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  • 1985-1989  (2)
  • Brain imaging  (1)
  • Neonatal adrenoleukodystrophy  (1)
  • 1
    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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  • 2
    ISSN: 1432-0533
    Keywords: Neonatal adrenoleukodystrophy ; Peripheral nerve ; Inclusion body
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary The pathological findings for a sural nerve biopsy specimen in a case of neonatal adrenoleukodystrophy are described. The density and total number of myelinated fibers in the patient showed no significant changes compared with controls. On electric microscopy, however, thickness of the myelin was smaller in the patient than in controls. Some linear or trilamellar inclusion bodies were found in Schwann cells and fibroblasts, similar to those found in X-linked adrenoleukodystrophy. Büngner's bands were also seen on electron microscopy, and myelin ovoids and balls were seen in teased fibers. These results show that a sural nerve biopsy is useful for the diagnosis of neonatal adrenoleukodystrophy. We suspect that axonal or neuronal degeneration occurs with changes in myelin in neonatal adrenoleukodystrophy.
    Type of Medium: Electronic Resource
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