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Patient’s phenotype. (a) Hypopigmentation with blond hair and light skin. (b–e) MRI cross-sections; (b) T2 axial; (c) T2 coronal; (d) T1 sagittal; (e) T2 axial) showing enlargement of pericerebellar spaces (probably a mega cisterna magna; dashed blue arrow), irregular junction between white matter and gray matter and abnormality of gyration with polymicrogyria (red arrows) and hypoplasia of corpus callosum (blue arrow).
