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  • 1
    ISSN: 1432-1920
    Keywords: Down's syndrome ; CT scanning ; morphometric change ; basal ganglia calcification ; preniature aging ; small posterior fossa
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary We report characteristic and morphometric changes of cranial computed tomography (CT) with increasing age in 56 patients with Down's syndrome aged from 0 month to 37 years. Patients were compared with 142 normal controls aged 0 to 59 years. Width of ventricles, Sylvian fissures, posterior fossa, pons and cisterna magna were measured on CT. The incidences of the cavum septi pellucidi, cavum vergae and cavum veli interpositi and high density in the basal ganglia were examined. There was high incidence (10.7%) of bilateral calcification of basal ganglia in Down's syndrome, although that of pineal body and choroid plexus calcification was similar in Down's syndrome and controls. Basal ganglia calcification is more frequently seen in young Down's syndrome and may be related to the premature aging characteristic of Down's syndrome. The CT in Down's syndrome showed relatively small posterior fossa, small cerebellum, small brain stem and relatively large Sylvian fissures in those under one year of age. There was a high frequency of midline cava and large cisterna magna. There were no significant atrophic changes on CT except after the fifth decade comparing with controls.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1435-232X
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Duchenne muscular dystrophy and congenital muscular dystrophy (Fukuyama type) were analyzed clinically, genetically and epidemiologically in Shimane Prefecture in the Western Honshu Island of Japan. Cases were collected from all available sources and the diagnosis was reexamined by our group, yielding a total of 83 patients with various myopathies. Thirty-two patients with Duchenne muscular dystrophy were found. Their clinical manifestations were not different from cases occurring elsewhere in Japan. The incidence rate of this type was 20.8×10−5. Parental consanguinity of the cases was noted in 18.5%, considerably higher than control families. As to the Fukuyama type of congenital muscular dystrophy, 11 patients were identified. The incidence rate was 5.60×10−5. There was no doubt that an autosomal recessive pattern of inheritance was involved in these patients. The gene frequency was estimated as 0.0075.
    Type of Medium: Electronic Resource
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