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Proteus syndrome: craniofacial and cerebral MRI
D R DeLone1, W D Brown, L R Gentry
1Department of Radiology, University of Wisconsin Hospital and Clinics, 600 Highland Avenue, Madison, WI 53792-3252, USA.
Neuroradiology
|December 22, 1999
Summary
Proteus syndrome, a rare hamartoneoplastic disorder, can impact the brain, skull, and head/neck. This case highlights severe findings, including brain abnormalities and facial disfigurement, emphasizing potential airway compromise.
Area of Science:
- Medical Genetics
- Dermatology
- Neurology
Background:
- Proteus syndrome is a rare, complex hamartoneoplastic disorder.
- It is characterized by progressive, segmental overgrowth affecting various tissues.
Observation:
- Presents a case with severe, characteristic Proteus syndrome findings.
- Observed brain abnormalities including hemimegalencephaly and migrational disorders.
- Noted maxillary and mandibular dysmorphism with unilateral condylar hyperplasia.
Findings:
- Subcutaneous masses (fatty, fibrous, lymphangiomatous) involved the neck and face.
- Facial and neck involvement led to significant disfigurement.
- Potential for airway compromise due to head and neck masses.
Implications:
- Highlights the varied and severe manifestations of Proteus syndrome.
- Underscores the importance of recognizing potential neurological and airway complications.
- Emphasizes the need for multidisciplinary management in affected individuals.