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Figure 3 | Orphanet Journal of Rare Diseases

Figure 3

From: Mutations in ALDH6A1encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria

Figure 3

MRI images taken at 13 and 21 months of age. (A, B) Axial FLAIR images show only minimal interval progression in myelination over a 9 month span, with diffuse thinning of periventricular white matter evident at 13 months. (C, D) Axial T2-weighted images show markedly delayed myelination, with mild ventricular dilatation and slight enlargement of the frontal extra-axial spaces. (E, F) Sagittal T2-weighted images show a diffusely thin corpus callosum. MR spectroscopy demonstrated normal peaks of NAA, creatine and choline, and absence of a lactate peak.

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172