A case of EMG (exomphalos, macroglossia, and gigantism) syndrome with associated renal tumor

A Case of EMG (Exomphalos, Macroglossia, and Gigantism) Syndrome With Associated Renal Tumor By J. Pr&ot,

l This

is a brief

report

of a patient

nephroblastoma

with

metastases,

ap-

INDEX

WORDS:

Beckwith

chemotherapy,

“cxomphalos,

and M. Schmitt

and radiation.

with and

cured by surgery,

The syndrome

J. Bauquel,

syndrome

Wiedemann-Beckwith parently

D. Olive,

macroglossia.

Wiedemann

syndrome;

and gigantism”

(EMG)

syndrome;

nephroblastoma.

was described

by

Beck-

with et al.’ in 1963, from autopsies on three such newborn children. These infants also had dysplasia of the adrenals,

the gonads.

renal overgrowth. tion was rapidly

the kidneys

In 1964. Wiedemann’ followed

by multiple

and the pancreas, described

associated

with a visceral

3 cases of the same syndrome

papers on this subject, including

particular

and his descrip-

that of Irving.’

describing

I I cases.

CASE Alexandre 5 mo (Fig.

Fig. pressing

G. weighed 41 kg when hospitalized I). Intravenous

Abdomen.

1. the

pyelography

Voluminous

abdominal

contents

with a large left abdominal

Fig.

com-

cannot

right.

2. be

lengthened

From the Department Address

reprint

4. 5400 Nancv.

of Pediatric

requests

Surgery

to: Profksseur

at the age of

II. Cliniyue

Jean Prevot.

Intravenous definitely

the despite

2).

tumor of

the

calcyles.

Bon-Secours, Clinique

pyelography: diagnosed

(Fig.

Nancy,

Bon-Secours.

France. 4 Rue Alhert-Lehrun.

France.

SE, 1977 hy Grune & Stratton.

Journal

tumor

tended to confirm the diagnosis of nephroblastoma

tumor to the

REPORT

of Pediatric

Surgery,

Vol.

Inc.

12, No.

4 (August),

1977

583

CASE

584

Fig. 4. Scintigraphy nephroblastoma.

Fig. 3.

Arteriography

is compatible

REPORTS

with

the

is diagnostic.

Fig. 5. The infont at birth. Note particularly the facial dysmorphio ond the mocroglossio.

CASE REPORTS

585

Arteriography revealed umbilical creatic

as well as the scintigraphy

a Wiedemann-Beckwith hernia, biopsies

examination

and gigantism were taken

confirmed

Follow-up inguino

disseminated with

tumor

alternating 26 mo. After totaling

of the infant

was discontinued The infant

was given

Vincristine

the first

a well

logical

were: presence of dysplastic

embryonic

parenchyma

child

and

pan-

Histological

of Actinomycin

the

later

The

of

abdomen

courses

intervals.

a large

existance

This

well

was filled

of Actinomycin treatment

masses disappeared.

is now

right

multiple D

lasted

for

Radiotherapy

2; yr after

chemotherapy

of the metastases. syndrome:

He also

glomeruli,

in the kidneys,

Six months

multiple

abdominal

EMG

of the ear lobe.

dense nuclei

out.

was performed. using

The

established

and indentations

by hyperchromatic

Adrenal

syndrome. 75 mg/kg

showed

at weekly

palpable

to the abdomen.

macrosomalia. dystrophic

Laparotomy

5 yr after the discovery

with

carried

chemotherapy

of treatment

given

and nearly

findings

examination

by a macroglossia,

was performed. of the EMG

palpation

and cyclophosphamide

month

presented

4). Clinical

Postoperatively

were regularly Abdominal

to the liver.

infant

3000 rad were

3 and

characterized

nephrectomy the diagnosis

of nephroblastoma.

was discovered.

The

with

5). A left

(Figs.

dysmorphia

of 5 days.

masses adjacent

metastases.

diagnostic

facial

to confirm

the diagnosis

examinations

scrotal

(Fig.

in order

D were given over a period

were

syndrome:

macroglossia.

had

some

blastematic

cytomegaly

in the left suprarenal

with

slight

umbilical

nodules

corresponding

irregular

elements

and hyperplasia

hernia.

hypoglycemia.

Histoto some

characterized

of the islets of Langerhans

in the tail of the pancreas.

DISCUSSION The

relationship

between

nephroblastomas. been reported syndrome also

of whtch in association

recorded

been

the

EMG

with

the EMG

in the literature,

reported

in

syndrome.’

All

throughout

childhood.

syndrome.

with

infants

and

are

malignancy

3 adrenal

7 had malignant

association

of these

syndrome

one was bilateral,

now

and

known.

Three

I hepatoblastoma

have

Of the approximately tumors

congenital

therefore

are

carcinomas, (about

high-risk

80 cases of the EMG

IO”,,).

hemihypertrophy4 cases and

well

Malignant and

tumors

have

Klippel-Trenaunay

must

be carefully

EMG

syndrome

watched

REFERENCES I.

Beckwith

Hyperplastic

JB, Wang fetal

visceromegaly,

glossia,

omphalocele,

cortex,

postnatal

abnormalities: Proceedings Seattle,

somatic

223, 1964

and

other

syndrome.

Pediatric

Society,

Complexe

ombilicale

nouveau.”

l:I.

J Genet

Human

13:

gigantism).

(exompha-

Prog

Ped

Surg

1970 4. Meadows

Wilm‘s with

tumor

MD:

pp 23-24,

hemihypertrophy,

Lichtenfeld three

J.

children

hemihypertrophy.

Koop

of

CE:

a woman

New

Engl

J

1974

RW,

Association

formations.

A, in

congenital

5. Miller

malformatif

et macroglossie,

I: The

los, macroglossia,

Med:

1964 HR:

avec hernie

un “syndrome

gigantism,

3. Irving

et al: macro-

of the adrenal

recognized

of the American

June 16-18,

GN with

cytomegaly

a newly

2. Wiedemann familial

C, Donnel

Fraumeni of Wilm’s and

JF tumor

other

Jr.

Manning

with

aniridia,

congenital

New Engl J Med 270:922,

1964

mal-