Signature: Med Sci Monit, 2003; 9(11): CS98-101 WWW.MEDSCI MONIT.

COM
PMID: 14586279 Case Study

Received: 2003.02.06
Accepted: 2003.09.03 Esophageal leiomyomatosis
Published: 2003.11.03

Monali Misra1, Donna E. Maziak1, Farid M. Shamji1, Claudine Michaud2,

D. Garth Perkins3, Frederick Matzinger2
1
Division of Thoracic Surgery, University of Ottawa, Ottawa Hospital Civic Campus, Ottawa, Ontario, Canada
2
Division of Diagnostic Imaging, University of Ottawa, Ottawa Hospital Civic Campus, Ottawa, Ontario, Canada
3
Division of Pathology, University of Ottawa, Ottawa Hospital Civic Campus, Ottawa, Ontario, Canada

Summary
Background: Esophageal leiomyomatosis is rare with an incidence that is essentially unknown with only a
few reported cases. Characteristically there is proliferation of smooth muscle cells in the
esophageal wall causing localized circumferential thickening. Esophageal leiomyomas are usu-
ally very slow growing and often asymptomatic. Symptomatic tumors are usually greater than
five centimeters in diameter. The accepted treatment for esophageal leiomyomatosis ihas been
surgical removal, which frequently requires esophagectomy with reconstruction.
Case report: We report a case of a 29-year-old woman with esophageal leiomyomatosis whose presentation
was not typical and magnetic resonance imaging proved diagnostic. This patient was effective-
ly with enucleation of the tumor.
Conclusions: Recommended treatment for this condition has been total esophagectomy with reconstruc-
tion, but we report a case treated with enucleation of the tumor.

key words: esophageal leiomyomatosis • benign esophageal tumors

Full-text PDF: http://www.MedSciMonit.com/pub/vol_9/no_11/3464.pdf

Word count: 1593
Tables: —
Figures: 2
References: 9

Author’s address: Dr. Donna E. Maziak, Ottawa Hospital – General Campus, 501 Smyth Road 6NW-6354, Ottawa, Ontario,
Canada K1H 8L6, email: dmaziak@ohri.ca

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Med Sci Monit, 2003; 9(11): CS98-101 Misra M et al – Esophageal Leiomyomatosis

BACKGROUND was found. At the upper border of the tumor, the

esophagus felt thickened with a diameter of 4 cm, con-
Esophageal leiomyomatosis is a rare condition, with sistent with hypertrophy of the longitudinal and circular
only 15 similar cases having been described in literature muscles. The muscle layers of the stomach on the lesser
to date [1–6]. There is characteristic proliferation of curvature were also involved for about 5 cm. The vagus
smooth muscle cells in the esophageal wall causing local- nerves were intact. The intramural submucosal tumor
ized circumferential thickening. It may be hereditary or was enucleated without breaching the mucosa. Frozen
sporadic. It has been associated with patients with the section analysis of the tumor ruled out sarcomatous
hereditary disease Alport’s Syndrome (deafness, cata- change. After the tumor was excised, the esophagus was
racts, hematuria) [1,2,5,6]. Most cases are seen in denuded down to the mucosa for 7 cm, except for a
females, 10–30 years of age, although presentations at
younger ages have also been described [3].
small strip of esophageal muscle measuring 1 cm in
width along this 7 cm segment. The mucosal tube was CS
reinforced with a wide parietal pleural flap. The
We report a case of a 29-year-old woman with esophageal esophageal hiatus was then closed using 3 horizontal
leiomyomatosis whose presentation was not typical and mattress pledgeted 1–0 silk sutures.
was treated effectively with enucleation of the tumor.
The initial postoperative course was uneventful except
CASE REPORT for prolonged lung parenchymal air leak. She was read-
mitted 1 week after discharge with fever, chills, and
A 29-year-old woman presented with a five-year history of malaise due to localized empyema. Esophageal perfora-
gastroesophageal reflux (GERD) complaining of heart- tion was ruled out with a contrast study. The pleural
burn and occasional dysphagia. The only relevant past fluid contained heavy growth of viridens group Strepto-
medical history was an admission to hospital soon after coccus, Nisseria species, Micrococcus species, Lactobacillus
birth for upper gastrointestinal bleeding that was treated species, and mixed anaerobic organisms. The patient
conservatively. About 18 years ago, her brother was oper- responded well to tube thoracostomy drainage and a
ated on for leiomyoma in the distal esophagus, presenting prolonged course of intravenous antibiotics. One week
as an elongating, spiral, obstructing tumor of the esopha- after admission, the patient developed Clostridium diffi-
gus. Her physical examination was normal. All biochemi- cile colitis and was treated with a two-week course of oral
cal and hematological investigations were normal. vancomycin. The rest of her post-operative course was
otherwise unremarkable. At 2 year follow-up she is
The upper gastrointestinal series (UGIS) (Figure 1A) symptom free and no signs of recurrence.
revealed a 7-cm segment of tortuous, circumferential
narrowing of the distal esophagus with intact mucosa Gross pathologic examination of the esophageal and
extending to the gastro-esophageal junction. There was gastric specimen revealed an irregularly shaped multi-
mild esophageal dilatation above the lesion and the gas- lobulated whorled white-tan mass, with attached
tric cardia appeared normal. An abnormal ultrasound fibromembranous tissue (see Figure 2A). Microsco-
showed a homogenous, hypoechoic 7-cm solid mass pically there were nodular masses of smooth muscle
with central hyperechogenicity corresponding to cells that appeared larger than normal with enlarged,
mucosa at the level of the esophageal hiatus. An endo- somewhat irregular nuclei (see Figure 2B). There was
scopic US was not performed and therefore the superi- no hypercellularity, necrosis or significant mitotic activi-
or extent of the lesion could not be assessed. ty. A final diagnosis of an esophageal leiomyomatosis
was made due to the characteristic gross appearance of
Computerized tomography (CT) of the chest and upper multiple nodular areas of thickening and circumferen-
abdomen confirmed a smooth, well-defined 7-cm mass tial involvement of the esophagus. The resection mar-
of uniform low attenuation that encircled the distal gins were clear.
esophagus and did not show enhancement with intra-
venous (IV) contrast. Magnetic resonance imaging DISCUSSION
(MRI) of the thorax (Figure 1B) showed a circumferen-
tial lesion in the wall of the distal esophagus that was Esophageal leiomyomatosis is rare. Due to the rarity of
isointense relative to chest wall muscle on T1 and this condition, only 15 similar cases have been described
hypointense on T2 weighted images without foci of in literature to date [1–6]. There is characteristic prolif-
enhancement after administration of Gadolinium. eration of smooth muscle cells in the esophageal wall
Intact, normally enhancing mucosa was visible within causing localized circumferential thickening. It may be
the lesion and elongation of the esophagus could be hereditary or sporadic. It has been associated with
appreciated on MRI. Surgical treatment was recom- patients with the hereditary disease Alport’s Syndrome
mended, either enucleation or esophagectomy. Intra- (deafness, cataracts, hematuria) [1,2,5,6]. Most cases are
operative fiberoptic esophagogastroscopy revealed seen in females, 10–30 years of age, although presenta-
extrinsic compression of the esophagus with marked tions at younger ages have also been described [3]. On
distortion of the esophageal lumen extending from 32 occasion, vulvar leiomyomatosis has been linked to
cm to 40 cm from the incisors. The mucosa of the esophageal leiomyomatosis. Although this patient had
esophagus and stomach were normal. Through a left no history of vulvar leiomyomatosis or Alport’s syn-
thoracotomy, a 7 cm tumor encircling the lower third of drome, her brother had had a similar lesion removed
the esophagus anterior to the descending thoracic aorta 18 years previously.

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Case Study Med Sci Monit, 2003; 9(11): CS98-101

Figure 2A. Cross section through the esophageal wall demonstrating

multiple nodular solid masses.

Figure 1A. UGIS showing a ‘corkscrew’ appearance of the distal esoph-

agus due to its encasement by a mass. The mucosa is dis-
torted but intact, with no ulceration. The fundus is normal.

Figure 2B. Microscopic section showing bands of smooth muscle

cells with spindle shaped slightly hyperchromatic nuclei.
The cytoplasm has prominent vacuoles. Note the absence
of hypercellularity, mitotic activity or significant pleomor-
phism. (Hematoxylin-phloxine-saffron stain, original magni-
fication ×100).
Figure 1B. Gadolinium enhanced T1 weighted MRI axial image with fat
suppression at the level of the tumour showing a homoge-
neous, hypointense, non-enhancing tumour mass (striped narrowing was only found when upper GI endoscopy was
arrow). The mucosa enhances showing elongation and dis- performed for suspected GERD. Although most reported
placement of the lumen that is encased by the mass (white cases for this disease are anecdotal, the findings of smooth
arrow). narrow tapering of the distal esophagus with decreased or
absent peristalsis have been noted [3]. This may result in
an erroneous diagnosis of achalasia [4]. The length of the
Esophageal leiomyoma differs from the rare condition of narrowed segment is usually longer than is typically seen
esophageal leiomyomatosis in that it is usually well in achalasia and sometimes a smooth mass effect is seen on
defined and sessile consisting of benign whorls of smooth the supero-medial aspect of the gastric fundus due to the
muscle with a fibrous tissue capsule. The tumor is usually bulging tumour mass. Dilation of the proximal lumen and
small, solitary, eccentric in position, firm, rounded and stenosis at the lower end has also been documented [1],
easily shelled out. In esophageal leiomyomatosis the emphasizing the fact that there are no characteristic find-
esophagus becomes thickened and narrowed due to the ings on UGIS to confirm the diagnosis.
diffuse hyperplasia of the muscularis propria and muscu-
laris mucosae. The cardia of the stomach is often CT was useful in demonstrating the size and location of
involved. Occasionally, a long segment will be involved the tumor mass suggesting the possibility of esophageal
due to elongation and spiraling as well as the circumfer- leiomyomatosis. A thickened distal esophageal wall has
ential growth, as was the finding in our patient. Eso- been described in previous case reports as a very useful
phageal leiomyoma is usually very slow growing and finding on CT for diagnosis of esophageal leiomyomato-
therefore often asymptomatic unless greater than 5 cm in sis [3]. To our knowledge, MRI findings have not been
diameter. These large tumors can cause dysphagia, vague previously described in esophageal leiomyomatosis.
retrosternal distress, odynaphagia, postprandial vomiting MRI has the advantage of greater soft tissue contrast
or dyspepsia are the usual presenting symptoms [1,5,7]. differentiation and multi-planar image acquisition and
display over CT. Benign smooth muscle tumours typi-
In our patient with esophageal leiomyomatosis, the pre- cally show uniform isointensity on T1 and hypointensity
senting complaint was heartburn, and distal esophageal on T2 weighted sequences and lack enhancement with

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Med Sci Monit, 2003; 9(11): CS98-101 Misra M et al – Esophageal Leiomyomatosis

intravenous gadolinium that is often a feature of leiomy- ultimately leading to the diagnosis of esophageal
osarcoma. This tissue characterization with MRI strong- leiomyomatosis. CT was useful in demonstrating a cir-
ly suggested the correct diagnosis in our patient. Fur- cumferential mass in the wall of the distal esophagus.
thermore, the tortuosity and elongation of the esopha- However, ultimately MRI provided unique information
gus was only appreciated from the gadolinium-enhan- be demonstrating the elongation of the esophagus with-
ced images and is an important observation for making in the lesion and by further characterizing it as a
the diagnosis. smooth muscle tumour with benign features. Intrao-
perative frozen section analysis of the specimen is neces-
Surgical removal is the recommended treatment of sary in order to rule out sarcomatous changes in which
esophageal leiomyomatosis. The treatment requires case an immediate esophagectomy is required. It is
esophagectomy and reconstruction with either gastric
conduit or colon interposition [8]. Enucleation with reap-
important to note that enucleation is possible for this
disease but there exists a risk of postoperative GERD CS
proximation has been thought to be difficult in these because of damage to the LES and lack of peristalsis in
cases. In Esophageal Surgery ‘95, Shamji and Todd rec- the lower esophagus at the site of enucleation.
ommended that esophageal resection with reconstruction
be the treatment of choice under the following circum- REFERENCES:
stances: 1) an occasional giant extramural leiomyoma that
not only obstructs the esophagus but also produces com- 1. Guillem P, Delcambre F, Cohen-Solal L et al: Diffuse esophageal
pression of the neighboring organs in the mediastinum leiomyomatosis with perirectal involvement mimicking
Hirschsprung disease. Gastroenterology, 2001; 120: 216-20
and pleural cavities and cannot be enucleated; 2) a large
2. Kumar P, Breach NM, Goldstraw P: Esophageal leiomyomatosis
leiomyoma that completely surrounds the esophagus, involving trachea: Surgical resection and repair. Ann Thorac Surg
usually at the gastroesophageal junction, constricting it 1997; 63: 531-3
with possible superficial ulceration, and resection is nec- 3. Levine MS, Buck JL, Pantongrag-Brown L et al: Esophageal
essary to rule out malignancy; 3) a mucosa that is so badly leiomyomatosis. Radiology, 1996; 199: 533-6
damaged during enucleation of a leiomyoma that satisfac- 4. Marshall JB, Diaz-Arias AA, Bochna GS et al: Achalasia due to dif-
tory repair is not possible; 4) a large leiomyoma in the fuse esophageal leiomyomatosis and inherited as an autosomal
dominant disorder. Gastroenterology, 1990; 98: 1358-65
distal esophagus that extends across the cardia and onto
5. Rabushka LS, Fishman EK, Kuhlman JE et al: Diffuse esophageal
the stomach, possibly causing superficial ulceration and leiomyomatosis in a patient with Alport syndrome: CT demonstra-
making enucleation difficult; and 5) a leiomyosarcoma tion. Radiology, 1991; 179: 176-8
that is suspected and confirmed on frozen section [9]. 6. Rosen RM: Familial multiple upper gastrointestinal leiomyoma. Am
Although two of these five indications, (the 2nd and 4th), J Gastroenterol, 1990; 85: 303-5
supported total esophagectomy in this patient’s case, the 7. Orringer MB: Esophageal tumors. In: Cameron JL: Current
Surgical Therapy. Ed. 6. St. Louis, Missouri: Mosby Inc, 1998: 58-62
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treatment of her condition. J, Ginsberg RJ, Hiebert CA, McKneally MF, Urschel HC (eds.):
Esophageal Surgery. New York: Churchill Livingstone Inc, 1995:
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9. Murray GF, Gustafson: Benign tumors, cysts, and duplications of
Although the presentation and findings were not exactly the esophagus. In: Shields TW (ed.): General Thoracic Surgery.
Ed. 4. Media, PA: Williams and Wilkins, 1994: 1622-6
as previously described, there were some similarities

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