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[Pathomorpholigical findings in ketothiolase deficiency]

W Jänisch1, V Hesse, B Fiedler

  • 1Institut für Pathologie der Humboldt-Universität, Berlin, Deutschland.

Zentralblatt Fur Pathologie
|August 1, 1993
PubMed
Summary

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.

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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.

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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.