A 17-year-old male patient came to our department with a history of abnormal posturing of limbs, abnormal movements of hands and difficulty in speaking for 2 ½ years, which was gradually worsening. Difficulty in swallowing and learning disabilities were also present along with a history of hypogonadism. Ultrasonogram abdomen was normal. Ultrasonogram of scrotum showed bilateral small testis. Complete biochemical workup was done, which was non-contributory.
Imaging Technique: MRI Brain was done in a 3T MRI. Standard Brain Protocol with TIWI, T2WI, FLAIR, DWI and SWI images obtained.
Bilateral symmetric areas of gradient blooming noted in susceptibility-weighted images in lentiform nucleus (globus pallidus) (Fig 2). It is hypointense in T2WI (Fig 1).
Relative pituitary hypoplasia also noted (Fig 3).
Woodhouse - Sakati syndrome is caused by a mutation in the DCAF17 gene and inherited in an autosomal recessive manner. Typical clinical features in this disorder include hypogonadism, alopecia, diabetes mellitus, and progressive extrapyramidal signs [1, 3].
The MRI imaging findings described in this disorder include small pituitary gland, basal ganglia iron deposition and white matter changes [1, 2].
It comes under the category of neurodegeneration with brain iron accumulation (NBIA). NBIA represents a group of neurodegenerative diseases featuring extra pyramidal movement disorder, intellectual deterioration and basal ganglia iron deposition.
Written informed patient consent for publication has been obtained.
 Brain MR Imaging Findings in Woodhouse-Sakati Syndrome A.H. Abusrair, S. Bohlega, A. Al-Semari, F.S. Al-Ajlan, K. Al-Ahmadi, B. Mohamed and A. Al Dakheel American Journal of Neuroradiology November 2018 (PMID: 30409855).
 Neuroimaging Features of Neurodegeneration with Brain Iron AccumulationM.C. Kruer, N. Boddaert, S.A. Schneider, H. Houlden, K.P. Bhatia, A. Gregory, J.C. Anderson, W.D. Rooney, P. Hogarth and S.J. Hayflick. American Journal of Neuroradiology March 2012, 33 (3) 407-414; DOI: https://doi.org/10.3174/ajnr.A2677 (PMID: 21920862).
 Woodhouse-Sakati Syndrome: Report of the First Tunisian Family with the C2orf37 Gene Mutation; Olfa Hdiji, Emna Turki, Journal of movement disorders 2016, DOI:10.14802/jmd.16003 (PMID: 27240811).