Document Detail


Chronic inflammatory demyelinating polyneuropathy as a possible novel component of autoimmune poly-endocrine-candidiasis-ectodermal dystrophy.
MedLine Citation:
PMID:  18461357     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
Mariella Valenzise; Antonella Meloni; Corrado Betterle; Bruno Giometto; Massimo Autunno; Anna Mazzeo; Antonio Cao; Filippo De Luca
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't     Date:  2008-05-07
Journal Detail:
Title:  European journal of pediatrics     Volume:  168     ISSN:  1432-1076     ISO Abbreviation:  Eur. J. Pediatr.     Publication Date:  2009 Feb 
Date Detail:
Created Date:  2008-12-19     Completed Date:  2009-03-11     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7603873     Medline TA:  Eur J Pediatr     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  237-40     Citation Subset:  IM    
Affiliation:
Department of Pediatrics, University of Messina, Via Consolare Valeria, 1, 98126 Messina, Italy. marielvale@hotmail.com
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MeSH Terms
Descriptor/Qualifier:
Administration, Oral
Adolescent
Alleles*
Biopsy
DNA Mutational Analysis
Electromyography
Humans
Immunization, Passive
Male
Neural Conduction / genetics
Neurologic Examination
Polyendocrinopathies, Autoimmune / genetics*,  pathology,  therapy
Polyradiculoneuropathy, Chronic Inflammatory Demyelinating / genetics*,  pathology,  therapy
Prednisone / administration & dosage
Sural Nerve / pathology
Transcription Factors / genetics*
Chemical
Reg. No./Substance:
0/APECED protein; 0/Transcription Factors; 53-03-2/Prednisone

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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