GORLIN SYNDROME AND PRESENTATION WITH INTRAABDOMINAL CYSTS

Objectives: Introduction/Objective
Gorlin-Goltz syndrome is an X-linked dominant hereditary disorder with variable penetrance of symptoms typically characterized by cutaneous abnormalities, Etiology is typically secondary to a mutation in the PORCN gene which contributes to skin and bone development. The most concerning association with Gorlin Syndrome is development of aggressive basal cell carcinoma. Frequently odontogenic cysts and cutaneous cysts are described as sequela, however few cases of intraabdominal cysts have been described in Goltz-Gorlin syndrome.

Case Presentation

Patient is a 41-year-old female with medical history significant for Gorlin syndrome with prior basal cell nevi and odontogenic cysts, polycystic ovarian syndrome, and obesity status post robotic sleeve gastrectomy. She initially presented for epigastric abdominal pain and CT imaging was performed demonstrating multiple large cysts adjacent to the pancreas as well as a cystic mass within the rectus musculature. At the time of evaluation patient was reporting worsening ability to tolerate PO intake therefore was offered operative intervention.

Patient underwent exploratory laparotomy. A left sided abdominal wall lesion was encountered which was drained and yielded copious amounts of grey necrotic material. Two large mesenteric cystic masses were identified adjacent to the pancreas with a third cystic mass located in the left lower quadrant. Each cyst was aspirated, with aspirate contents significant for both serous and thick white fluid which was sent for analysis. Portions of the wall of these cystic masses were excised and lesions were completely evacuated. Postoperative course was unremarkable and patient was discharged on postoperative day 2.

Operative pathology resulted as benign fibroadipose tissue with chronic inflammation with fat necrosis for all cystic lesions. Fluid analysis was significant for elevated triglycerides, therefore diagnosis was confirmed as lymphomesenteric cysts. During follow up in clinic she reported marked improvement in tolerating PO intake without any further difficulty with anorexia.

Discussion/Conclusion

As discussed above, Gorlin Syndrome is a hereditary disorder with variable penetration and therefore varying presentations that frequently involve cutaneous abnormalities, odontogenic cysts, and skeletal abnormalities. Our particular patient manifested multiple of these symptoms in her clinical medical history however her multiple intraabdominal cysts are uncommon upon literature review of patients presenting with this disease. There are only remote cases of symptomatic chylous mesenteric cysts in this patient population. Given the variable presentation of this genetic disorder and propensity for cystic pathology, the suspicion in this case is that our patient demonstrated a variable presentation of Gorlin Syndrome with multiple mesenteric-based cysts.

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