Woodhouse-Sakati

Woodhouse-Sakati Syndrome is an inherited autosomal recessive disorder caused by a mutation in the DCAF17 gene.

 

It has been described in approximately 30 patients from Middle Eastern families, one Caucasian woman and three siblings from an Indian family. A founder mutation accounts for the cases in the Middle Eastern population.

Clinical Diagnosis of Woodhouse-Sakati

 

  • The onset is usually in adolescence.

  • T-2 weighted MRI views of the brain indicating iron accumulation.

  • It is a multisystemic disorder characterized by hypogonadism, alopecia (hair loss), diabetes mellitus, intellectual deficit and extrapyramidal signs with dystonia ( involuntary muscle cramping that may force certain body parts into unusual, and sometimes painful, movements and positions) and choreoathetosis (a condition characterized by involuntary, rapid, jerky movements (chorea) occurring in association with relatively slow, sinuous, writhing motions (athetosis).

  • Additional manifestations may include sensorineural deafness, which is a type of hearing loss in which the root cause lies in the vestibulocochlear nerve (cranial nerve VIII), the inner ear, or central processing centers of the brain. Sensorineural hearing loss can be mild, moderate, or severe, including total deafness.

  • Also seen are flattened T waves on an ECG, seizures, sensory polyneuropathy, and dysarthria (poor articulation and slurring).

  • There may be various craniofacial abnormalities such as a high forehead, flat occiput, triangular face, prominent nasal root, hypertelorism which is an abnormally increased distance between the eyes, and down-slanting palpebral fissures.

  • Scoliosis, hyperreflexia (overactive or over responsive reflexes), and camptodactyly which involves the fixed flexion deformity of the interphalangeal joints of the little finger are also seen.

Please visit the NBIA Disorders Association website, which was used as a primary source for the above information.