PMID: 9006654Jan 1, 1997Paper

Early-infantile galactosialidosis with multiple brain infarctions: morphological, neuropathological and neurochemical findings

Acta Neuropathologica
C NordborgJ E Månsson

Abstract

Post-mortem morphological, neuropathological and neurochemical findings are described in a girl, aged 14 months, with the early-infantile form of galactosialidosis. An elevation in non-lipid sialic acid was noted in both the grey and white matter of the brain, whereas the white matter displayed a clear reduction in all the major lipids. Multiple cortical-subcortical infarctions were found in the brain, most probably caused by compromised circulation due to endothelial luminal encroachment. Electron microscopy of cerebral blood vessels revealed major swelling of the endothelium due to prominent cytoplasmic vacuolisation. Multiple cytoplasmic vacuoles containing sparse granular or membranous matter were also seen in neurons and glial cells of the brain and spinal cord. Zebra bodies were found in the Purkinje cells, as well as in the spinal anterior horn cells. Prominent endothelial vacuolisation was noted in the liver and kidneys. The renal vascular encroachment was probably the cause of the arterial hypertension with elevated plasma renin activity in the present case. There were innumerable fine vacuoles in the renal epithelium and in the Kupffer cell of the liver, whereas coarser vacuoles were observed in the hepatocytes. The n...Continue Reading

Citations

Dec 11, 2008·Journal of Bone and Mineral Metabolism·Masaaki MasuharaYoshiyuki Hakeda
Apr 2, 2009·Pediatrics·Orna Staretz-ChachamEllen Sidransky
Jan 8, 2000·Ultrastructural Pathology·Y AraiL E Becker
Mar 6, 2012·Molecular Genetics and Metabolism·Anna LehmanAleksander Hinek
May 27, 2009·Trends in Cardiovascular Medicine·Alexey V Pshezhetsky, Aleksander Hinek
Dec 23, 2008·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Niklas DarinJan-Eric Månsson
Apr 24, 2008·Pathology International·Kentaro KoikeKensuke Joh
Feb 11, 1998·Brain Pathology·K SuzukiK Suzuki
Apr 9, 2021·The American Journal of Chinese Medicine·Jun-Yuan ZhangLian-Wen Qi

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