Woodhouse - Sakati syndrome

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.

Findings:
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.