Spontaneous Rapid Resolution of Acute Basal Ganglia Changes in an Untreated Infant with Propionic Acidemia: A Clue to Pathogenesis?

Abstract

Basal ganglia lesions are a well reported feature of acute decompensation in propionic acidemia; however, their underlying causation still needs to be fully elucidated. We report an 8-month-old infant whose lesions had almost completely resolved radiologically within 3 weeks of initial presentation without specific metabolic management and in light of this, we discuss the current thinking on their pathogenesis.

Key words

propionic acidemia - methyl citrate - cerebral oedema - basal ganglia - Krebs cycle

References

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