Temporal Bone CT Findings in Hajdu-Cheney Syndrome: Case Report with Review of the Literature

Area of Science:

• Genetics
• Radiology
• Otolaryngology

Background:

• Hajdu-Cheney Syndrome (HCS) is a rare genetic disorder affecting connective tissue and bone.
• Skeletal abnormalities are the primary manifestation, but hearing loss is also recognized.
• Specific imaging findings of the temporal bone in HCS have not been previously reported.

Purpose of the Study:

• To describe the high-resolution CT imaging findings of the temporal bones in a patient with Hajdu-Cheney Syndrome.
• To correlate imaging findings with clinical presentation of hearing loss in HCS.

Main Methods:

• Case report of a 36-year-old male with diagnosed Hajdu-Cheney Syndrome.
• High-resolution computed tomography (CT) of the temporal bones was performed.
• Imaging findings were analyzed for osseous demineralization and involvement of auditory structures.

Main Results:

• The CT scans demonstrated diffuse, relatively symmetric osseous demineralization of the temporal bones.
• Specific involvement of the ossicles and the otic capsule was observed.
• These findings were associated with the patient's longstanding bilateral conductive hearing loss.

Conclusions:

• This case highlights specific CT imaging findings in the temporal bones of a patient with Hajdu-Cheney Syndrome.
• Diffuse osseous demineralization involving the ossicles and otic capsule may contribute to hearing loss in HCS.
• Further imaging studies are warranted to confirm these findings in a larger cohort.