Neuroimaging Changes in Menkes Disease, Part 1

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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).
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Fig 2.
Tortuosity index (A) and Smoker score values (B) in children with MD (box on the left) and age-matched controls (box on the right). The difference was highly significant (P < .0001).
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Fig 3.
Axial T2-weighted images at the level of the genu/splenium of the corpus callosum in a boy (patient 8) affected by Menkes disease, showing the progressive-though-delayed supratentorial myelination.

Table 1:

Main data on intracranial vessel abnormalities in our MD sample and in 29 controls

Table 2:

Demographics and main clinical data of our children with MD and of children with MD in the literature who underwent brain MRI

Demographics	Present Sample	Literature Review (On-line Appendix)
Sample size	26 Children	62 Children
Sex	25 M; 1 F	57 M; 5 F
Age at clinical onset (mean) (range) (mo)	3.7 ± 2.5 (1–8)^{^a}	4.5 ± 3.3 (0.1–14)^{^b}
Age at first MRI (mean) (range) (mo)	7.5 ± 5.9 (0.3–32.2)	7.1 ± 5.6 (0.6–34.0)
Follow-up MRI	8/26 Children	23/62 Children
Age at last follow-up (mean) (range) (mo)	25.3 ± 19.4 (3.6–86.7)	10.2 ± 6.28 (1.5–30)
Follow-up duration (mean) (range) (mo)	22.8 ± 23.1 (1.4–78.5)	6.1 ± 5.9 (0.3–26)
Epilepsy	23/26	37/62
Age at epilepsy onset (mean) (range) (mo)	6.5 ± 3.4 (2.2–15.0)	4.6 ± 3.3 (0.1–14)^{^c}