Woodhouse-Sakati syndrome is a rare autosomal recessive genetic disorder characterized by neurodegeneration resulting from mutations in the DCAF17 gene.
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Clinical presentation
Its primary clinical features involve endocrine abnormalities, such as hypogonadism, the absence of secondary sexual characteristics, diabetes mellitus, and sparse hair growth. Additionally, Woodhouse-Sakati syndrome may present with neurological symptoms, including intellectual disability, dysarthria, dystonia, and hearing loss 1.
Radiographic features
Imaging findings include a small pituitary gland, increased iron deposition in the basal ganglia, and on MRI, non-enhancing T2/FLAIR hyperintensities in the frontoparietal periventricular white matter bilaterally 1,2. These findings are progressive with age.
Differential diagnosis
The differentiation of Woodhouse-Sakati syndrome from other subtypes of
neurodegeneration with brain iron accumulation can be suggested by identifying the combination of pituitary hypoplasia and white matter lesions 2.
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