Collagen VI–related dystrophies: Ullrich congenital muscular dystrophy, Bethlem muscular dystrophy, and intermediate COL6-RD
Nov. 08, 2021
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MRI of 2 patients with neuromyelitis optica, 1 with typical presentation (A, B) and another with atypical presentation (C, D). The latter patient presented with encephalopathy and cranial nerve dysfunction. In the typical presentation, brain MRI is normal at disease onset (A) but the cervical cord (B) shows extensive inflammation (arrow). In the atypical presentation brain MRI shows extensive brainstem disease (C) and the thoracic cord (D) shows extensive inflammation (arrow). (Contributed by Dr. Adil Javed.)