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Neuroimaging Changes in Menkes Disease, Part 1
R Manara1, L D'Agata2, M C Rocco3
1From the Neuroradiology (R. Manara, M.C.R.), Sezione di Neuroscienze, Medicine and Surgery Department, University of Salerno, Salerno, Italy rmanara@unisa.it.
Abstract:
Menkes disease is a rare multisystem X-linked disorder of copper metabolism. Despite an early, severe, and progressive neurologic involvement, our knowledge of brain involvement remains unsatisfactory. The first part of this retrospective and review MR imaging study aims to define the frequency rate, timing, imaging features, and evolution of intracranial vascular and white matter changes. According to our analysis, striking but also poorly evolutive vascular abnormalities characterize the very early phases of disease. After the first months, myelination delay becomes evident, often in association with protean focal white matter lesions, some of which reveal an age-specific brain vulnerability. In later phases of the disease, concomitant progressive neurodegeneration might hinder the myelination progression. The currently enriched knowledge of neuroradiologic finding evolution provides valuable clues for early diagnosis, identifies possible MR imaging biomarkers of new treatment efficacy, and improves our comprehension of possible mechanisms of brain injury in Menkes disease.
Insights
Menkes disease, a rare X-linked copper metabolism disorder, shows early vascular abnormalities and later myelination delays. Understanding these brain changes aids early diagnosis and treatment monitoring.
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.
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