Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
1995-6-12
pubmed:abstractText
We report the case of a 4-year-old child presenting with a diagnosis of giant axonal neuropathy. This rare condition was diagnosed when the child was 15 months old and was confirmed using a gingival sample removed during a dental examination. Structural and ultrastructural analyses demonstrated the presence of numerous unmyelinated fibres with distended axons and the accumulation of intermediate filaments in Schwann cells, in fibroblasts and in endothelial cells. Cytological examination of connective tissue revealed the presence of mitochondria-like particles. Scanning electron microscopic examination of hair revealed the presence of a longitudinal groove along the shaft. These characteristic features of giant axonal neuropathy demonstrate that gingival tissue can be used as an aid in its diagnosis.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
D
pubmed:status
MEDLINE
pubmed:month
Feb
pubmed:issn
0904-2512
pubmed:author
pubmed:issnType
Print
pubmed:volume
24
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
89-92
pubmed:dateRevised
2009-11-19
pubmed:meshHeading
pubmed:year
1995
pubmed:articleTitle
Gingival biopsy in the diagnosis of giant axonal neuropathy.
pubmed:affiliation
Université de Rennes I-UFR Odontologie, Service de Soins Dentaires et Péridentaires, France.
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't