Brain MR Imaging Findings in Woodhouse-Sakati Syndrome.

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 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

SUBMITTER: Abusrair AH 

PROVIDER: S-EPMC7655421 | biostudies-literature | 2018 Dec

REPOSITORIES: biostudies-literature