EARLY-INFANTILE GALACTOSIALIDOSIS WITH MULTIPLE BRAIN INFARCTIONS - MORPHOLOGICAL, NEUROPATHOLOGICAL AND NEUROCHEMICAL FINDINGS

Post-mortem morphological, neuropathological and neurochemical finding s are described in a girl, aged 14 months, with the early-infantile fo rm of galactosialidosis. An elevation in non-lipid sialic acid was not ed in both the grey and white matter of the brain, whereas the white m atter displayed a clear reduction in all the major lipids. Multiple co rtical-subcortical infarctions were found in the brain, most probably caused by compromised circulation due to endothelial luminal encroachm ent. Electron microscopy of cerebral blood vessels revealed major swel ling of the endothelium due to prominent cytoplasmic vacuolisation. Mu ltiple cytoplasmic vacuoles containing sparse granular or membranous m atter were also seen in neurons and glial cells of the brain and spina l cord. Zebra bodies were found in the Purkinje cells, as well as in t he spinal anterior horn cells. Prominent endothelial vacuolisation was noted in the liver and kidneys. The renal vascular encroachment was p robably the cause of the arterial hypertension with elevated plasma re nin activity in the present case. There were innumerable fine vacuoles in the renal epithelium and in the Kupffer cells of the liver, wherea s coarser vacuoles were observed in the hepatocytes. The neuronal ultr astructural findings in the present case bear some resemblance to the few reported cases of late-infantile and adult cases of galactosialido sis. 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.