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Fig. 1 | Human Genomics

Fig. 1

From: A hypomorphic inherited pathogenic variant in DDX3X causes male intellectual disability with additional neurodevelopmental and neurodegenerative features

Fig. 1

Brain MRI of both affected syndromic ID cases. a Family pedigree showing the two affected brothers and the family pedigree. b (i) Axial T2 FLAIR of sibling 1 at age 16 demonstrates mild enlargement of the lateral ventricles and mild confluent hyperintensity in the adjacent white matter. (ii) Axial T2 FLAIR of sibling 1 2 years later demonstrates interval enlargement of the lateral ventricles and mild progression of the confluent hyperintensity in the adjacent white matter suggesting progressive damage to the central white matter and volume loss. (iii) Sagittal T1 demonstrates generalized volume loss in the corpus callosum that is more prominent in the genu and anterior body, further supporting central white matter volume loss that is more severe anteriorly. (iv) Axial T2 FLAIR of sibling 2 at age 15 demonstrates mild enlargement of the lateral ventricles and mild, symmetric hyperintensity in the adjacent white matter, suggesting central white matter volume loss and gliosis. (v) Axial T2 FLAIR of sibling 2 2 years later demonstrates mild interval increase in size of the lateral ventricles suggesting mild progression of central white matter volume loss, but no significant change in the periventricular hyperintensity. (vi) Sagittal T1 image is also comparable in appearance to his sibling, with prominent volume loss in the corpus callosum that is more striking anteriorly

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