case_images: PMC3281774_01
case_images: MRI at age 61 demonstrating severe atrophy of the cerebral hemispheres, cerebellum, and brainstem. A-F: 3-D SPGR coronal MRI; G, H: T1 sagittal MRI; I-L: FLAIR axial MRI, showing white matter signal hyperintensities.
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case_images: F1
case_images: Brain MRI at that time revealed severe atrophy of the cerebellar hemispheres and vermis, pons, and middle cerebellar peduncles as well as moderate cerebral atrophy; a more recent study at age 61 showed these findings as well as more severe cerebral atrophy (Figure 1).
case_images: Results of audiometric testing at age 61 conforming to ANSI 1969 standards. ANSI = American National Standards Institute; dB = decibel; Hz = hertz; PTA = pure tone average.
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case_images: F2
case_images: Audiometry demonstrated moderate sensorineural hearing loss in the high frequencies on the left, and mild sensorineural hearing loss in the mid-frequencies on the right sloping to a severe loss in the high frequencies (Figure 2).
case_images: Results of MitoExome sequencing. Rare, protein-modifying variants were prioritized, revealing a homozygous c.1672C > T (p.R558C) missense mutation in exon 8 of WFS1 that has previously been reported in a patient with Wolfram syndrome.
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case_images: PMC3281774_01_1471-2350-13-3-3.jpg
case_images: F3
case_images: Rare, protein-modifying variants found to be homozygous or potentially compound heterozygous were prioritized (Figure 3), revealing an X-linked functional polymorphism c.937G > T (p.D313Y) in GLA that is not considered pathogenic and a homozygous c.1672C > T (p.R558C) missense mutation in exon 8 of WFS1 that has previously been reported in a patient with Wolfram syndrome.