BACKGROUND AND PURPOSE: Woodhouse-Sakati syndrome is a rare autosomal recessive 
disorder characterized by hypogonadism, alopecia, diabetes mellitus, and 
progressive extrapyramidal signs. The disease is caused by biallelic pathogenic 
variants in the DCAF17 gene. The purpose of this study was to describe the 
spectrum of brain MR imaging abnormalities in Woodhouse-Sakati syndrome.
MATERIALS AND METHODS: We reviewed brain MR images of 26 patients with a 
clinical and genetic diagnosis of Woodhouse-Sakati syndrome (12 males, 14 
females; age range, 16-45 years; mean age, 26.6 years). Follow-up studies were 
conducted for 6 patients.
RESULTS: All patients had abnormal MR imaging findings. The most common 
abnormalities were a small pituitary gland (76.9%), pronounced basal ganglia 
iron deposition (73%), and white matter lesions in 69.2%. White matter lesions 
showed frontoparietal and periventricular predominance. All white matter lesions 
spared subcortical U-fibers and were nonenhanced. Prominent perivascular spaces 
(15.3%) and restricted diffusion in the splenium of the corpus callosum (7.6%) 
were less frequent findings. Follow-up studies showed expansion of white matter 
lesions with iron deposition further involving the red nucleus and substantia 
nigra. Older age was associated with a more severe degree of white matter 
lesions (P < .001).
CONCLUSIONS: Small pituitary gland, accentuated iron deposition in the globus 
pallidus, and nonenhancing frontoparietal/periventricular white matter lesions 
were the most noted abnormalities seen in our cohort. The pattern and extent of 
these findings were observed to correlate with older age, reflecting a possible 
progressive myelin destruction and/or axonal loss. The presence of pituitary 
hypoplasia and white matter lesions can further distinguish Woodhouse-Sakati 
syndrome from other neurodegenerative diseases with brain iron accumulation 
subtypes.