Linked Life Data

7919970

Source:http://linkedlifedata.com/resource/pubmed/id/7919970

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
1994-11-1
pubmed:abstractText
Two siblings presented with a recurrent axonal neuropathy associated with intercurrent infection. One child had mild global developmental delay. The CSF was normal and haematological and biochemical tests failed to reveal a metabolic disorder. Nerve conduction studies in both children showed a mixed sensory and motor axonal neuropathy. Sural nerve biopsies showed severe ongoing axonal degeneration. At post mortem examination peripheral nerves showed widespread axonal loss with a marked reduction of anterior horn and posterior root ganglion cells. Mild diffuse endoneurial cell inflammation was present in the peripheral nerves and some posterior roots. We believe that these siblings died from a genetically determined axonal neuropathy with central nervous system involvement.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
0960-8966
pubmed:author
pubmed:issnType
Print
pubmed:volume
4
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
227-32
pubmed:dateRevised
2009-11-19
pubmed:meshHeading
pubmed:year
1994
pubmed:articleTitle
Infantile axonal neuropathy in two siblings.
pubmed:affiliation
Department of Paediatrics, UMDS, Guy's Hospital, London, U.K.
pubmed:publicationType
Journal Article, Case Reports