MRI imaging findings in prune perineum syndrome: an extremely rare entity

Area of Science:

• Medical Case Reports
• Rare Diseases
• Radiology

Background:

• Prune perineum syndrome is an exceptionally rare congenital anomaly.
• Only four cases have been previously documented in medical literature.
• Understanding its presentation is crucial for diagnosis.

Observation:

• This report details a new case of prune perineum syndrome.
• Typical clinical and radiologic characteristics are described.
• A novel imaging finding, cystic dilatation of the terminal ventricle, is identified.

Findings:

• The case highlights the characteristic features of prune perineum syndrome.
• Cystic dilatation of the terminal ventricle is presented as a potential associated imaging finding.
• Differential diagnosis considerations are discussed.

Implications:

• This adds to the limited understanding of prune perineum syndrome.
• The newly identified imaging finding may aid in future diagnoses.
• Further research is warranted to elucidate the syndrome's etiology and spectrum.