Linked Life Data

6478680

Source:http://linkedlifedata.com/resource/pubmed/id/6478680

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
1984-11-21
pubmed:abstractText
A two year and ten-month-old girl with cerebello-brain stem leukodystrophy is presented. She was hypotonic with spasticity and showed delayed motor development until she was twelve months old, when regression of motor activities began. Progressive hypotonia, dysphagia and fatal respiratory abnormalities developed. Auditory brain stem response was absent. Pathological examination revealed primary demyelination with a predilection for the cerebellum, brain stem and spinal cord, in association with changes of the cerebellar cortex, pontine nuclei, inferior olivary nuclei and part of the basal ganglia. Clinical, pathological and biochemical studies revealed that this disease is different from metachromatic leukodystrophy, Krabbe's globoid cell leukodystrophy and adrenoleukodystrophy. The clinical entity of cerebello-brain stem orthochromatic leukodystrophy is discussed.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:issn
0722-5091
pubmed:author
pubmed:issnType
Print
pubmed:volume
3
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
178-84
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:articleTitle
Cerebello-brain stem orthochromatic leukodystrophy with floppiness and bulbar paralysis.
pubmed:publicationType
Journal Article, Case Reports