Linked Life Data

9436803

Source:http://linkedlifedata.com/resource/pubmed/id/9436803

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
1998-2-19
pubmed:abstractText
Hereditary sensory and autonomic neuropathy type IV, or congenital insensitivity to pain with anhidrosis (CIPA), is a rare clinical disorder with only 32 cases reported in the literature. There has been no consistent pathophysiologic defect of the sensory nerve detected by light microscopic examination, but a frequent finding of decreased small myelinated fibers and a uniform finding of decreased unmyelinated fibers by ultrastructural analysis has been reported. Muscle biopsy in a 2-year-old boy with congenital insensitivity to pain with anhidrosis indicated lipid droplet accumulation and reduced cytochrome C oxidase histochemically on light microscopy. Electron microscopic study showed almost absent small unmyelinated nerve axons within the muscle, increased microfilaments, and decreased microtubules in axons, some abnormally enlarged mitochondria, and normal-appearing motor endplates. Biochemical analysis of muscle mitochondrial enzyme function revealed cytochrome c oxidase function to be reduced to 35% of normal, with normal function of the other mitochondrial enzymes.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Nov
pubmed:issn
0887-8994
pubmed:author
pubmed:issnType
Print
pubmed:volume
17
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
356-61
pubmed:dateRevised
2006-5-23
pubmed:meshHeading
pubmed:year
1997
pubmed:articleTitle
Congenital insensitivity to pain and anhidrosis with mitochondrial and axonal abnormalities.
pubmed:affiliation
Department of Neurology, Harbor-UCLA Medical Center, Torrance, California 90509, USA.
pubmed:publicationType
Journal Article, Case Reports