Lindsey

S. Rabushka,

MD

#{149} Elliot

K. Fishman,

Diffuse Esophageal with Alport Syndrome:

Alport tract

Esophagus,

syndrome

veloped year-old drome.

over a 5-month period in a 13girl with a history of Alport synBarium and manometnic studies

were

interpreted

lasia.

Despite

evaluation, postprandial

atypical, suggesting geal mass might

sion

of

(nephropathy,

sensonineural case report

diffuse

esophageal

tosis in a patient highlight several adult and pediatric lustrate the value tablish a diagnosis.

CT scan

to marked

Radiology

the

Russell

deafness). and discus-

copy

with

and

Radiological

Department

Science

of

(L.S.R.,

E.K.F., J.E.K.) and the Department of Pathology (R.H.H.), The Johns Hopkins Medical Institutions, Baltimore. Received October 26, 1990; revision

requested

ceived dress

C

176

16;

revision

re-

December 5; accepted December 10. Adreprint requests to E.K.F., Department of

Radiology,

Wolfe

November

The

Johns

St. Baltimore, RSNA, 1991

Hopkins

MD

21205.

Hospital,

600

biopsy

N

esopha1).

thorax

was

eccentric

and

2). Results

were

growth of perinectal this tissue revealed

was or

of endos-

negative

for

tu-

Figure

was tentatively incidentally noted was an over-

tissue. dilated

veins and fragments smooth muscle. This

A biopsy hemorrhoidal

of

with synevala mass

lesion.

A subsequent thoracotomy demonstrated multiple leiomyomas of the esophaThe

largest

was

a 13.5

intramural

X 8.5

X 3.2-cm

mass

(Fig

3).

The mass was firm, homogeneous, and well circumscribed. It replaced the entire thickness of the muscularis propnia of the esophagus, extending from immediately beneath the mucosa to the senosa. Necronot identified. of the neoplasm

cell had

Histologic revealed

spindle-shaped cytoplasm

membranes an overall

examifascicles

cells and

poorly

(Fig 4). The low cellularity,

with

eo-

defined

neoplasm minimal

atypia,

and no detectable mitoses. Immunohistochemical stains for actin (Enzo Biochem, New York) and desmin

(Biogenex Laboratories, San Ramon, Calif) produced positive results (Fig 5), while a stain for S-100 protein (Biogenex Laboratories) The lumen

produced negative of the esophagus was

1. Barium study demonstrates marked esophageal dilatation with retained food products. Abrupt luminal narrowing near the gastroesophageal junction was mitially

interpreted

sia; however, of luminal

of proliferating finding, along

the reported association of multiple smooth muscle tumors with Alport drome, prompted a more aggressive uation of the esophagus to exclude

sis was nation

Morgan

(Fig

circumferential

leiomyoma-

howevand were

of a lower esophageal possibly a leiomyoma

mor. Atypical achalasia diagnosed. However, during hospitalization

gus.

with Alport syndrome differences between leiomyomas and ilof CT in helping es-

H.

referred

of achala-

thickening

suggestive mass,

sinophilic From

her

of the

diffuse,

wall

of uniform I

acha-

was

as uncharacteristic

due

highly intramural

179:176-178

of the esophagus, while uncommon in adults, are exceedingly rare in children (i,2). In the pediatnic population, these tumors are a rare cause of dysphagia and are often misdiagnosed as an esophageal motility disorder. Computed tomography (CT) is therefore valuable in evaluating the intramural extent of tumor and differentiating this entity from other causes of dysphagia. On occasion, pediatric esophageal leiomyomas may be associated with syndromes (2-6), most cornlesions, following

she

that a lower present (Fig

be

A subsequent interpreted

EIOMYOMAS

ocular The

with

esophagus as is seen in achalasia; en, the length of luminal narrowing its displacement from the midline

#{149} Myoma,

syndrome

MD

de-

management, and

leiomyosarcoma

Alport

progressive vomiting

as consistent medical

worsened

esophageal

monly

H. Hruban,

REPORT

to initial and

sia 1991;

#{149} Ralph

to our institution for further evaluation. Reexamination of the previous barium study demonstrated marked esophageal dilatation, with tapering of the distal

71.3 131 Radiology

MD

Prior dysphagia

CT, 71.1211

71.3131

E. Kuhiman,

Leiomyomatosis in a Patient CT Demonstration’

symptoms

#{149} Children,

#{149} Esophagus,

neoplasms.

#{149} Janet

CASE

In a patient with progressive dysphagia, postprandial vomiting, and a history of Alport syndrome, banurn and manometric studies had been interpreted as consistent with achalasia, but a subsequent computed tomographic (CT) scan of the thorax was suggestive of a lower esophageal intramural mass. Multiplc leiomyomas of the esophagus were later proved at thoracotomy. Differences between adult and pediatric leiomyomas and the association of leiomyomas with Alport syndrome are discussed. Index terms: gastrointestinal

MD

results. dilated

the

as

consistent

distal

esophagus

tive

of

fect

along

with

achala-

on further review, the narrowing and displacement

either

to

the

intramural

the

proximal

to

ference),

and

or

distal

right

tumor was remarkable erosions measuring x 1.0 cm.

of

was

sugges-

extrinsic

medial

the neoplasm the mucosa

extent

mass

ef-

border.

(11-cm overlying

circumthe

for two superficial X 1.5 cm and 4.0

3.0

Additional segments of the gastroesophageal junction, distal esophagus, and midthoracic esophagus were also sected, and examination of these speci-

re-

mens revealed a diffuse proliferation of smooth muscle cells similar to that seen in the larger resection specimen. This smooth muscle proliferation was histologically identical to the above described rectal

biopsy

A distal gotomy,

specimen.

two-thirds and

esophagectomy,

pyloroplasty

were

vaperformed.

DISCUSSION Although

common gus, overall

they

leiornyornas benign are incidence

tumor relatively in

are of rare, autopsy

the

the

most

esophawith studies

an of

2b. Figures

2, 3.

3.

(2a) CT scan

of the thorax demonstrates marked esophageal dilatation with symmetric wall thickening involving tion of the esophagus. (2b) Marked asymmetric esophageal wall thickening of the distal esophagus suggestive of a large mass nal narrowing. (3) Gross specimen demonstrates the large leiomyomatous mass correlating with the extensive wall thickening esophagus. Diffuse involvement of the esophagus with leiomyomas explains the wall thickening seen at higher levels of the

-

#{149}

--

-

..__..*.

:

-*-

:

:

..-.-.

‘

‘:‘

.

view of pediatric esophageal leiomyomas noted several differences from the adult-type tumor (2). In children, lesions are more likely to be multiple or diffuse, requiring partial or complete esophagectomy, as opposed to single

‘

#{149} :

lesions

__

-

4

Figures

4, 5.

Microscopy of the large mass demonstrates cytoplasm, low cellularity, and minimal of leiomyomas. (5) Immunohistologic

(4)

with eosinophilic features characteristic

uniform spindle-shaped atypia with no detectable stain positive for actin.

cells mitoses,

in 1,119

(1). Typical

symptoms

include

phagia,

and

tients

The

els

of with

dle

and

may

even geal

first

often,

with

frequency levels

at

(1).

the

Tumors

midrarely

be multifocal discrete masses or diffuse infiltrations of the esophawall. This latter entity has been leiomyomatosis

Findings

pend

on

(8).

imaging

on whether

or

multifocal, phy,

diffuse.

a solitary

mural

solitary,

fined

edges

often

less

multifocal

defect (9).

than or

volvement. notes

diffuse

that

a high are

179

Number

de-

findings

are

may

esophageal

study

inof on

1

be

by Foun-

percentage

misdiagnosed

#{149}

intra-

clearly

or there

A previous

leiomyomas

the

as extrinsic lesions in demonstrating

location

may

intramural

of (10);

the

leiomyomas.

include

mass

(7).

a homogeneous however,

they

may be as nonspecific as esophageal wall thickening, especially with diffuse involvement (2). Superficial biopsies produce a low yield and are controversial

due

to

risk

of

bleeding,

making

enucleation more difficult (7). Recent reports describe successful diagnosis by means of endoscopic ultrasound (11). Nevertheless, many diagnoses are ultimately

has

rounded

with

However,

classic

de-

esophagogra-

classically

of a smooth, filling

Volume

will

are At

lesion

appearance

studies

lesions

intramural

Findings

at all 1evthey oc-

however,

greater

pa-

bleeding

be found

esophagus; lower

termed

tam

seen

may

esophagograms CT is valuable

odyno-

Less

be

tumors the

cur

dysphagia,

dyspepsia.

may

(7).

presenting

this

attained case.

Treatment

at thoracotomy, most

as often

in

consists

of enucleation. However, with extensive tumor involvement, partial or complete esophagectomy may be necessary (2). Leiomyomas of the esophagus are even rarer in children, representing approximately 2.6% of all documented cases of leiomyomas (2). A previous re-

amenable

to

enucleation

in

adults. In children, there is a slightly greater incidence among females, whereas in adults, the incidence is slightly greater among males. An association with Alport syndrome in 22% of cases has been noted recently (2). The association of leiomyomatosis with Alport syndrome is an interesting one and probably was first described in 1953 (12). Johnston et al described an 1 8-year-old woman with leiomyomatosis, nephropathy, and valvular hypertrophy (12). More recently, Cochat et al reviewed 12 cases of Alport syndrome with

one

the midponcausing lumiof the lower esophagus.

associated

visceral

leiomyomatosis

(3). All 12 patients had smooth muscle proliferation of the esophagus. Other areas of involvement with smooth muscle tumors included the genital and tracheobronchial regions. The authors postulate the existence of an Alport syndrome variant that includes visceral leiomyomatosis. Five cases of diffuse esophageal leiomyomatosis were recently described by Leborgne et al (4). In that series, four cases were familial, arising in two separate families. Of these four patients, two (one from each family) had associated Alport syndrome and one had leiomyomas associated with genital besions and cataracts but no nephropathy (4). This association has previously been referred to as the esophagogastnic-vulvar syndrome (5). The fifth case was nonfamilial and associated with cataracts but not nephropathy. Thus, not only are leiomyomas rare in children, they are more likely to be

Radiology

#{149} 177

diffuse drome.

and associated with One might postulate

a syna separate

in these

as opposed

pathogenesis

cases,

to isolated single leiomyomas of the esophagus. Furthermore, because of the diffuse esophageal involvement, with infiltration into the myenteric plexus, it is not unusual for these cases to be misdiagnosed as an esophageal motility disorder (eg, achalasia), as in this case report and previous reports (2,5-6). Thus, this tumor infiltration should be considered doachalasia.

as another

cause

of pseu-

With diffuse esophageal involvement, esophagognams may mimic achalasia, manometnic findings may be equivocal, and endoscopy can be used only to evaluate the mucosa. Cases may be inappropriately managed, and definitive diagnosis may be unnecessarily delayed. However, we have previously reviewed

sia patients

the

CT appearance

#{149} Radiology

the

intramural

nature

the disease and differentiating tity from achalasia and other

this causes

of

rare, leiomyomas, particularly multiple or diffuse, should be included in the differential diagnosis of dysphagia in the pediatric population. In addition, when they do occur, they are more likely to be familial or associated with a syndrome. Furthermore, as demonstrated in this case, by helping to define a mucosal, mural, or extrinsic cause of the patient’s symptoms, CT is invaluable

sis.

in

establishing

5.

enof

dysphagia. Although

a diagno-

6.

7.

1.

MG,

Peabody

2.

found

3.

4.

JW. Cancer

Bourque

Lyons WS, Leiomyomata 1976;

Deguzman of the

VC, esoph-

8.

9.

11.

38:2166-2175

et al. Esophageal two case reports

N, Bensoussan AL, leiomyoma in children: and review of the litera-

ture.JPediatrSurg

1989; 24:1103-1107.

Cochat

diologic

syndrome.

Esophagogasa new ra-

J Can Assoc Radiol

1973; 24:184-190. Fernandes JP, Mascarenhas MJ, Costa JC, Correia JP. Diffuse leiomyomatosis of the esophagus: a case report and review of the literature. Am J Dig Dis 1975; 20:684-690.

Fountain

SW.

Thonac

Leiomyoma

Cardiovasc

of the esophaSung

1986;

34:194-

Hsald J, Moussalli H, Hasleton PS. Diffuse leiomyomatosis of the oesophagus. Histopathology 1986; 10:755-759. Godard JE, McCranie D. Multiple leiomyomas of the esophagus. AJR 1973; 117:259-262. Megibow AJ, Balthazar EJ, Hulnick DH, et al. CT evaluation of gastrointestinal leiomyomas and leiomyosarcomas. AJR 1985; 144:727-731.

Seremetis agus.

RC, Sandrock AR. vulvan leiomyomatosis:

196.

10.

U

Schapiro tric and

gus.

References

of achala-

that, despite moderate to marked degrees of esophageal dilatation, esophageal wall thickness is normal (13). Therefore, early evaluation with CT may be useful in

178

and

demonstrating

M, Spigland

P, Guibaud P, Garcia Tomes R, et al. Diffuse leiomyomatosis in Alport syndrome. J Pediatr 1988; 113:339-343. Leborgne J, LeN#{233}elJC, Heloury AF, et al. La leiomyomatose oesophagienne diffuse. Chinurgie 1989; 115:277-286.

12.

13.

Murata Y, Yoshida M, Akimoto 5, et al. Evaluation of endoscopic ultnasonography for the diagnosis of submucosal tumors of the esophagus. Sung Endosc 1988; 2:51-58. Johnston JB, Clagett OT, McDonald JR.

Smooth

muscle

Thorax

1953; 8:251-265.

tumors

of the esophagus.

Rabushka LS, Fishman EK, Kuhlman CT evaluation of achalasia. J Comput sist Tomogr (in press).

April

JE. As-

1991