Linked Life Data

2721045

Source:http://linkedlifedata.com/resource/pubmed/id/2721045

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
1989-7-3
pubmed:abstractText
The Galloway syndrome is a rare autosomal recessive disease consisting of congenital microencephaly associated with congenital nephrotic syndrome, and in some cases with hiatus hernia [Galloway and Mowatt, 1968]. The case presented is that of a microencephalic infant with the nephrotic syndrome who died at 11 3/4 months after a course characterized by convulsions, developmental delay, hypotonia and hyperreflexia. Brain weight was 270 g. The frontal, parietal, and rostral temporal cortex was pachygyric. Microscopically there was lack of cortical stratification, immature cortical neurons, improper orientation of cortical neurons (seen in the Golgi stained sections), and glioneuronal ectopias in the leptomeninges. There was hypomyelination in the brain stem and spinal cord, and no myelin in the hemispheres. There was also complete absence of the internal granular layer of the cerebellum. The dentate gyrus within the hippocampal formation was absent and the inferior olivary nuclei were hypoplastic. The mechanism of neuronal migration abnormalities and the significance of associated nephrosis is discussed.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:issn
0722-5091
pubmed:author
pubmed:issnType
Print
pubmed:volume
8
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
85-91
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:articleTitle
Brain morphology in the Galloway syndrome.
pubmed:affiliation
State University of New York Health Science Center, Brooklyn 11203.
pubmed:publicationType
Journal Article, Case Reports