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Extensive preoperative workup in diffuse esophageal leiomyomatosis associated with Alport syndrome influences surgical treatment: A case report.

Dagbert F, Pelascini E, Pasquer A, Gincul R, Mion F, Poncet G, Robert M - Int J Surg Case Rep (2015)

Bottom Line: Misdiagnosis is frequent and previous surgeries can complicate surgical management.We describe a case of diffuse esophageal leiomyomatosis associated with Alport syndrome in a 21 year-old female where endoscopic ultrasonography (EUS) with concomitant fluoroscopy and 3D-gastric computed tomography (3D-GCT) modified surgical management.EUS and 3D-GCT should strongly be considered as part of routine preoperative workup in these patients.

View Article: PubMed Central - PubMed

Affiliation: Service de Chirurgie Digestive, Hôpital Edouard-Herriot, Lyon, France. Electronic address: francois.dagbert@umontreal.ca.

No MeSH data available.


Related in: MedlinePlus

Preoperative coronal CT-scan showing enlargement of mid and lower esophageal body.
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fig0005: Preoperative coronal CT-scan showing enlargement of mid and lower esophageal body.

Mentions: With progression of painful dysphagia and weight loss, radiological examination was performed and showed a lower esophageal nodular thickening reaching 8 cm at the GEJ with dilation of the esophagus as well as circular thickening of the entire esophageal length. Pelvic MRI showed a hypertrophic rectal muscularis and an internal anal sphincter of 16 mm of thickness with a dilated proximal colon. Genetic testing confirmed deletion of COL4A5/COL4A6 gene. The diagnosis of diffuse leiomyomatosis associated with an Alport syndrome was made with extensive involvement of the esophagus, rectum and clitoris Fig. 1.


Extensive preoperative workup in diffuse esophageal leiomyomatosis associated with Alport syndrome influences surgical treatment: A case report.

Dagbert F, Pelascini E, Pasquer A, Gincul R, Mion F, Poncet G, Robert M - Int J Surg Case Rep (2015)

Preoperative coronal CT-scan showing enlargement of mid and lower esophageal body.
© Copyright Policy - CC BY-NC-ND
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4430222&req=5

fig0005: Preoperative coronal CT-scan showing enlargement of mid and lower esophageal body.
Mentions: With progression of painful dysphagia and weight loss, radiological examination was performed and showed a lower esophageal nodular thickening reaching 8 cm at the GEJ with dilation of the esophagus as well as circular thickening of the entire esophageal length. Pelvic MRI showed a hypertrophic rectal muscularis and an internal anal sphincter of 16 mm of thickness with a dilated proximal colon. Genetic testing confirmed deletion of COL4A5/COL4A6 gene. The diagnosis of diffuse leiomyomatosis associated with an Alport syndrome was made with extensive involvement of the esophagus, rectum and clitoris Fig. 1.

Bottom Line: Misdiagnosis is frequent and previous surgeries can complicate surgical management.We describe a case of diffuse esophageal leiomyomatosis associated with Alport syndrome in a 21 year-old female where endoscopic ultrasonography (EUS) with concomitant fluoroscopy and 3D-gastric computed tomography (3D-GCT) modified surgical management.EUS and 3D-GCT should strongly be considered as part of routine preoperative workup in these patients.

View Article: PubMed Central - PubMed

Affiliation: Service de Chirurgie Digestive, Hôpital Edouard-Herriot, Lyon, France. Electronic address: francois.dagbert@umontreal.ca.

No MeSH data available.


Related in: MedlinePlus