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
BACKGROUND
Esophageal leiomyomatosis is a rare condition, with
only 15 similar cases having been described in literature
to date [1–6]. There is characteristic proliferation of
smooth muscle cells in the esophageal wall causing local-
ized circumferential thickening. It may be hereditary or
sporadic. It has been associated with patients with the
hereditary disease Alport’s Syndrome (deafness, cata-
racts, hematuria) [1,2,5,6]. Most cases are seen in
females, 10–30 years of age, although presentations at
younger ages have also been described [3].
We report a case of a 29-year-old woman with esophageal
leiomyomatosis whose presentation was not typical and
was treated effectively with enucleation of the tumor.
CASE REPORT
A 29-year-old woman presented with a five-year history of
gastroesophageal reflux (GERD) complaining of heart-
burn and occasional dysphagia. The only relevant past
medical history was an admission to hospital soon after
birth for upper gastrointestinal bleeding that was treated
conservatively. About 18 years ago, her brother was oper-
ated on for leiomyoma in the distal esophagus, presenting
as an elongating, spiral, obstructing tumor of the esopha-
gus. Her physical examination was normal. All biochemi-
cal and hematological investigations were normal.
The upper gastrointestinal series (UGIS) (Figure 1A)
revealed a 7-cm segment of tortuous, circumferential
narrowing of the distal esophagus with intact mucosa
extending to the gastro-esophageal junction. There was
mild esophageal dilatation above the lesion and the gas-
tric cardia appeared normal. An abnormal ultrasound
showed a homogenous, hypoechoic 7-cm solid mass
with central hyperechogenicity corresponding to
mucosa at the level of the esophageal hiatus. An endo-
scopic US was not performed and therefore the superi-
or extent of the lesion could not be assessed.
Computerized tomography (CT) of the chest and upper
abdomen confirmed a smooth, well-defined 7-cm mass
of uniform low attenuation that encircled the distal
esophagus and did not show enhancement with intra-
venous (IV) contrast. Magnetic resonance imaging
(MRI) of the thorax (Figure 1B) showed a circumferen-
tial lesion in the wall of the distal esophagus that was
isointense relative to chest wall muscle on T1 and
hypointense on T2 weighted images without foci of
enhancement after administration of Gadolinium.
Intact, normally enhancing mucosa was visible within
the lesion and elongation of the esophagus could be
appreciated on MRI. Surgical treatment was recom-
mended, either enucleation or esophagectomy. Intra-
operative fiberoptic esophagogastroscopy revealed
extrinsic compression of the esophagus with marked
distortion of the esophageal lumen extending from 32
cm to 40 cm from the incisors. The mucosa of the
esophagus and stomach were normal. Through a left
thoracotomy, a 7 cm tumor encircling the lower third of
the esophagus anterior to the descending thoracic aorta
Misra M et al – Esophageal Leiomyomatosis
was found. At the upper border of the tumor, the
esophagus felt thickened with a diameter of 4 cm, con-
sistent with hypertrophy of the longitudinal and circular
muscles. The muscle layers of the stomach on the lesser
curvature were also involved for about 5 cm. The vagus
nerves were intact. The intramural submucosal tumor
was enucleated without breaching the mucosa. Frozen
section analysis of the tumor ruled out sarcomatous
change. After the tumor was excised, the esophagus was
denuded down to the mucosa for 7 cm, except for a
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
esophageal hiatus was then closed using 3 horizontal
mattress pledgeted 1–0 silk sutures.
The initial postoperative course was uneventful except
for prolonged lung parenchymal air leak. She was read-
mitted 1 week after discharge with fever, chills, and
malaise due to localized empyema. Esophageal perfora-
tion was ruled out with a contrast study. The pleural
fluid contained heavy growth of viridens group Strepto-
coccus, Nisseria species, Micrococcus species, Lactobacillus
species, and mixed anaerobic organisms. The patient
responded well to tube thoracostomy drainage and a
prolonged course of intravenous antibiotics. One week
after admission, the patient developed Clostridium diffi-
cile colitis and was treated with a two-week course of oral
vancomycin. The rest of her post-operative course was
otherwise unremarkable. At 2 year follow-up she is
symptom free and no signs of recurrence.
Gross pathologic examination of the esophageal and
gastric specimen revealed an irregularly shaped multi-
lobulated whorled white-tan mass, with attached
fibromembranous tissue (see Figure 2A). Microsco-
pically there were nodular masses of smooth muscle
cells that appeared larger than normal with enlarged,
somewhat irregular nuclei (see Figure 2B). There was
no hypercellularity, necrosis or significant mitotic activi-
ty. A final diagnosis of an esophageal leiomyomatosis
was made due to the characteristic gross appearance of
multiple nodular areas of thickening and circumferen-
tial involvement of the esophagus. The resection mar-
gins were clear.
DISCUSSION
Esophageal leiomyomatosis is rare. Due to the rarity of
this condition, only 15 similar cases have been described
in literature to date [1–6]. There is characteristic prolif-
eration of smooth muscle cells in the esophageal wall
causing localized circumferential thickening. It may be
hereditary or sporadic. It has been associated with
patients with the hereditary disease Alport’s Syndrome
(deafness, cataracts, hematuria) [1,2,5,6]. Most cases are
seen in females, 10–30 years of age, although presenta-
tions at younger ages have also been described [3]. On
occasion, vulvar leiomyomatosis has been linked to
esophageal leiomyomatosis. Although this patient had
no history of vulvar leiomyomatosis or Alport’s syn-
drome, her brother had had a similar lesion removed
18 years previously.
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Case Study
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 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
arrow). The mucosa enhances showing elongation and dis-
placement of the lumen that is encased by the mass (white
arrow).
Esophageal leiomyoma differs from the rare condition of
esophageal leiomyomatosis in that it is usually well
defined and sessile consisting of benign whorls of smooth
muscle with a fibrous tissue capsule. The tumor is usually
small, solitary, eccentric in position, firm, rounded and
easily shelled out. In esophageal leiomyomatosis the
esophagus becomes thickened and narrowed due to the
diffuse hyperplasia of the muscularis propria and muscu-
laris mucosae. The cardia of the stomach is often
involved. Occasionally, a long segment will be involved
due to elongation and spiraling as well as the circumfer-
ential growth, as was the finding in our patient. Eso-
phageal leiomyoma is usually very slow growing and
therefore often asymptomatic unless greater than 5 cm in
diameter. These large tumors can cause dysphagia, vague
retrosternal distress, odynaphagia, postprandial vomiting
or dyspepsia are the usual presenting symptoms [1,5,7].
In our patient with esophageal leiomyomatosis, the pre-
senting complaint was heartburn, and distal esophageal
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Med Sci Monit, 2003; 9(11): CS98-101
Figure 2A. Cross section through the esophageal wall demonstrating
multiple nodular solid masses.
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).
narrowing was only found when upper GI endoscopy was
performed for suspected GERD. Although most reported
cases for this disease are anecdotal, the findings of smooth
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
narrowed segment is usually longer than is typically seen
in achalasia and sometimes a smooth mass effect is seen on
the supero-medial aspect of the gastric fundus due to the
bulging tumour mass. Dilation of the proximal lumen and
stenosis at the lower end has also been documented [1],
emphasizing the fact that there are no characteristic find-
ings on UGIS to confirm the diagnosis.
CT was useful in demonstrating the size and location of
the tumor mass suggesting the possibility of esophageal
leiomyomatosis. A thickened distal esophageal wall has
been described in previous case reports as a very useful
finding on CT for diagnosis of esophageal leiomyomato-
sis [3]. To our knowledge, MRI findings have not been
previously described in esophageal leiomyomatosis.
MRI has the advantage of greater soft tissue contrast
differentiation and multi-planar image acquisition and
display over CT. Benign smooth muscle tumours typi-
cally show uniform isointensity on T1 and hypointensity
on T2 weighted sequences and lack enhancement with
Med Sci Monit, 2003; 9(11): CS98-101
intravenous gadolinium that is often a feature of leiomy-
osarcoma. This tissue characterization with MRI strong-
ly suggested the correct diagnosis in our patient. Fur-
thermore, the tortuosity and elongation of the esopha-
gus was only appreciated from the gadolinium-enhan-
ced images and is an important observation for making
the diagnosis.
Surgical removal is the recommended treatment of
esophageal leiomyomatosis. The treatment requires
esophagectomy and reconstruction with either gastric
conduit or colon interposition [8]. Enucleation with reap-
proximation has been thought to be difficult in these
cases. In Esophageal Surgery ‘95, Shamji and Todd rec-
ommended that esophageal resection with reconstruction
be the treatment of choice under the following circum-
stances: 1) an occasional giant extramural leiomyoma that
not only obstructs the esophagus but also produces com-
pression of the neighboring organs in the mediastinum
and pleural cavities and cannot be enucleated; 2) a large
leiomyoma that completely surrounds the esophagus,
usually at the gastroesophageal junction, constricting it
with possible superficial ulceration, and resection is nec-
essary to rule out malignancy; 3) a mucosa that is so badly
damaged during enucleation of a leiomyoma that satisfac-
tory repair is not possible; 4) a large leiomyoma in the
distal esophagus that extends across the cardia and onto
the stomach, possibly causing superficial ulceration and
making enucleation difficult; and 5) a leiomyosarcoma
that is suspected and confirmed on frozen section [9].
Although two of these five indications, (the 2nd and 4th),
supported total esophagectomy in this patient’s case, the
patient was able to avoid a total esophagectomy for the
treatment of her condition.
CONCLUSIONS
Although the presentation and findings were not exactly
as previously described, there were some similarities
Misra M et al – Esophageal Leiomyomatosis
ultimately leading to the diagnosis of esophageal
leiomyomatosis. CT was useful in demonstrating a cir-
cumferential mass in the wall of the distal esophagus.
However, ultimately MRI provided unique information
be demonstrating the elongation of the esophagus with-
in the lesion and by further characterizing it as a
smooth muscle tumour with benign features. Intrao-
perative frozen section analysis of the specimen is neces-
sary in order to rule out sarcomatous changes in which
case an immediate esophagectomy is required. It is
important to note that enucleation is possible for this
disease but there exists a risk of postoperative GERD CS
because of damage to the LES and lack of peristalsis in
the lower esophagus at the site of enucleation.
REFERENCES:
1. Guillem P, Delcambre F, Cohen-Solal L et al: Diffuse esophageal
leiomyomatosis with perirectal involvement mimicking
Hirschsprung disease. Gastroenterology, 2001; 120: 216-20
2. Kumar P, Breach NM, Goldstraw P: Esophageal leiomyomatosis
involving trachea: Surgical resection and repair. Ann Thorac Surg
1997; 63: 531-3
3. Levine MS, Buck JL, Pantongrag-Brown L et al: Esophageal
leiomyomatosis. Radiology, 1996; 199: 533-6
4. Marshall JB, Diaz-Arias AA, Bochna GS et al: Achalasia due to dif-
fuse esophageal leiomyomatosis and inherited as an autosomal
dominant disorder. Gastroenterology, 1990; 98: 1358-65
5. Rabushka LS, Fishman EK, Kuhlman JE et al: Diffuse esophageal
leiomyomatosis in a patient with Alport syndrome: CT demonstra-
tion. Radiology, 1991; 179: 176-8
6. Rosen RM: Familial multiple upper gastrointestinal leiomyoma. Am
J Gastroenterol, 1990; 85: 303-5
7. Orringer MB: Esophageal tumors. In: Cameron JL: Current
Surgical Therapy. Ed. 6. St. Louis, Missouri: Mosby Inc, 1998: 58-62
8. Shamji F, Todd TRJ: Benign tumors. In: Pearson FG, Deslauriers
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
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