Figure 4 | Genetics in Medicine

Figure 4

From: SLC39A8 deficiency: biochemical correction and major clinical improvement by manganese therapy

Figure 4

Neuroradiological findings of subject A during MnSO4 · H2O substitution. (a) A magnetic resonance image (MRI) examination at day 259 of manganese therapy revealed T2 hyperintensive lesions in the subject’s caudate nuclei and putamina, a finding corresponding to those reported by Riley et al.17 in two sisters suffering from SLC39A8 deficiency. (b) No progression of the lesions was detected over the course of manganese therapy as demonstrated by an MRI performed at day 476 of therapy. (c,d) No signs of cerebral manganese accumulation were detected in T1 weighted sequences of the MRI performed at day 476. Cranial as well as cerebral asymmetry remains a key feature of the subject’s phenotype.

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