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Fig. 2 | Orphanet Journal of Rare Diseases

Fig. 2

From: Neurodevelopmental retardation and neurological symptoms in homozygous variegate porphyria: two new cases and a literature review

Fig. 2

Brain MRIs of patient 1 at the age of 5 months A–D and patient 2 at the age of 3 years and 4 months E–H show hyperintensity of cerebral (arrows in A + B and E + F) and cerebellar (arrows in C + D and G + H) white matter on T2w axial images and hypointensity on T1w and IR images respectively, including the corpus callosum and the inner capsule which indicates the absence of regular myelination, suggesting severe hypomyelination as defined by a substantial and permanent deficit in CNS myelin deposition

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172