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[Pathomorpholigical findings in ketothiolase deficiency]
W Jänisch1, V Hesse, B Fiedler
1Institut für Pathologie der Humboldt-Universität, Berlin, Deutschland.
Insights
Post-mortem analysis revealed cardiac and brain pathology in two brothers with ketothiolase deficiency who died from metabolic acidosis. This study presents the first autopsy findings in siblings with this rare genetic disorder.
Area of Science:
- Biochemistry
- Neuropathology
- Genetics
Background:
- Ketothiolase deficiency is a rare inherited metabolic disorder.
- It leads to severe metabolic acidosis and neurological complications.
Observation:
- Autopsy findings in two brothers with confirmed ketothiolase deficiency are presented.
- Both children experienced metabolic-acidotic crises leading to death.
- Cardiac hypertrophy and distinct brain pathologies were observed in both siblings.
Findings:
- Brain pathology included neuronal loss, spongiosis, and astrocytosis in specific cortical and subcortical areas.
- Demyelination of visual pathways, including the optic chiasm, was noted.
- Pathological changes were largely symmetric, with severity correlating with disease duration.
Implications:
- This report provides crucial neuropathological data for understanding ketothiolase deficiency.
- The findings highlight the severe systemic and neurological impact of this disorder.
- This is the first documented autopsy case series in siblings with ketothiolase deficiency, offering unique insights.
Abstract:
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.