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Figure 1 | Orphanet Journal of Rare Diseases

Figure 1

From: 29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype

Figure 1

Brain MRI and morphological aspects of adult PMM2-CDG. Upper panel. Brain MRI of patient #19 at 16 years old. T1-weighted sagittal (A) and frontal (B) images showing severe atrophy of the cerebellum, including vermis and hemispheres, and less atrophied pons. Lower panel. Picture of a 32 year-old patient with severe ataxia, neuropathy and severe intellectual disability (C). Picture of a 45 year-old patient showing the abnormal fat repartition typical of PMM2-CDG (D).

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172