Sunday 9 April 2023

Graefe Usher syndrome MRI

MRI brain shows:
Thinning of bony calvarium with inner table scalloping, cerebral cortical atrophy marked in bilateral frontal and temporal lobes with sub dural hygroma iso intense to Csf.
Diffuse cerebellar atrophy with widening of CSF space in posterior fossa overlying bilateral cerebral convexity, CP angle cisterns isointense to CSF.
Bilateral symmetric widening of bilateral internal auditory canal, Meckel's cave.
Widened empty sella.
Associated bilateral optic nerve atrophy, increased prominence of sub arachnoid spaces around bilateral optic nerves.

Imaging diagnosis: Graefe-Usher syndrome.

Usher syndrome is characterized by partial or total hearing loss, vision loss that worsens over time. The hearing loss is sensorineural, caused by abnormalities of the inner ear. 

A rare, congenital, autosomal recessive disorder characterized by retinitis pigmentosa and sensorineural hearing loss, first described by Von Graefe in 1858.