Developmental Malformations
Von Hippel-Lindau disease
Sep. 28, 2024
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Pre- and postoperative MRI and x-rays in mucolipidosis III alpha/beta with cervical myelopathy
T2-weighted sagittal images (top row) and plain lateral radiographs (bottom row) of a 38-year-old woman with mucolipidosis III alpha/beta. Her symptoms include clumsiness and gait disturbance. Preoperative images are on the left (A, C), and comparison images taken 2 years postoperatively are on the right (B, D). Her myelopathic symptoms resolved immediately after surgery. The sagittal cervical alignment became lordotic after surgery, which was maintained until the final follow-up 6 years postoperatively. (Source: Terai H, Tamai K, Hoshino M, et al. Clinical outcomes of laminoplasty for patients with lysosomal storage disease including mucopolysaccharidosis and mucolipidoses: a retrospective cohort study. Orphanet J Rare Dis 2021;16(1):401. Creative Commons Attribution License. http://creativecommons.org/licenses/by/4.0.)