Neuroimaging Changes in Menkes Disease, Part 1

Area of Science:

• Neurology
• Radiology
• Genetics

Background:

• Menkes disease is a rare, X-linked disorder affecting copper metabolism.
• Neurologic involvement is early, severe, and progressive, but brain pathology is not fully understood.

Purpose of the Study:

• To define the frequency, timing, imaging features, and evolution of intracranial vascular and white matter changes in Menkes disease.
• To improve understanding of brain injury mechanisms and identify potential biomarkers.

Main Methods:

• Retrospective and review Magnetic Resonance (MR) imaging study.
• Analysis of intracranial vascular and white matter changes over disease progression.

Main Results:

• Striking, poorly evolutive vascular abnormalities are present in early disease stages.
• Myelination delay and focal white matter lesions become evident after initial months, some showing age-specific vulnerability.
• Neurodegeneration in later stages may impede myelination.

Conclusions:

• The evolution of neuroradiologic findings offers insights for early Menkes disease diagnosis.
• MR imaging biomarkers may help assess new treatment efficacy.
• This study enhances comprehension of brain injury mechanisms in Menkes disease.