegen
  • , F. J. M. GabreëlsAffiliated withInstitute of Neurology, University Hospital Nijmegen
  • , J. E. HoogendijkAffiliated withDepartment of Neurology, Academic Medical Center
  • , P. A. BolhuisAffiliated withDepartment of Neurology, Academic Medical Center
  • , P. J. H. JongenAffiliated withInstitute of Neurology, University Hospital Nijmegen
  • , H. M. VingerhoetsAffiliated withInstitute of Neurology, University Hospital Nijmegen

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Abstract

The pathological changes generally considered to distinguish chronic inflammatory demyelinating polyneuropathy (CIDP) from hereditary motor and sensory neuropathy (HMSN) are: mononuclear cell infiltrates, prominent endoneurial oedema, and marked fascicle-to-fascicle variability. We evaluated the diagnostic significance of these pathological features which are suggestive of CIDP. Nerve biopsies from 42 dominant HMSN type I cases with a normal disease course were investigated for the occurrence of inflammatory features. A small cluster of mononuclear cells was found in 12% of the cases and marked endoneurial oedema in 21%. Variability in pathology between the fascicles was not observed. The histogram configuration yielded additional information for differential diagnosis. Subsequently, we reviewed the clinical, electrophysiological and morphological features of 18 sporadic cases of chronic progressive demyelinating motor and sensory neuropathy with mainly classic onion bulbs in their nerve biopsies and a disease onset in the first decade. In all these patients DNA investigation for the 17p11.2 duplication was performed. According to the results of the DNA investigation, autosomal dominant HMSN type Ia was diagnosed in eight patients, although in six slight ‘CIDP-positive’ features were present. A diagnosis was definite or most probable CIDP in eight patients. In two patients no definite diagnosis could be made. Testing for the presence of the 17p11.2 duplication is, therefore, helpful in distinguishing between CIDP and HMSN type I. The diagnosis of CIDP requires careful evaluation of the clinical, electrophysiological and morphological data to avoid false-positive diagnoses of inflammatory disorders.

Key words

Chronic inflammatory demyelinating polyneuropathy Hereditary motor and sensory neuropathy type I Demyelinating neuropathy Mononuclear cell infiltrates Myelinated fibre-size histogram