Introduction

Diffuse esophageal leiomyomatosis is a rare musculardisorder of the esophagus. Diagnosis is often difficult,and because the condition may be associated with lei-omyomatosis in other locations or with other disorders,its search requires the most up-to-date imaging tech-niques.

Over the past 4 years we observed two cases of dif-fuse esophageal leiomyomatosis, one with associatedtracheobronchial involvement.

Case reports

Case 1

A 47-year-old man presented with dysphagia to solids ofseveral years duration which had more recently led tomoderate deterioration of his general condition. Hehad never undergone surgery but had presented sponta-neous pneumothorax 3 years previously. Chest radio-

graph showed a mediastinal mass in the posterior medi-astinum, firstly related to lymph nodes. A CT scan ofthe thorax and abdomen showed subcarinal lymphaden-opathy displacing the esophagus and a posterior medias-tinal opacity the lymph node or esophageal origin ofwhich was difficult to affirm. At the abdominal levelhepatosplenomegaly was observed associated withpara-aortic lymph nodes. Barium study showed extrinsicesophageal compression extending from the aortic archto within 3 cm of the cardia (Fig. 1). This was confirmedby upper gastrointestinal endoscopy which showed noassociated mucosal lesion.

Mediastinoscopy was performed and revealed a me-diastinal lesion of lymph node appearance. Histopatho-logic examination showed a proliferation of entwinedsmooth muscle fibers separated by fibrous tissue sug-gesting a smooth muscle tumor without malignant fea-tures. During surgery (total esophagectomy) an impor-tant tumor of the thoracic esophagus was resected, in-volving the middle and lower third but leaving the car-dia intact. Definitive resected gross specimen (Fig.2)and histologic examination of the resected specimenshowed diffuse esophageal leiomyomatosis with no sus-picion of malignancy.

Three years later, the patient underwent a thoracicCT scan for another episode of spontaneous pneu-mothorax. Multiple intraparenchymal nodules were re-vealed (Fig. 3). Because of the previous history ofesophageal leiomyomatosis, transparietal aspiration bi-opsy of one of the lung nodules was performed. Histo-pathologic investigation was in favor of multiple bron-chial leiomyomas with no evidence of malignancy.

Case 2

A 38-year-old man underwent routine chest radiograph.A posterior mediastinal opacity was revealed (Fig.4)and lymphadenopathy was initially suspected. A CT

Eur. Radiol. 10, 134±138 (2000) Ó Springer-Verlag 2000

EuropeanRadiology

Case report

Imaging of diffuse esophageal leiomyomatosis:two case reports and review of the literatureN. Sans1, D.Galy-Fourcade1, E.Bloom2, B.Prad�re2, H. Chiavassa1, T.Jarlaud1, M. Queralto2, J.Giron1, J.-L. Gouzi2,J.-J. Railhac1

1 Department of Medical Imaging, Service Central d'Imagerie MØdicale, Centre Hospitalier Universitaire Purpan, F-31059 ToulouseCedex, France

2 Department of Abdominal Surgery, Service Central d'Imagerie MØdicale, Centre Hospitalier Universitaire Purpan, F-31059 ToulouseCedex, France

Received: 24 December 1998; Revised: 10 May 1999; Accepted: 10 May 1999

Abstract. Diffuse esophageal leiomyomatosis is arare disorder which may be found in association withleiomyomas in other locations or with other disor-ders. We report two cases in men, one with associatedtracheobronchial involvement, which illustrate thevalue of imaging in differentiating this entity fromother causes of dysphagia and in establishing a diag-nosis.

Key words: Esophagus ± Leiomyomatosis ± MR im-aging ± CT

Correspondence to: N. Sans

scan demonstrated a tissular mass involving the lowerthird of the esophagus and ruled out posterior mediasti-nal lymphadenopathy (Fig.5). Barium study showedmany stenotic areas without change in the mucosalfolds. Esophageal endoscopy confirmed the absence ofany suspect anomaly within the lumen and the normalappearance of the mucosa, which was extrinsicallypushed back at the distal esophagus. Magnetic reso-nance imaging (Fig.6) was done using T1-weighted se-quences both spin-echo (TR 506 ms, TE 12 ms) and gra-dient-echo (TR 122 ms, TE 4, 8 ms) images, obtainedbefore and after injection of a paramagnetic contrastagent (gadodiamide, Omniscan, Nycomed, Oslo, Nor-way). The results of this investigation were consistentwith diffuse leiomyomatosis of the esophagus and thecardioesophageal junction. Total esophagectomy wasthen carried out. Histopathologic study confirmed thediagnosis suggested by the various imaging techniques.

Discussion

Natural history

Whereas leiomyomas are the most frequent benign tu-mors of the esophagus [1], esophageal leiomyomatosisis a rare pathologic entity that has received little atten-tion in the radiologic literature. Levine et al. [2], in a re-cent retrospective series, found only six cases in a 22-year period. Diffuse esophageal leiomyomatosis is a be-nign neoplastic lesion that occurs in children or youngadults and is slightly more frequent in males. The condi-tion may occur in isolation or in association with leiomy-omas in other locations (uterus, vulva, bronchi). In somecases, esophageal leiomyomatosis displays autosomaldominant transmission [3, 4, 5], accompanying Alport'ssyndrome (a pathologic triad with renal, auditory, andocular involvement).

N. Sans et al.: Imaging of diffuse esopageal leiomyomatosis 135

Fig.1. Barium study (case 1). Multiple extrinsicdefects of the lower esophagus, with no modifica-tion of the mucosal wall

Fig.2. Gross appearance of the resected speci-men with multiple leiomyomas of the esophagealwall, mainly in the lower third (case 1)

Histopathologic study [6, 7, 8] shows modification ofthe smooth muscle layer of the esophagus, involvingone or both muscular layers (the longitudinal externallayer and the circumferential internal layer). Occasion-ally, the mucosa may be thickened or present nodularinfiltration. Diffuse hypertrophy of the smooth musclelayers generally predominates at the distal third of theesophagus but may also involve the cardia and the uppergastric pole. Leiomyomatosis is thus made up of multi-ple intramural leiomyomas which vary in size and maybe confluent so that they cannot be individually distin-guished.

N. Sans et al.: Imaging of diffuse esopageal leiomyomatosis136

3

4

5

6a

6b

Fig.3. A CT scan of the thorax (case 1). An opacity of the right api-cal parenchyma of the lung is seen, corresponding to bronchialleiomyomas

Fig.4. Anteroposterior thoracic radiograph (case 2). A retrocardi-ac soft tissue opacity is visible (arrowhead)

Fig.5. Postcontrast CT scan (case 2). Marked circumferentialthickening of the esophageal wall which appears homogeneousand of soft tissue attenuation

Fig.6a,b. Magnetic resonance image. a Frontal section obtainedon a T1-weighted spin-echo sequence (case 2). b Thickening ofthe lower esophagus and the gastroesophageal junction which ap-pears as a homogeneous isosignal

Diagnosis

Clinically, dysphagia, which may be painful, remains themajor symptom. It is generally long-standing and pro-gressive. Other digestive symptoms may be observed,among which vomiting, hematemesis, hiccups, or epi-gastralgia are the most frequent.

Chance discovery of an anomaly on an anteroposteri-or or lateral radiograph, though not specific, often leadsto further investigation. Various signs may be found onplain thoracic radiography: deviation or displacementof the paraesophageal stripes and mediastinal wideningwith lobulated, regular opacities.

Barium study frequently suggests achalasia, oftenshowing a dilated esophagus and a relatively narrowedgastroesophageal junction [9]. Oblique anteroposteriorviews may show rounded lacunar images with a regularoutline and no mucosal alteration. Classically, an acuteangle is formed by the junction between the tumor andthe uninvolved part of the esophagus. Concomitant im-ages of adjacent soft tissue lesions may be found. On ki-netic imaging these masses appear to follow the move-ment of the peristaltic waves, indicating absence of ad-herence or infiltration. Lateral views generally providemore information by clearly outlining the rounded orlobulated tumoral lesions. Although the esophageal lu-men may appear narrowed, there is no delay in the pas-sage of contrast media. the descent of the opaque con-trast material is blocked only exceptionally. Lastly, par-ticularly in children, barium study may reveal associatedgastroesophageal reflux.

Computed tomography is also important in establish-ing the diagnosis [5, 9, 10]. In the majority of cases itconfirms the intramural nature of the lesions and assess-es the circumferential thickening of the esophagus andany effect this may have on adjacent organs. If the CTshows that involvement is distal, the hypothesis of a ma-lignant tumor (a cardiac adenocarcinoma in particular)is the main differential diagnosis to be excluded. Inmore favorable cases where thickening does not affectthe distal esophagus, CT may show no evidence of lei-omyomatosis and orient the search towards another be-nign cause of dysphagia which leaves the lower esopha-gus intact, such as primary achalasia or peptic lesions[11].

To the best of our knowledge, no previous paper hasdealt with the MRI appearance of leiomyomatosis, andonly two authors [12, 13] have reported the MRI ap-pearance of an isolated esophageal leiomyoma. As wedid, they found a homogeneous appearance with an iso-signal on T1-weighted sequences and moderate hyper-signal on T2-weighted sequences. Gadolinium injectionreveals significant, homogeneous uptake. The use ofT1-weighted gradient-echo sequences performed duringbreath-holding before and after gadolinium injectionappears to define clearly the extent of the tumor. Inpractice, recourse to MRI does not yet seem necessary.Nevertheless, because of its multiplanar acquisitionsand absence of radiation, MRI could become an attrac-tive alternative for the investigation of benign esoph-ageal tumors.

Differential diagnosis

As previously mentioned, achalasia is the main differen-tial diagnosis because of the clinical, radiologic, and en-doscopic similarities. The clinical presentation and theresults of various complementary investigations (tho-racic radiograph, esogastroduodenal barium study, CTscan) may sometimes erroneously suggest a malignanttumoral process (leiomyosarcoma, adenocarcinoma,tracheobronchial tumor), particularly when the lesionextends into the fundus. Another possible diagnosis tobe considered is idiopathic muscular hypertrophy ofthe esophagus [14, 15]. This rare benign esophageal dis-order corresponds histologically to hypertrophy of allthe esophageal fibers and mainly of the muscular layers.The histopathologic and radiologic appearances aresometimes similar and may lead to some confusion be-tween these two disorders, which are nevertheless dis-tinct. Idiopathic muscular hypertrophy and its mainclinical manifestation, dysphagia, generally occur laterthan leiomyomatosis. Barium study often mimics acha-lasia. Computed tomography sometimes shows thicken-ing of the distal esophagus, but the cardia is not affect-ed.

In addition to these differential diagnoses, it is es-sential to look for other pathologic involvement incases where leiomyomatosis is not isolated but is pre-sent in the wider context of smooth muscle hyperplasia.In women, tracheobronchial, genital, and/or perinealinvolvement is classic. Tracheobronchial leiomyomato-sis is rare and is usually discovered at autopsy [3]. Ana-tomically, these lesions correspond to hypertrophy ofthe tracheobronchial smooth muscles, sometimes in as-sociation with a pediculated leiomyoma which ob-structs the tracheal lumen. Plain radiographs usuallyshow a ventilatory anomaly distal to the obstruction[16]. As in our case, CT can be of help in diagnosis byshowing diffuse lesions of the proximal or distal bron-chial tree.

Genital involvement is confined to women. In the ad-olescent and young woman, the first cases of associationof esophageal and genital lesions were reported as vul-var and esophagogastric leiomyomatosis or ªesophago-vulvar syndromeº [17]. Other authors reported twocases of perirectal leiomyomatosis [18].

Lastly, the coexistence of diffuse esophageal leiomy-omatosis and nephropathy with hematuria should sug-gest an association with Alport syndrome (hereditarynephropathy which in its complete form combines bilat-eral deafness and ocular complications, of which con-genital bilateral cataract is the most frequent). The firstreported case must probably be attributed to Johnstonet al. [19] in 1953. If Alport syndrome is discovered, anexhaustive family study must be carried out. The com-plete pathologic picture associates diffuse esophagealleiomyomatosis, extra-esophageal leiomyomatosis, andAlport syndrome [18, 20].

N. Sans et al.: Imaging of diffuse esopageal leiomyomatosis 137

Course of the disease

Whether isolated or in association, diffuse esophagealleiomyomatosis remains a benign disorder. To the bestof our knowledge, neoplastic transformation has neverbeen reported. Only two cases of association with othertumors are in the literature: an adenocarcinoma at theupper pole of the myoma, attached to an endobrachy-esophagus [18], and a metastatic gall bladder cancer.

After radical surgical treatment, the course is gener-ally satisfactory. In some cases involvement may reachhigh up the cervical esophagus where hypertrophy ofthe muscular layer is generally moderate. Surgicalesophagogastric or esophagocolonic anastomosis, as re-quired, may spare this portion of the esophagus whichwill later follow an unfavorable course.

When diffuse esophageal leiomyomatosis is associat-ed with another disorder (Alport syndrome, tracheo-bronchial involvement), the latter appears to be themain influence on the outcome.

Conclusion

Diffuse esophageal leiomyomatosis is a rare disorder ofthe esophagus the diagnosis of which relies mainly onbarium study and CT scan. Its particularity is that itmay either occur in isolation or form part of a widerpathologic picture associating leiomyomas outside thedigestive tract and Alport syndrome.

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