Hypomyelination and Congenital Cataract: Neuroimaging Features of a Novel Inherited White Matter Disorder

HCC: intermediate stage (patient 6, 8 years of age). A, Axial T1-weighted image (513/12/2, TR/TE/NEX) shows diffuse mild hypointensity of the supratentorial white matter, resulting in blurred gray-white matter interface, consistent with hypomyelination. B, Axial T2-weighted image (4500/108/4, TR/TE/NEX) shows moderate diffuse white matter hyperintensity, also consistent with hypomyelination. Note that the signal intensity is significantly lower than that of CSF. C, Coronal T2-weighted image (4531/112/4, TR/TE/NEX) shows mild hyperintensity of the white cores of the cerebellar hemispheres as well as residual myelination of the medullary laminae (arrows).

HCC: intermediate and chronic stages (patient 7). A, Axial T1-weighted image (437/16/2, TR/TE/NEX) obtained at 8 years of age shows hypointense deep and periventricular white matter, with an anterior-to-posterior gradient of severity. B, Axial T2-weighted image (4000/96/2, TR/TE/NEX) obtained at 8 years of age shows marked white matter hyperintensity, paralleling that of CSF and prevailing in the frontal regions. C, Axial DWI obtained at 15 years of age shows shrunken white matter with markedly increased diffusivity. The ADC value in deep frontal white matter was 2.094 mm²/s. D, Axial T2-weighted image (4157/100/2, TR/TE/NEX) confirms shrinkage of affected white matter (compare with B).