title: Early-infantile galactosialidosis with multiple brain infarctions: morphological, neuropathological and neurochemical findings.
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 neuronal ultrastructural findings in the present case bear some resemblance to the few reported cases of late-infantile and adult cases of galactosialidosis. The prominent endothelial vacuolisation and focal cerebrovascular lesions, that have not previously been described in galactosialidosis, may be features specific to the rapidly progressive early-infantile form.
authors.affiliation: Department of Pathology, Sahlgren's University Hospital, Göteborg, Sweden.
authors.forename: C
authors.initials: C
authors.lastname: Nordborg
authors.forename: M
authors.initials: M
authors.lastname: Kyllerman
authors.forename: N
authors.initials: N
authors.lastname: Conradi
authors.forename: J E
authors.initials: JE
authors.lastname: Månsson
mesh_terms: D001921:Brain / Q000648:ultrastructure; D002268:Carboxypeptidases / Q000378:metabolism; D043402:Cathepsin A; D002544:Cerebral Infarction / Q000378:metabolism* / Q000473:pathology*; D005260:Female; D005732:Gangliosides / Q000032:analysis; D006801:Humans; D007150:Immunohistochemistry; D007231:Infant, Newborn; D007234:Infant, Premature; D008055:Lipids / Q000032:analysis; D016464:Lysosomal Storage Diseases / Q000378:metabolism* / Q000473:pathology*; D009439:Neuraminidase / Q000378:metabolism; D011247:Pregnancy; D014781:Viscera / Q000378:metabolism / Q000648:ultrastructure; D001616:beta-Galactosidase / Q000378:metabolism
chemical_list: D005732:Gangliosides; D008055:Lipids; D009439:Neuraminidase; D001616:beta-Galactosidase; D002268:Carboxypeptidases; C468629:CTSA protein, human; D043402:Cathepsin A