CASE 16396 Published on 27.06.2019

Woodhouse - Sakati syndrome

Section

Neuroradiology

Case Type

Clinical Cases

Authors

Babu Peter Sathyanathan

BARNARD INSTITUTE OF RADIOLOGY, MADRAS MEDICAL COLLEGE

CHENNAI, INDIA

Patient

17 years, male

Categories
Area of Interest Cardiac, Neuroradiology brain, Neuroradiology spine ; Imaging Technique MR, MR-Diffusion/Perfusion
Clinical History

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 Findings

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).

Discussion

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.

Differential Diagnosis List
Neurodegeneration with brain iron accumulation consistent with Woodhouse - Sakati syndrome
Pantothenate kinase-associated neurodegeneration (PKAN)
Aceruloplasminemia
Neuroferritinopathy
Final Diagnosis
Neurodegeneration with brain iron accumulation consistent with Woodhouse - Sakati syndrome
Case information
URL: https://www.eurorad.org/case/16396
ISSN: 1563-4086