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AJNR - American Journal of Neuroradiology

Published ahead of print on November 1, 2007
doi: 10.3174/ajnr.A0792

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

A. Rossi^a, R. Biancheri^b, F. Zara^b, C. Bruno^b, G. Uziel^c, M.S. van der Knaap^d, C. Minetti^b and P. Tortori-Donati^a

^a Department of Pediatric Neuroradiology, G. Gaslini Children’s Research Hospital, Genoa, Italy
^b Muscular and Neurodegenerative Diseases Unit, G. Gaslini Children’s Research Hospital, Genoa, Italy
^c Department of Child Neurology, C. Besta National Neurological Institute, Milan, Italy
^d Department of Child Neurology, VU University Medical Center, Amsterdam, the Netherlands

View larger version (96K): [in this window] [in a new window]   Fig 1. HCC: early stage (patient 8, 20 months of age). Axial (A) and coronal (B) T2-weighted images (4157/100/2, TR/TE/NEX) show diffuse hyperintensity of the deep, periventricular, and capsular white matter with local sparing of the subcortical white matter (arrows, A and B) and callosal genu (arrowheads, A). The cerebellum is fully myelinated (B).

View larger version (82K): [in this window] [in a new window]   Fig 2. 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).

View larger version (138K): [in this window] [in a new window]   Fig 3. 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).

View larger version (42K): [in this window] [in a new window]   Fig 4. MR spectroscopy findings (patient 8, 20 months of age). On the upper right image corners, axial T2-weighted images (4157/100/2, TR/TE/NEX) show localization of an 18 x 18 x 18 mm region of interest over the right posterior periventricular white matter. A, Short echo-time MR spectrum (PRESS; 2000/23 ms, TR/TE) shows elevation of mIns/Cr and Cho/Cr ratios, normal NAA/Cr ratio, and abnormally elevated lipid peak at 1.29 ppm. B, Intermediate echo-time MR spectrum (PRESS; 2000/144 ms, TR/TE) confirms elevated Cho/Cr and normal NAA/Cr.