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Reversible diffusion weighted imaging changes in propionic acidemia.

Amit Kandel¹, Sirisa Kandel Amatya, E Ann Yeh

¹Department of Neurology, University at Buffalo, SUNY-Buffalo, Buffalo, NY, USA. akandel@buffalo.edu

Journal of Child Neurology

|April 26, 2012

Summary

This summary is machine-generated.

Propionic acidemia, a metabolic disorder, can cause brain changes during crises. These MRI-visible changes, like restricted diffusion, may reverse with treatment, improving neurological symptoms.

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Area of Science:

Neurology
Metabolic Disorders
Neuroimaging

Background:

Propionic acidemia is an inborn error of metabolism.
It often presents with significant neurologic manifestations.

Purpose of the Study:

To describe a case of propionic acidemia with specific neurological and neuroimaging findings during a metabolic crisis.
To investigate the reversibility of these neuroimaging findings.

Main Methods:

Case report of a 3-year-old boy with propionic acidemia.
Clinical assessment including neurological examination and electroencephalography (EEG).
Brain magnetic resonance imaging (MRI) including diffusion-weighted imaging (DWI) and apparent diffusion coefficient (ADC) mapping.

Main Results:

The patient presented with a metabolic crisis, headache, vomiting, and altered mental status.
EEG revealed focal slowing in the right temporal region.
Brain MRI demonstrated restricted diffusion in the right parietooccipital region, correlating with ADC values.
Clinical improvement and normalization of MRI DWI/ADC findings occurred after correction of metabolic acidosis.

Conclusions:

Restricted diffusion on brain MRI during metabolic crises in propionic acidemia may be reversible.
This reversibility suggests potential for recovery of brain tissue affected by metabolic derangements.
Early recognition and management of metabolic crises are crucial for neurological outcomes.