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Atypical imaging findings in the setting of methylmalonic acidemia in an infant
Abstract:
Classically, methylmalonic acidemia (MMA) is characterized on imaging by abnormalities in the basal ganglia, specifically the globus pallidi, as well as occasional signs of delayed maturation. We report a case of MMA in which abnormal signal and diffusion restriction occurred in the subcortical white matter, sparing the classically involved globus pallidi, a situation that has not been previously reported in the literature. This report demonstrates that diffusion abnormality can be seen in the white matter in MMA, in the absence of basal ganglia involvement, and that MMA may be considered when the diagnosis of metabolic acidemias is raised.
Insights
Methylmalonic acidemia (MMA) typically affects the basal ganglia. This case highlights white matter diffusion abnormalities in MMA, even without basal ganglia involvement, expanding diagnostic considerations for metabolic acidemias.
Area of Science:
- Neurology
- Metabolic Disorders
- Neuroimaging
Background:
- Methylmalonic acidemia (MMA) is an inherited metabolic disorder.
- Classic neuroimaging findings in MMA include basal ganglia (globus pallidi) abnormalities and delayed maturation.
- These characteristic findings aid in the diagnosis of MMA.
Observation:
- A case of MMA presented with distinct neuroimaging findings.
- Abnormal signal intensity and diffusion restriction were observed in the subcortical white matter.
- Notably, the globus pallidi, typically affected in MMA, were spared in this case.
Findings:
- This case demonstrates that MMA can manifest with white matter diffusion abnormalities.
- The absence of basal ganglia involvement in the observed imaging is a novel presentation.
- This finding challenges the classical imaging profile of methylmalonic acidemia.
Implications:
- The diagnostic spectrum of MMA on neuroimaging is broader than previously recognized.
- Clinicians should consider MMA in cases of unexplained white matter diffusion abnormalities.
- This expands the differential diagnosis for metabolic acidemias presenting with atypical imaging findings.
