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

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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.

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Fig. 1

Abbreviations

AIRE:

autoimmune regulator

APECED:

autoimmune poly-endocrine-candidiasis-ectodermal dystrophy syndrome

CIDP:

chronic inflammatory demyelinating polyneuropathy

MAG:

myelin-associated glycoprotein

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Acknowledgements

This study was supported by the EU Research Project FP-6 entitled “EurAPS: Autoimmune polyendocrine syndrome type I-a rare disorder of childhood as a model for autoimmunity”, under contract number LSHM-CT 2005-005223

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Authors and Affiliations

  1. Department of Pediatrics, University of Messina, Via Consolare Valeria, 1, 98126, Messina, Italy

    Mariella Valenzise & Filippo De Luca

  2. Department of Biomedical Biotechnological Science, Clinica Pediatrica II, Ospedale Microcitemico, University of Cagliari, Cagliari, Italy

    Antonella Meloni

  3. Unit of Endocrinology, Department of Medical and Surgical Sciences, University of Padova, Padova, Italy

    Corrado Betterle

  4. Department of Neurology, Ospedale Ca’ Foncello, Azienda ULSS9, Treviso, Italy

    Bruno Giometto

  5. Department of Neurosciences, Psychiatry and Anaesthesiology, University of Messina, Messina, Italy

    Massimo Autunno & Anna Mazzeo

  6. Istituto di Neurogenetica e Neurofarmacologia, National Research Council, Cagliari, Italy

    Antonio Cao

Authors
  1. Mariella Valenzise
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  2. Antonella Meloni
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  3. Corrado Betterle
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  4. Bruno Giometto
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  5. Massimo Autunno
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  6. Anna Mazzeo
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  7. Antonio Cao
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  8. Filippo De Luca
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Corresponding author

Correspondence to Mariella Valenzise.

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Valenzise, M., Meloni, A., Betterle, C. et al. Chronic inflammatory demyelinating polyneuropathy as a possible novel component of autoimmune poly-endocrine-candidiasis-ectodermal dystrophy. Eur J Pediatr 168, 237–240 (2009). https://doi.org/10.1007/s00431-008-0736-8

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  • DOI: https://doi.org/10.1007/s00431-008-0736-8

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