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.

Mazabraud's syndrome

A young patient presented with mild left thigh pain with swelling.

MRI with Xray correlation shows:

1. Mixed signal intensity lobulated lesion involving metadiaphysis of left proximal femur, part of adjacent epiphysis. Lesion is slightly expansile with groundglass matrix in the region of metaphysis on x-ray. No periosteal reaction on x-ray as well as MRI. No obvious pathological fracture. No abnormal adjacent bone marrow oedema on STIR.

Imaging wise possible diagnosis: Fibrous dysplasia.

2. Multiple T2 hyperintense lobulated space-occupying lesions involving muscles of left adductor compartment. The largest lesion measuring approximately 76 mm x 40 mm at a distance of 20 cm from greater trochanter on medial aspect of femur at 7 o’clock position on axial section.

Imaging wise possible diagnosis: intramuscular myxomas.

Intramuscular myxomas + left femoral fibrous dysplasia = Mazabraud's syndrome.