Presentation
Young male with intellectual disability.
Patient Data
Diffuse bilateral symmetrical confluent areas of abnormal signal intensity (high FLAIR and T2) involving the white matter regions bilaterally (deep and sub-cortical). No associated areas of restricted diffusion or significant enhancement in the post-contrast T1WIs. Multiple small areas of high T2 and low T1 signal are noted involving the white matter more noted involving the deep white matter suggestive of cystic changes/dilated Virchow-Robin spaces. Relatively dilated ventricular system with prominent Sylvian fissures and brain cisterns as well as frontoparietal extra-axial CSF spaces. Thickened convolutions of the cerebral cortex especially frontoparietal regions showing loss of normal sulcation.
Case Discussion
In the presence of diffuse bilateral rather symmetrical white matter signal abnormalities with thickened cerebral cortex suggestive of cortical malformation (pachygyria) and numerous dilated perivascular spaces in a child, mucopolysaccharidosis has to be considered as a primary differential diagnosis among metabolic disorders.
In this instance, a diagnosis of mucopolysaccharidosis type I has been made after lab and genetic workup.
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