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  • 1
    ISSN: 1432-1076
    Keywords: Key words Osteochondrodysplasia ; Cerebral ischaemia ; Immunologic deficiency syndrome ; Kidney failure ; Hypothyroidism ; Focal glomerulosclerosis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Schimke immuno-osseous dysplasia (SIOD) is a rare autosomal recessive spondylo-epiphyseal dysplasia. The characteristic features of SIOD include 1) short stature with hyperpigmented macules and an unusual facies, 2) proteinuria with progressive renal failure, 3) lymphopenia with recurrent infections, and 4) cerebral ischaemia. Although 25 patients have been reported with this disorder, the clinical course and phenotype of SIOD are not well characterized. This report summarizes the clinical findings, course and treatment of reported patients and includes 14 additional patients with SIOD. We emphasize the high incidence of cerebral ischaemia and ocular abnormalities, define the high incidence of thyroid dysfunction and blood cytopenia, and confirm the absence of effective and durable medical therapies. Conclusion Schimke immuno-osseous dysplasia is a multi-system autosomal recessive disorder with variable expression that affects the skeletal, renal, immune, vascular, and haematopoietic systems. Medical therapy is limited especially for more severely affected individuals.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1432-1920
    Keywords: Krabbe's disease ; CT scanning ; globoid cell leukodystrophy ; gliosis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary We report computed tomography (CT) appearance of two patients with Krabbe's disease. The most common findings included severe brain atrophy: an enlarged frontal extracerebral space, dilatation of ventricles, enlarged cisterns and enlarged cortical sulci. There was low attenuation in the corpus medullaris of the cerebellum, and symmetrical focal hypodensity in the central periventricular white matter. CT at the terminal stage (16 months) showed marked cerebral atrophy including flattening of the heads of caudate nuclei and widening of the third ventricles confirmed by a neuropathological study. There was relatively less low density on the white matter of Krabbe's disease compared with that of other leukodystrophies. These CT findings may be useful in the diagnosis. The relative lack of low density in the white matter of Krabbe's disease might be related to severe gliosis and reduced total lipid contents.
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 1432-1920
    Keywords: Trisomy 18 ; Trisomy 13 ; Brain imaging ; Neuropathology
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary A comparative study of intracranial imaging and brain pathology in cases of trisomy 18 and 13 was performed. Computed tomography (CT) and ultrasonography (US) revealed disproportional dilatation of the lateral ventricles, a wide Sylvian fissure and a large extracerebellar space with a small cerebellum in each case. In addition, it was characteristic that the occipital poles of the cerebrum protruded in the infero-posterior direction in trisomy 18, and the pontine basis was relatively wide in trisomy 13. The brain pathology in trisomy 18 and 13 demonstrated that the large extracerebellar space is due to the cerebellar dysplasia and protruding occipital poles, the wide Sylvian fissures due to the temporal lobes or external capsular dysplasia, and the relatively wide pontine basis due to meningeal glioneuronal heterotopia. Thus, the characteristic intracranial image in trisomy 18 and 13 suggest microdysgenesis of the brain and might be useful for understanding the pathological structure of the central nervous system in these conditions.
    Type of Medium: Electronic Resource
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  • 4
    ISSN: 1432-1920
    Keywords: Computed tomography ; Ventricular dilatation ; Colpocephaly ; Brain damage
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Cranial computed tomography (CT) of 108 cases with dilated lateral ventricles was reviewed to elucidate the relationship between focal vulnerability of developing brain and disproportional dilatation of lateral ventricles. CT findings of 108 cases with symmetrical dilatation of lateral ventricles were classified into three types by morphometry of lateral ventricles: anterior horn predominant type (31 cases), diffuse type (36 cases), posterior horn predominant type (41 cases). Posterior horn predominant type has a tendency to occur in congenital anomalies and premature brain damage, and anterior horn predominant type in infantile brain damage. This disproportional dilatation of anterior or posterior horns suggests a vulnerability of periventricular structure in developing brain.
    Type of Medium: Electronic Resource
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