Radiological findings in lipoid proteinosis

Area of Science:

• Radiology
• Otolaryngology
• Genetics

Background:

• Lipoid proteinosis is a rare genetic disorder.
• It affects various organs, including the larynx and brain.
• Radiological manifestations are not widely documented.

Purpose of the Study:

• To describe and discuss the radiological findings in patients with lipoid proteinosis.
• To correlate imaging findings with clinical presentation.

Main Methods:

• Retrospective review of radiological examinations in six patients diagnosed with lipoid proteinosis.
• Detailed analysis of laryngeal, cranial, chest, and gastrointestinal imaging.

Main Results:

• Laryngeal findings included thickened epiglottis, swollen arytenoids, and irregular vocal cords with increased stiffness.
• Two patients exhibited bean-shaped suprasellar calcifications without neurological symptoms.
• Chest and upper gastrointestinal imaging were unremarkable.

Conclusions:

• Radiological imaging, particularly of the larynx, can aid in diagnosing lipoid proteinosis.
• Suprasellar calcifications are an incidental finding in some cases.
• Further research is needed to fully understand the radiological spectrum of this disease.