Neuroimaging Changes in Menkes Disease, Part 2.

Area of Science:

• Neurology
• Radiology
• Genetics

Background:

• Menkes disease is a rare, X-linked disorder of copper metabolism.
• It is characterized by severe, progressive neurological impairment.
• Understanding the evolution of brain changes is crucial for diagnosis and management.

Purpose of the Study:

• To define the frequency, timing, imaging features, and evolution of gray matter changes in Menkes disease using MR imaging.
• To analyze the spectrum of MR imaging findings in children with Menkes disease.

Main Methods:

• Retrospective review of MR imaging studies.
• Analysis of imaging features related to gray matter changes.
• Evaluation of timing and evolution of these changes in a large patient sample.

Main Results:

• Neurodegenerative changes and focal basal ganglia lesions are present in early disease phases.
• Subdural collections are less common than previously assumed but clinically important.
• Findings suggest diverse mechanisms of brain injury in Menkes disease.

Conclusions:

• MR imaging reveals early gray matter changes in Menkes disease, including neurodegeneration and basal ganglia lesions.
• The spectrum of MR imaging findings in Menkes disease is broad, requiring careful interpretation.
• Subdural collections, though less common, have diagnostic implications and can worsen clinical status.