Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive neurodegenerative genetic disorder caused by mutations in the DCAF17 gene. It primarily manifests with endocrinological symptoms such as hypogonadism, failure to develop secondary sexual characteristics, diabetes, and hypotrichosis. Neurological manifestations include intellectual disabilities, dystonia, dysarthria, and hearing loss. This paper describes the cases of two Saudi Arabian sisters, aged 37 and 36, who were born to first-degree consanguineous parents. They had normal growth and development except for certain intellectual disabilities. However, they were presented with primary amenorrhea and no secondary sexual characteristics at puberty, and they were subsequently diagnosed with WSS. The first patient presented with dysmorphic features, dysarthria, tremors, and dystonia. The second patient presented with hypotrichosis, predominantly affecting the temporo-occipital regions, and cerebellar signs on physical exam. Both patients had hair thinning and bilateral sensorineural hearing loss. Brain MRI of both patients showed increased iron deposition in the basal ganglia and multiple faint T2-FLAIR (fluid-attenuated inversion recovery) hyperintensity foci involving the centrum semiovale, corona radiata, and peritrigonal white matter bilaterally. MRI abdomen of the second patient revealed early hepatic fibrosis, with diffuse moderate to severe hepatic steatosis reaching a fat fraction of 19%, and increased intensity of the splenic vein with multiple collaterals. Further research is needed to achieve a better understanding of this syndrome to improve patient care and outcomes.
Keywords: genetics; mri; neurological disorders; neuroradiology; woodhouse-sakati syndrome.
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