Neuroimaging Changes in Menkes Disease, Part 2

Abstract

This is the second part of a retrospective and review MR imaging study aiming to define the frequency rate, timing, imaging features, and evolution of gray matter changes in Menkes disease, a rare multisystem X-linked disorder of copper metabolism characterized by early, severe, and progressive neurologic involvement. According to our analysis, neurodegenerative changes and focal basal ganglia lesions already appear in the early phases of the disease. Subdural collections are less common than generally thought; however, their presence remains important because they might challenge the differential diagnosis with child abuse and might precipitate the clinical deterioration. Anecdotal findings in our large sample seem to provide interesting clues about the protean mechanisms of brain injury in this rare disease and further highlight the broad spectrum of MR imaging findings that might be expected while imaging a child with the suspicion of or a known diagnosis of Menkes disease.

Fig 1.

MR imaging findings in Menkes disease according to age at examination. A, Our sample (26 children, 40 examinations). B. Literature review (62 children, 86 examinations).

Fig 2.

Brain MR imaging in a 5-month-old boy (patient 17) affected by Menkes disease. A, Axial T2-weighted image shows inhomogeneous hyperintensity in the anterior portion of the neostriatum more evident on the left side. B, Axial diffusion-weighted imaging (upper image) and apparent diffusion coefficient map (lower image) show small bilateral regions of restriction of the water molecule motion (arrowheads). C, Coronal T2-weighted image at the level of the anterior portion of the basal ganglia discloses the bilateral-though-asymmetric involvement of the caudate head, nucleus accumbens, and anterior putamen (arrowheads).

Fig 3.

Diameter of the third ventricle. A, Cross-sectional MR imaging findings in the 25 male children with Menkes disease show the significant correlation between ventricle dilation and age at examination (r = 0.4, P < .001). B, MR imaging findings in children with Menkes disease with neuroradiologic follow-up show significant ventricular enlargement despite a relatively short follow-up (median follow-up, 10.8 months; P = .01, paired t test).

Fig 4.

Axial FLAIR images at the level of the thalami. A, A 14-month-old boy (patient 14) shows bilateral hyperintensity of the pulvinar (arrowheads); bilateral subdural collections, brain atrophy, and abnormal myelination are also evident. B, An 87-month-old girl (patient 13) shows bilateral hyperintensity of the pulvinar. Note the severe symmetric volume loss of the thalami.

Fig 5.

Brain MR imaging of a 2-month-old boy (patient 3) disclosing a left cortical-subcortical occipital-temporal-parietal lesion. A, Axial diffusion-weighted images show that the lesion is markedly hyperintense (white arrowheads), mimicking an acute cerebral ischemia. ADC values were decreased (not shown). B, Coronal and sagittal T2-weighted images show the disappearance of the cortical ribbon (black arrowheads). The lesion was fully recovered at follow-up MR imaging 1 month later (not shown).