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Brain MR Imaging Findings in Woodhouse-Sakati Syndrome

Brain MR Imaging Findings in Woodhouse-Sakati Syndrome ORIGINAL RESEARCH ADULT BRAIN X A.H. Abusrair, X S. Bohlega, X A. Al-Semari, X F.S. Al-Ajlan, X K. Al-Ahmadi, X B. Mohamed, and X A. AlDakheel ABSTRACT 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 theDCAF17 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%), pro- nounced basal ganglia iron deposition (73%), and white matter lesions in 69.2%. White matter lesions showed frontoparietal and periven- tricular 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 http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png American Journal of Neuroradiology American Journal of Neuroradiology

Brain MR Imaging Findings in Woodhouse-Sakati Syndrome

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Publisher
American Journal of Neuroradiology
Copyright
© 2018 by American Journal of Neuroradiology
ISSN
0195-6108
eISSN
1936-959X
DOI
10.3174/ajnr.A5879
Publisher site
See Article on Publisher Site

Abstract

ORIGINAL RESEARCH ADULT BRAIN X A.H. Abusrair, X S. Bohlega, X A. Al-Semari, X F.S. Al-Ajlan, X K. Al-Ahmadi, X B. Mohamed, and X A. AlDakheel ABSTRACT 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 theDCAF17 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%), pro- nounced basal ganglia iron deposition (73%), and white matter lesions in 69.2%. White matter lesions showed frontoparietal and periven- tricular 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

Journal

American Journal of Neuroradiology – American Journal of Neuroradiology

Published: Dec 1, 2018

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