Presentation
Chronic dysphagia, vomiting and chronic constipation.
Patient Data
Diffuse esophageal circumferential mural thickening mounting to large mass formation at the gastroesophageal junction significantly encroaching upon its lumen.
Diffuse circumferential mural thickening of the anal canal with subsequent marked dilatation of the rectum and stercoral stasis.
Circumferential mural thickening of the urethra extending to the down and involving the vulva.
The anal canal shows diffuse circumferential mural thickening of low signal typical for leiomyoma, with subsequent rectal dilatation.
Urethral mural thickening extending down to the vulva.
The vagina is elongated and compressed between the anal canal and urethral thickening.
The uterus shows pedunculated fibroid protruding into the cervical canal.
On defecography series, there's rectocele and failure of opening of the anal canal and failure of evacuation.
Upper endoscopy revealed marked proximal oesophagal dilatation and retained fluid with marked narrowing at the cardia and difficulty in scope passage through it.
Esophageal endosonography showed long segment of diffuse esophageal wall thickening forming mass lesion at the cardia, EUS-FNB was done.
Anorectal endosonography showed diffuse concentric hypoechoic wall thickening with loss of wall layering pattern, similar to the oesophagal lesion. EUS-FNB was done.
Nature of Specimen: EUS-FNB
Gross appearance:
1-Esophagus: Unstained films and hemorrhagic material entangling tissue fragments, submitted for cellblock preparation.
2-Anal canal: Unstained films and hemorrhagic material entangling tissue fragments, submitted for cellblock preparation.
Microscopic features:
Sections examined from both cellblocks prepared from esophageal and anal aspirates revealed blood clots entangling fragments of tumor tissue formed bundles of spindle cells having oval blunt-ended nuclei, with moderate amount of eosinophilic cytoplasm.
Cytologic examination of the films received revealed hypocellular films showing inflammatory cells and scattered small bundles of spindle cells.
No mitotic activity. No tumoral necrosis.
Diagnosis: Bland spindle cell proliferation, mainly of smooth muscle nature (hypertrophy/leiomyomas).
Case Discussion
Regarding the patient's care, a multidisciplinary consultation involving gastroenterologists and gastrointestinal surgeons was carried out. The patient is scheduled for esophagectomy.
Esophageal leiomyomatosis is a rare hamartomatous disorder. It predominantly affects children and young adults with female predilection. It may occur in isolation or in association with Alport's syndrome and visceral leiomyomatosis. This patient didn't have any other complications of the ocular, hearing or renal systems excluding Alport syndrome. However, esophageal-vulvar syndrome is a possibility, which is characterized by leiomyomata of both the esophagus and female genital system, and often occurs in young adult females.
Esophageal and anorectal leiomyomatosis association is exceedingly rare. It's characterized by benign smooth muscle cell proliferation in the esophageal and anorectal walls, respectively.
Leiomyomatosis mainly affects the middle and distal one-third of the esophagus. It may extend into the cardia and fundus of the stomach in approximately 80% of cases. The entire esophagus is involved in only 35% of cases 1.
Management depends on clinical symptoms:
asymptomatic patients: clinical and endoscopic follow-up is satisfactory
patients with severe and progressive dysphagia should undergo total esophagectomy, with the use of gastric or colonic conduit 1
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