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.
Highlights
MR imaging and MRA findings of children with Menkes disease (MD) were retro- inspection of the published images, we investigated the presence/
At the first MR imaging, increased artery tortuosity was present in 45/62 children with MD (73%), absent in 2, and not mentioned in 15
1856 Manara Oct 2017 www.ajnr.org were due to a halt or a delay in the myelination process, it appears unequivocally disentangled by the longitudinal MR imaging evaluation that, in our sample, repeatedly showed myelination progression (Fig 3) or even myelin full maturation at 7 years of age, though the latter child with MD was the female subject, likely with a milder form of MD
Summary
Sex Age at MRA (mean) (range) (mo) Tortuosity index (mean) (range) Smoker score (mean) (range). The finding was evident both on T2 parenchymal imaging and MRA (On-line Fig 1) Both semiquantitative and quantitative basilar artery evaluation showed significantly increased tortuosity compared with age-matched controls (P Ͻ .0001; Table 1 and Fig 2) and no correlation with age. Focal white matter lesions other than the tumefactive and DWI-hyperintense ones described above were detected at first MR imaging in 14/62 children with MD (23%; mean age, 7.2 Ϯ 3.6 months; range 3–17 months) and were not mentioned in the remaining 48/62 children. No further significant associations were found among clinical and neuroradiologic findings (eg, tumefactive lesions versus status epilepticus or refractory seizures in the month preceding MR imaging examination, tumefactive lesions versus basal ganglia abnormalities, increased vascular tortuosity severity versus inguinal hernia, a marker of connective tissue laxity, or basal ganglia lesions; P Ͼ .1 in all cases)
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