Linked Life Data

2369047

Source:http://linkedlifedata.com/resource/pubmed/id/2369047

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
1990-8-16
pubmed:abstractText
We report a new case of non-familial dysautonomia. The patient was a boy with no known Jewish ancestry in whom psychomotor retardation in early infancy failed to lead to specialized evaluation. Regressive episodes of ataxia developed at the age of three and infrequent generalized seizures occurred between four and seven. Diagnosis was first considered at the age of seven after neuroparalytic keratitis developed and rapidly became bilateral. This case has remained highly unusual throughout the course since none of the commonly reported complications (swallowing disorders, aspiration pneumonia, and dysautonomic "attacks") has occurred. No life-threatening manifestations have developed. Peripheral nerve biopsy specimens showed that myelinated fibers, especially of large diameters, were abnormally scarce, and that the histogram failed to exhibit the normal bimodal aspect. Ultrastructural studies also disclosed a marked reduction in the caliber of unmyelinated fibers, whose axons were flattened or occasionally missing. No evidence of regeneration was found. The atypical clinical features in our patient are discussed.
pubmed:language
fre
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
0066-2097
pubmed:author
pubmed:issnType
Print
pubmed:volume
37
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
306-9
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1990
pubmed:articleTitle
[Dysautonomia. A clinical study of a case, ultrastructural data].
pubmed:affiliation
Service de Pédiatrie-Génétique médicale B, Hôpital des Enfants, Bordeaux.
pubmed:publicationType
Journal Article, English Abstract, Case Reports