European Journal of Pediatrics

, Volume 168, Issue 2, pp 237–240

Chronic inflammatory demyelinating polyneuropathy as a possible novel component of autoimmune poly-endocrine-candidiasis-ectodermal dystrophy

  • Mariella Valenzise
  • Antonella Meloni
  • Corrado Betterle
  • Bruno Giometto
  • Massimo Autunno
  • Anna Mazzeo
  • Antonio Cao
  • Filippo De Luca
Short Report

DOI: 10.1007/s00431-008-0736-8

Cite this article as:
Valenzise, M., Meloni, A., Betterle, C. et al. Eur J Pediatr (2009) 168: 237. doi:10.1007/s00431-008-0736-8

Abstract

We describe two unrelated boys with autoimmune poly-endocrine-candidiasis-ectodermal dystrophy syndrome (APECED) who, in addition to manifesting the most common symptoms (chronic mucocutaneous candidiasis, hypoparathyroidism and Addison’s disease), developed progressive muscular weakness in both the proximal and distal limbs, sensory loss and absent tendon reflexes. Electrophysiological studies disclosed a reduction of nerve conduction velocity in both patients that was consistent with the diagnosis of chronic inflammatory demyelinating polyneuropathy (CIDP).This diagnosis was supported by histological demyelination in nerve biopsy specimens with patchy CD4, CD8 and CD68-positive cell infiltration in the first patient and increased protein content in the cerebrospinal fluid in the second patient. Our cases represent the first report of an association between APECED and CIDP, in which peripheral nerve demyelination may represent a novel disease component in APECED. Our findings highlight the need to explore apparently rare manifestations in patients with APECED.

Keywords

Chronic inflammatory demyelinating polyneuropathyAutoimmune-poly-endocrine-candidiasis-ectodermal dystrophy

Abbreviations

AIRE

autoimmune regulator

APECED

autoimmune poly-endocrine-candidiasis-ectodermal dystrophy syndrome

CIDP

chronic inflammatory demyelinating polyneuropathy

MAG

myelin-associated glycoprotein

Copyright information

© Springer-Verlag 2008

Authors and Affiliations

  • Mariella Valenzise
    • 1
  • Antonella Meloni
    • 2
  • Corrado Betterle
    • 3
  • Bruno Giometto
    • 4
  • Massimo Autunno
    • 5
  • Anna Mazzeo
    • 5
  • Antonio Cao
    • 6
  • Filippo De Luca
    • 1
  1. 1.Department of PediatricsUniversity of MessinaMessinaItaly
  2. 2.Department of Biomedical Biotechnological Science, Clinica Pediatrica II, Ospedale MicrocitemicoUniversity of CagliariCagliariItaly
  3. 3.Unit of Endocrinology, Department of Medical and Surgical SciencesUniversity of PadovaPadovaItaly
  4. 4.Department of NeurologyOspedale Ca’ FoncelloTrevisoItaly
  5. 5.Department of Neurosciences, Psychiatry and AnaesthesiologyUniversity of MessinaMessinaItaly
  6. 6.Istituto di Neurogenetica e NeurofarmacologiaNational Research CouncilCagliariItaly