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Proteus Syndrome, a rare case with an unusual presentation: Case report
N Amer1, J Al Helal1, M Al Hajji1
1King Fahad Hospital of the University, Imam Abdulrahman Bin Faisal University, Saudi Arabia.
International Journal of Surgery Case Reports
|June 22, 2020
Summary
Proteus Syndrome is a rare condition characterized by overgrowth. This case highlights intestinal lipomatosis and bowel volvulus as potential complications, emphasizing the need for vigilance with macrodactyly.
Area of Science:
- Genetics
- Rare Diseases
- Surgical Case Reports
Background:
- Proteus Syndrome (PS) is an extremely rare congenital disorder, with approximately 200 cases documented globally.
- Diagnosis relies on Biescker's criteria, involving specific clinical findings or genetic confirmation via AKT1 gene variations.
Observation:
- A 45-year-old male presented with symptoms of chronic intestinal obstruction.
- Clinical examination revealed macrodactyly (enlarged right middle finger), a giant left forearm with an amputated hand, and significant abdominal distension.
Findings:
- The patient exhibited features consistent with Proteus Syndrome.
- Intestinal examination revealed extensive lipomatosis throughout the small intestine, a high-riding cecum, and a narrow, elongated mesentery.
- These intestinal anomalies contributed to the development of small bowel volvulus.
Implications:
- The case underscores that Proteus Syndrome should be suspected in patients presenting with macrodactyly.
- Early recognition is crucial as it may indicate the presence of other serious congenital anomalies, particularly gastrointestinal complications.
- This highlights the importance of a comprehensive diagnostic approach for rare genetic disorders.
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