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Methylmalonic acidaemia with bilateral globus pallidus involvement: a neuropathological study
A Larnaout1, M A Mongalgi, N Kaabachi
1Institut National de Neurologie, Tunis, Tunisia.
Journal of Inherited Metabolic Disease
|October 8, 1998
Summary
Methylmalonic acidaemia (MMA) can cause severe neurological complications, including basal ganglia lesions and extrapyramidal disorders. Ischaemia and energy depletion are implicated in the neuropathology of MMA.
Area of Science:
- Biochemistry
- Neurology
- Pediatrics
Background:
- Methylmalonic acidaemia (MMA) is an inherited metabolic disorder.
- It leads to the accumulation of toxic metabolites, affecting various organs.
Observation:
- A 16-month-old boy presented with severe ketoacidosis, lethargy, hypotonia, vomiting, and dyspnea.
- He later developed an acute extrapyramidal disorder with basal ganglia lucency on CT scan.
- Neuropathology revealed pallidal necrosis, spongiosis, and lipid-laden macrophages.
Findings:
- Gas chromatography-mass spectrometry confirmed methylmalonic acidaemia.
- The patient experienced acute neurological deterioration and died at 17 months.
- Post-mortem examination identified significant neuropathological changes, particularly in the basal ganglia.
Implications:
- Pallidal infarction suggests that ischaemia and energy depletion are key factors in MMA neuropathology.
- Understanding these mechanisms may guide future therapeutic strategies for MMA.
- This case highlights the severe neurological manifestations and potential fatality of untreated MMA.