Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0264733 (ventricular dilatation)
 2,163 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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.
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PMID:Divergence of central nervous system involvement in 2 Italian sisters with congenital muscular dystrophy: a clinical and neuroradiological follow-up. 767 85

In the classical form of congenital muscular dystrophy (CMD), subclinical brain involvement is frequent. In order to establish the natural evolution of CNS alterations in this type of CMD, the cerebral functions of 12 cases were examined longitudinally for a mean period of 8 years. There were 7 boys and 5 girls, with a mean age of 5 years at first evaluation and 13 at the last one. Merosin expression in muscle fiber basement membrane, evaluated in 10 of them, was normal in 6 and deficient in 4. CNS conditions were followed up by repeated neuropsychiatric examinations, intelligence tests, EEG and brain CT scan and/or MRI. Eight of the 12 patients (including the 4 with merosin-deficiency) had normal intelligence, while 4 had mild to moderate mental retardation: in all the intellectual ability was unchanged during the follow-up study. CT scan detected minor brain alterations in 9 patients: 6 of these, the 4 with merosin deficiency and 2 others in whom merosin was not evaluated, presented leukoencephalopathy: on neuroimaging reappraisal it was unchanged in 3, improved in 2 and worse in 1 (a merosin-deficient case). Cerebellar alterations or mild ventricular dilatation were detected in 8 cases, including 3 merosin-non-deficient ones: these abnormalities were unchanged at the last study by CT and MRI, as were the normal neuroimaging findings observed in 3 other cases. Overall, during our study the brain alterations found in classical CMD showed a stationary or an improving course; progressive worsening was observed only in 1 of 4 merosin-deficient cases with leukoencephalopathy.
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PMID:Brain alterations in the classical form of congenital muscular dystrophy. Clinical and neuroimaging follow-up of 12 cases and correlation with the expression of merosin in muscle. 893 20