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Whole-brain Segmentation and Change-point Analysis of Anatomical Brain MRI—Application in Premanifest Huntington's Disease

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Neuroimaging Changes in Menkes Disease, Part 2.

R Manara¹, M C Rocco², L D'agata³

¹From the Neuroradiology (R.M., M.C.R.), Sezione di Neuroscienze, Medicine and Surgery Department, University of Salerno, Salerno, Italy rmanara@unisa.it.

AJNR. American Journal of Neuroradiology

|May 13, 2017

Summary

This summary is machine-generated.

Gray matter changes, including neurodegeneration and basal ganglia lesions, are early indicators in Menkes disease (a rare X-linked copper metabolism disorder). Subdural collections are less frequent but clinically significant.

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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.