[Rare vascular diseases of the brain stem. The "locked-in" syndrome].
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Biomedical subjects
Publications and source records attributed to J Rafałowska.
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Biochemical, light and electron microscopic observations in six human fetuses between the 16th and 34th weeks of gestation and five infants, 1 day to 3 years old, are presented. The results indicate that myelination of the human spinal cord started before the 16th week of gestation, as a considerable amount of myelin is isolated at this time biochemically, and occasionally axons with loose myelin coils are observed in the electron microscope. It is also stressed that morphological studies are insufficient to evaluate the completion time of the myelination process, as it can be shown biochemically that qualitative myelin maturation takes a long time.
By means of microangiography investigations of small blood vessels were carried out postmortem in cases of brain strokes. It was observed that a part of the precapillary and capillary vessels had irregular, tortuous course, formed "glomeruli" or intertwinning patterns. Histological examinations of the same sections done by means of conventional methods showed very intense changes in the vascular walls in the form of their striking fibrosis and hyalinization. These changes were, most probably, responsible for the changed course of small brain vessels in old people. Microangiography is a method making possible observation of small precapillary and capillary vessels, assessment of their course under physiological and pathological conditions, demonstrating changes in their lumen (narrowing or occlusion). In serial sections it could be possible to determine accurately the range of tissue supplied by different vessels.
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A review is presented of literature data concerning vascular disease occurring in families. They manifested clinically as recurrent TIA, ischaemic and haemorrhagic strokes and other blood supply disturbances and lead to numerous vasogenic brain tissue damage of various intensity. Particularly evident lesions are observed in hemispheric white matter. Progressive neurological symptoms and dementia form the picture of subcortical leucoencephalopathy in several members of a family. Moyamoya disease, fibromuscular dysplasia, hereditary haemorrhagic telangiectasia, hereditary cerebral haemorrhage with amyloidosis, pseudoxanthoma elasticum, two types of subcortical encephalopathy in Japan, HERNS and CADASIL are described.
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Ultrastructural studies of the lumbar spinal cord in three children with Werdnig-Hoffmann (W-H) disease type Ia revealed numerous small neurons which appeared both atrophic and immature. We compared these motoneurons with anterior horn cells of a 3-month-old child, a 27-week and a 16-week human fetus, and found (1) that the motoneurons were much smaller in W-H disease, and (2) the Nissl substance was peripherally located and less developed. Signs of motoneuron immaturity as well as secondary degenerative changes suggest that in W-H disease neurons die either because they fail to make adequate peripheral contact or because the neurons are genetically intrinsically defective.
In 54 cases of brain infarction and 17 control cases the gasometric parameters and lactic acid level were determined in arterial blood and cerebrospinal fluid. Metabolic acidosis was demonstrated in the arterial blood and cerebrospinal fluid. Respiratory acidosis compensated partly metabolic acidosis. Changes in the cerebrospinal fluid were more frequent and more pronounced, especially in cases with fatal outcome. Deep disturbances of acid-base balance complicated with hypoxia may have prosnostic significance while moderate rise in lactic acid level is without this significance.
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