MRI features in 17 patients with l2 hydroxyglutaric aciduria

Area of Science:

• Neurology
• Metabolic Disorders
• Pediatrics

Background:

• L-2-hydroxyglutaric (l-2-HG) aciduria is a rare inherited metabolic disease.
• It typically presents in childhood with progressive neurological deterioration, including cerebellar ataxia, intellectual disability, and seizures.
• The condition is a leukencephalopathy characterized by white matter abnormalities.

Purpose of the Study:

• To retrospectively analyze and describe the characteristic brain magnetic resonance imaging (MRI) features of l-2-HG aciduria.

Main Methods:

• Retrospective review of brain MRI scans from patients diagnosed with l-2-HG aciduria.
• Analysis of imaging findings including white matter changes, cerebellar atrophy, and alterations in specific brain structures.

Main Results:

• Brain MRI in l-2-HG aciduria commonly shows non-specific subcortical white matter loss.
• Cerebellar atrophy and changes in the dentate nuclei and putamen are also observed.
• These MRI findings aid in the diagnosis, alongside elevated l-2-HG levels in bodily fluids.

Conclusions:

• Brain MRI is a crucial diagnostic tool for l-2-HG aciduria, revealing characteristic patterns of white matter and subcortical structure abnormalities.
• The described MRI features can assist in identifying this rare inherited metabolic disorder.