Related Experiment Videos
Cerebellar hemorrhage complicating methylmalonic and propionic acidemia.
Archives of Neurology
|December 1, 1984
Summary
Cerebellar hemorrhage is a critical complication in infants with methylmalonic (MMA) and propionic (PPA) acidemias. Prompt brain imaging and potential surgical intervention are vital for survival in these rare inherited metabolic disorders.
Area of Science:
- Biochemistry
- Neurology
- Genetics
Background:
- Methylmalonic acidemia (MMA) and propionic acidemia (PPA) are inherited metabolic disorders.
- These conditions present with diverse clinical and biochemical manifestations.
Observation:
- This study details neuropathologic findings in two infants with MMA and PPA.
- Both infants experienced fatal cerebellar hemorrhage.
Findings:
- Cerebellar hemorrhage is a potential, life-threatening complication in infants with severe organic acidemias.
- Rapid neurological decline, even with corrected acidosis/hyperammonemia, warrants brain imaging.
Implications:
- Cerebellar hemorrhage should be suspected in infants with fulminating organic acidemias.
- Timely computed tomography (CT) scans and possible surgical evacuation of blood can improve survival chances.