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Acute basal ganglia infarction in propionic acidemia
R H Haas1, D L Marsden, S Capistrano-Estrada
1Department of Neurosciences, University of California San Diego 92093-0935, USA.
Journal of Child Neurology
|January 1, 1995
Summary
Propionic acidemia can cause rapid, fatal brain necrosis in children, even with good metabolic control. This case highlights the complex pathophysiology of metabolic stroke, challenging previous understandings.
Area of Science:
- Neurology
- Biochemistry
- Pediatrics
Background:
- Propionic acidemia is an inherited metabolic disorder affecting amino acid metabolism.
- Metabolic stroke is a known complication, typically associated with poor metabolic control.
Observation:
- An 8-year-old girl with propionic acidemia presented with acute aphasia, hypotonia, and weakness.
- Neuropathological examination revealed symmetric necrosis of the caudate, globus pallidus, and putamen.
- Despite severe neurological symptoms, urine and cerebrospinal fluid organic acid analysis showed good metabolic control.
Findings:
- The patient experienced acute, fatal symmetric basal ganglia necrosis.
- Metabolic decompensation was absent, contradicting typical associations with metabolic stroke.
- Cerebrospinal fluid organic acid levels were unremarkable.
Implications:
- The pathophysiology of metabolic stroke in propionic acidemia is more complex than previously understood.
- Metabolic control alone may not prevent severe neurological injury in some cases.
- This case underscores the need for further research into the mechanisms underlying metabolic stroke.