Stroke-Like Episodes in Propionic Acidemia Caused by Central Focal Metabolic Decompensation

Abstract

Propionic acidemia caused by propionyl-CoA carboxylase deficiency frequently leads to neurologic complications. Herein we report an eleven-year-old patient with propionic acidemia having three stroke-like episodes during a period of 13 months characterized by acute reversible hemiplegia and vegetative symptoms like bradycardia or drowsiness. No biochemical signs of severe metabolic decompensation were detectable in plasma. At all three episodes, EEG was not indicative for status epilepticus, but in the acute episode it showed slowing of background activity emphasized on one side. MRI revealed reversible hyperintensities in cortical grey matter and basal ganglia. During the third episode a lumbar puncture was done in parallel with venous puncture. Concentrations of glutamine (902 μmol/L), glycine (24 μmol/L) and alanine (78 μmol/L) were elevated in CSF. In plasma glycine (1 859 μmol/L) and alanine (608 μmol/L) concentrations were also elevated, whereas the glutamine (458 μmol/L) concentration was normal. CSF/plasma ratios were elevated for glutamine (1.97) and alanine (0.13) and normal for glycine (0.01). We assume that the stroke-like episodes in our patient may be caused by an acute focal cerebral metabolic decompensation, which is detectable by unspecific changes in MRI and by measuring amino acids and lactate in CSF versus plasma.

Key words

propionic academia - CSF/plasma ratio - stroke-like episodes

References

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