Developmental Malformations
Myelomeningocele
Mar. 11, 2024
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Toll Free (U.S. + Canada): 800-452-2400
US Number: +1-619-640-4660
Support: service@medlink.com
Editor: editor@medlink.com
ISSN: 2831-9125
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Cranial MRI of a 9-year-old boy with an SDHAF1 mutation (c.22C > T p.Gln8X) who presented with spasticity and clumsiness at age 20 months. Axial T2-weighted (A-C) and coronal FLAIR-weighted (D) images show widespread bilateral T2-hyperintensities in the cerebral periventricular white matter. Involvement of the pons (C, full white arrow) and cystic lesions in the periventricular white matter (D, open arrow) are evident. Peripheral U-fibers are spared. These abnormalities were largely unchanged from those on neuroimaging at age 4 years. (Ohlenbusch et al 2012; Creative Commons Attribution License.)