Linked Life Data

7671985

Source:http://linkedlifedata.com/resource/pubmed/id/7671985

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
1995-10-19
pubmed:abstractText
We report the clinical and neuroradiological follow-up of 2 Italian sisters, 10 and 6 years of age, affected by congenital muscular dystrophy (CMD) with divergent CNS involvement. In both, CMD was diagnosed by finding dystrophic alterations in muscle biopsy and muscular deficit at birth. The elder sister suffered also from marked intellectual deficit and epilepsy, as usually reported in children with Fukuyama CMD. In the same patient, at 2 years of age, CT scan showed severe hypodensity of cerebral white matter and severe ventricular dilatation of occipital horns. At 8 years of age, MRI also showed clearcut pachygyria mainly in the parietal and occipital lobes. MRI and CT scan at the same age showed improvement of the leukoencephalopathy and unchanged ventricular dilatation, as reported for patients with Fukuyama CMD. Unlike Japanese cases, however, she showed no progression in her muscular deficit and her muscle immunostaining of laminin M chain (merosin) was normal. The younger sister had normal mental development, never experienced epileptic fits and had always normal EEG. However, as often seen in classical CMD, her CT scan showed moderate hypomyelination of cerebral white matter and mild dilatation of lateral ventricles. MRI did not show any other brain abnormalities. Sequential CT scan at 2, 4 and 6 years of age showed improvement of the leukoencephalopathy. Her muscular deficit had a stationary clinical course. Her immunostaining of muscle merosin was moderately reduced. The finding of Fukuyama-like and classical CMD in 2 sisters indicates the possibility that different forms of CMD may be different expressions of the same genetic disease.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:issn
0014-3022
pubmed:author
pubmed:issnType
Print
pubmed:volume
35
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
230-5
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1995
pubmed:articleTitle
Divergence of central nervous system involvement in 2 Italian sisters with congenital muscular dystrophy: a clinical and neuroradiological follow-up.
pubmed:affiliation
Istituto di Clinica delle Malattie Nervose e Mentali, Università degli Studi di Padova, Italia.
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't