[Pathomorpholigical findings in ketothiolase deficiency].

The post-mortem findings in two brothers who had suffered from clinically and biochemically confirmed ketothiolase deficiency are reported. They had died as a consequence of metabolic-acidotic crisis at the age of 6 years and 9 months and 4 years and 1 month, respectively. Autopsy revealed cardiac hypertrophy and brain pathology in both children. The latter consisted of loss of neurons, spongiosis and slight reactive astrocytosis affecting parasagittal areas of the parietal and occipital cortex, visual cortex, putamen, caput nuclei caudati and claustrum. Furthermore demyelination of the visual pathways, including chiasma opticum, was seen. Changes in both hemispheres were almost symmetric. In the younger child, changes were less severe than in the older one in whom the course of the disease had been longer. To the best of our knowledge this is the first report of autopsy findings in siblings with ketothiolase deficiency.