Conventional and advanced MR imaging in infantile Refsum disease

Area of Science:

• Neurology
• Radiology
• Biochemistry

Background:

• Infantile Refsum disease is a rare peroxisomal disorder.
• Accurate diagnosis is crucial for management and prognosis.

Observation:

• The study details magnetic resonance (MR) imaging, including diffusion-weighted imaging (DWI) and proton MR spectroscopy (MRS), in a patient with infantile Refsum disease.
• Clinical and biochemical data supported the initial diagnosis.

Findings:

• MR imaging showed bilateral, symmetrical T2 signal hyperintensities in the peritrigonal white matter, centrum semiovale, thalami, corpus callosum, and corticospinal tracts, suggestive of a peroxisomal disorder.
• Facilitated diffusion was observed in affected brain parenchyma.
• Long echo-time (270 ms) MRS revealed decreased N-acetyl-aspartate/creatine, elevated choline/creatine and lactate.
• Short echo-time (30 ms) MRS demonstrated increased myoinositol and lipid peaks.

Implications:

• MR imaging and proton MRS are valuable tools for the differential diagnosis of infantile Refsum disease.
• These neuroimaging findings can guide clinicians in identifying this rare metabolic disorder.
• The study highlights the utility of advanced MR techniques in characterizing white matter abnormalities in peroxisomal disorders.