Unusual imaging findings in brain and spinal cord in two siblings with maple syrup urine disease

Area of Science:

• Neurology
• Metabolic Disorders
• Radiology

Background:

• Maple syrup urine disease (MSUD) is a rare inherited metabolic disorder characterized by the inability to metabolize branched-chain amino acids.
• Neurological complications are a hallmark of MSUD, with brain abnormalities frequently observed on Magnetic Resonance Imaging (MRI).
• However, spinal imaging features in MSUD have not been systematically investigated.

Observation:

• This study reports on two patients with biochemically confirmed MSUD.
• Unusual findings included enlarged Virchow Robin spaces in the brain.
• Novel spinal cord changes were also identified on MRI.

Findings:

• The study identified previously unreported spinal MRI findings in MSUD cases.
• Enlarged Virchow Robin spaces were noted in the brain, alongside distinct spinal cord abnormalities.
• These imaging features contribute to the understanding of MSUD's impact on the central nervous system.

Implications:

• The identification of novel spinal MRI findings in MSUD expands the diagnostic imaging spectrum for this rare metabolic disorder.
• Recognizing these spinal changes may assist clinicians in the diagnosis and management of MSUD.
• Further research into spinal cord involvement in MSUD is warranted to elucidate the full spectrum of neurological manifestations.