DECEMBER,
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GASTROINTESTINAL MUSCULAR
MANIFESTATIONS DYSTROPHIES*
A REVIEW
OF
J. SIMPSON,
By ALAN
ROENTGEN
M.D.,t YORK,
THE
FINDINGS
MANSHO
and
NEW
OF
1975
NEW
T.
KHILNANI,
types
of
M.D.
YORK
ABSTRACT:
Five
patients
dystrophy muscular
with
acute
megacolon
with
are presented. Dysfunction dystrophy is reviewed. The
summarized. tients with
Recognition of the muscular dystrophy
varied
of extra
progressive
smooth muscle gastrointestinal
diffuse smooth is stressed for
muscular
among roentgen
patients features
muscular involvement proper diagnosis and
with are
among papatient man-
agement.
T
HE ally
striated
muscular considered or voluntary
is
recognized
also
smooth Emphasis
muscle on
intestinal
tract
that
has
esophageal
bladder with
disease,5’6 myotonic
with
varied
pain,
distention
from
acute
dystrophy presented abdominal
resulting
this OF
an
obstructive,
report.
bowel jejunal
cause patient
of obstruction was well
obstruction.
(Fig.
was
and
parenteral From York, Present
with pains,
managed
the
Department
Address:
Physical of Radiology,
with
Mount
tube
Hospital,
Medical
Center,
Northfield,
and
E and
F). A skull
and
New
He
22
year
normal
level
dominal or black
pains stools
of
transit
old
a four
severe
associated occuring
year
was
recurrent
with either one to three
a markedly colon City
to
ab-
diarrhea times per
one to two days. a barium enema
sigmoid ofMedicine,
dysprior
crampy
revealed
School
diagnosed
history
and
Sinai
normal
normal.
myotonia
examination
Mount
was
was
male
small
proximal
time
having
aortic
The
series
occasionally lasting prior to admission,
dilated
the
was normal. partial, non-
dilated
as had
of
Jersey.
948
A
II.
the
childhood
admission
York. Mainland
showed
rotation.
loops,
week and One month
typical Sinai
I,
the
demonstrated
trophica.
organic
a long
findings,
at
organoaxial
CASE
abdominal distention, nausea, and vomiting.
medically fluids.
New
No
and
of the esophagus transverse with
study
during
at of re-
was found at surgery. The until the current admission,
when he presented crampy abdominal He
laparotomy symptoms
narrow
disappeared
knob. The caliber The stomach was
had un-
CASES
exploratory because of
relatively
wave
patients These
I. A 35 year old male was diagnosed years prior to admission as having myodystrophy. Two years prior to admission
intestinal
t
gall-
patients patients
Five
of these volvulus.
prompted
current
S
appeared
mucosa and normal contractility on postevacuation roentgenograms. The rectum was normal. The length of dilated colon was less than seen on a preliminary abdominal roentgenogram obtained on admission two days earlier (Fig. i, A-D). An upper gastrointestinal series demonstrated irregular and poor motility in the subaortic segment of the esophagus; the primary
(non-obstructing).
three sigmoid
he underwent another hospital
New
and
obstruction
REPORT CASE
gastro-
concerned in
Sinai Hospital complaints of
and
of
the
muscular
megacolon
findings
eight tonic
of
been
particularly dystrophy.
of
or myotonia dystrophica, included cataracts, frontal baldness, and atrophy and weakness of the muscles of the distal extremities and face. A barium enema study revealed marked segmental dilatation of the colon from the splenic flexure to the proximal sigmoid. The sigmoid
8 12,22,25
dysfunction’9’2’
at the Mount recurrent
usual
involvement
largely
types
In addition, associated
are generdisorders of However, it
frequently involvement
with
seen with
dystrophies to be muscle.
with University
redundant a
volvulus of New
York,
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VOL.
Manifestations
No.
125,
of the
Muscular
Dystrophies
949
I. Case I. (A) Plain roentgenogram of the abdomen shows marked dilatation of the colon from the hepatic flexure to the sigmoid. The left colon is relatively ahaustral. The ascending colon is normal in caliber. There is no small bowel distention. (B) Barium enema examination performed two days later demonstrates a dilated, ahaustral colon from the splenic fiexure to the sigmoid with the transverse colon normal in caliber on this roentgenogram. The right colon is normal and contains fecal matter. (C) Spot
FIG.
view
of the
perceptibly shows
sigmoid
with
normal
demonstrates
smooth
the normal
contractility
rectum of the
narrowing
and
dilated
sigmoid
of the
sigmoid
descending
with
normal
colon which merges smoothly and (D) Post evacuation roentgenogram The descendiflg colon is less dilated.
mucosa.
Upper gastrointestinal series shows a transverse stomach with partial organoaxial loops are dilated. The left colon (arrows) is still seen. (F) Examination Six hours study shows all the barium now in the colon. The distended left colon does not retain which
could
tion.
The
for
elective
reduced
with
entered
Mount
resection
Pulmonary
decrease decrease
be
patient
of
function
in ventilatory in maximal
The
electrocardiogram
the
thenar
des,
and
eminence an
the
phy,
was
revealed
a slight
with
a marked ventilation.
normal. were
Pertinent baldness,
physical testicular
hepatic markedly
of
on itself.
for
represented retrograde
muspositive
and
atrophy
of
the
distal extremities and myotonia. A barium enema examination prior to surgery revealed a dilated the was
Biopsies
gastrocnemius
ptosis,
(E)
rotation. The jejunal after the barium meal barium. muscles
of
the
Hospital
megasigmoid.
capacity voluntary and
intuba-
Sinai
studies
electromyogram
muscular dystrophy. ings included frontal
sigmoid
im-
colon.
findatro-
complete series
flexure to redundant
the
A narrowed one filling
(Fig. performed
21).
An
one
rectum. The and partially
segment
limb of the
performed colon from
in the
sigmoid rotated
sigmoid
of the volvulus. colon was slow upper
year
and
The in-
gastrointestinal
earlier
revealed
a
Alan
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950
J.
Simpson
and
markedly dilated stomach without obstruction. Examination obtained five hours after the barium meal examination showed most of the barium within the jejunum and proximal ileum indicating a slow transit (Fig. 2, B and C). CASE
iii.
A 54 year
old
female
was
diagnosed
Mansho
T.
Khilnani
DECEMBER,
2975
having a progressive muscular dystrophy age 40. In addition to complaints referrable to weakness of the muscles in her extremities, as
she
also
had
episodes of with bloating prior
to
a
six
acute and
admission,
year
history
of
recurrent
abdominal pain associated constipation. Three weeks she developed a left lower
at
VOL.
lobe
pneumonia.
included
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Manifestations
No.
225,
Pertinent
atrophy
of the
including
culty in accessory
Barium week prior
physical skeletal
resulting
in slight
which required muscles.
enema
examination
Muscular
Dystrophies
95’
findings
proximal
the chest,
breathing respiratory
of the
mus-
diffi-
the
use
of
performed
one
to admission during an acute episode of abdominal pain and distention disclosed a sigmoid volvulus. This was reduced by rectal intubation. The patient was admitted for elec-
tive
resection
because
of recurrent
volvulus.
A
plain roentgenogram of the abdomen prior to surgery showed distention of the colon with retention of barium in the descending colon from the barium enema examination performed one
week
above tip
before.
the
site
ofthe
The
rectal
volvulus.
tube
A
retained
of obstruction was
skull
barium
even beyond
was
though the
site
roentgenogram
the of the
disclosed
hyperostcsis frontalis interna. The resected sigmoid was dilated. Histologic study did not disclose a significant amount of muscle atrophy or fibrous replacement even though clinical and electromyographic studies were consistent with muscular dystrophy. One month following resection of the sigmoid, the patient was readmitted for a partial small bowel obstruction and was treated successfully with
a Cantor
tube
(Fig.
3).
CASE IV. A year old female developed facioscapulohumeral type of muscular dystrophy at age ten. Her abdominal complaints began five years before admission with cholelithiasis
and
cholecystititis.
cholecystectomy. performed at the marked
dilatation
months tient
after the was treated
conservatively
She
a
the
right
colon.
a long
tube.
of
mucus.
abdominal
mitted
to Mount
ical
findings
Because
pain Sinai
included
of
the
complaints
Hospital. atrophy
an
poor
evacuation
ahaustral
megacolon
(Fig.
4A).
phys-
weakness
which
A chest
Typical
There
findings
on a flat plate
performed
postsigmoid rereveals slight widenis no
of
obstruction
obstruction
of the abdomen
The right colon is less wide. seen at the splenic flexure.
gram
demonstrated
both
ad-
shoulders
CASE
as of
the proximal muscles of the upper extremities, face, and pelvis. The deep tendon reflexes were absent. The patient’s abdominal complaints subsided following antispasmodic treatment. A barium enema examination at this time revealed
volvulus bowel.
study
month
one
at
were week
prior
Pseudosacculation
is
subluxation
of
recurrent (Fig.
4B).
of
was
Positive and
recurrent small
bowel one
examination. The left colon outlined by contrast medium is dilated and contains air and a considerable amount of fecal matter (arrows).
gastro-
patient
tube
this
to
quadand and
the
time.
seen
Two
Other
for of
this
gallbladder surgery, the pafor intestinal obstruction
by
severe
ing
underwent
intestinal complaints included left lower rant crampy pain relieved by defecation constipation alternating with diarrhea passage
section
A barium enema examination time of this surgery revealed of
A small
FIG. 3. Case III. through a Cantor
V.’1’
having
prior
to
the
complaints
sisted
bilical diarrhea. of the
A 27 year old male was diagnosed myotonia dystrophica six years current admission. Gastrointestinal began five years earlier and con-
of recurrent
episodes
of colicky
perium-
pain
associated with black stools and Because of the increasing severity abdominal symptoms, the patient was
showed
roentgeno-
S
This
case has been
published
recently
as
a single
case.7
Alan
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952
J.
Simpson
and
Mansho
T.
Khilnani
DECEMBER,
2975
and atrophy ofthe muscles ofthe forearm, face, and neck. Cranial nerves eight to eleven were also involved. Myotonia was evident clinically and was confirmed by electromyographic study. Pulmonary function studies indicated a disturbance in ventilation with a ventilatory capacity of73 percent and a maximal voluntary ventilation of 6i percent. A small bowel series showed dilated loops with a delayed transit. Barium enema examination demonstrated a markedly redundant and dilated sigmoid colon associated with an incompletely obstructing sigmoid volvulus (Fig. ). The patient underwent elective resection. The postoperative course was uneventful. DISCUSSION
The
ered
muscular
dystrophies
to be a group
genetic
and
acterized by i.e., degeneration period
and
of
of clinically
syndromes
char-
abiotrophy
of skeletal
muscle
and
function.26
The
trophic
muscular
present
based
the
has
admitted. mild past
fection findings
Other
dysphagia history
of
was included
major
complaints
and urinary recurrent upper
also
obtained. frontal
included
incontinence. respiratory
Major baldness,
A in-
the to
physical weakness
failure
to
clear
regurgi Symptcms
fl’24
of
heartburn
of the A
esophageal
tal musculature pharyngeus
mechanism
may
is of
the
adequately
pyriform aspiration
from
sinuses and
dysphagia,
with nasal
regurgitation, frequently
in
myo-
are related to weak esophageal peristalsis the dysfunction of sphincter
and
gas-
distur-
esophagus as well as shown by manometric studies. This results
reported
tonia dystrophica ineffectual lower association with
of
implicated
amplitude
barium
and tracheal
esophagus
esopha-
disorder dystrophica
been
swallowing
reduced
the valleculae occasional
lower
a
dysfunction
pharynx and upper prolonged relaxation and cineradiographic
and
upper
which is only myotonia
muscle
in
at
clinical
pathogenesis
8, 9, 12,21,22,25
related
4. Case Iv. (A) A barium enema examination in a patient with facioscapulohumeral type of muscular dystrophy reveals an ahaustral dilated colon. The dilatation is more in the transverse colon and cecum. (B) A chest roentgenogram reveals bilateral subluxation of the shoulders (arrows).
primary
is
i)
and
and
trointestinal
FIG.
(Table
dys-
is unknown.’
disease)
smooth
a latent
of
genetic
pharyngeal
(Steinert’s
in
development
disease
geal impairment striated muscle,
bance
after
normal
classification
subdivisions
Excluding
with
atrophy
upon
since
of the
consid-
defined
biochemical
apparently
patterns,23
are
well
and
of the
of the pharynx, upper esophagus.8’2’ be
dilated,
may
and in the
skelecricoThe demon-
VOL.
strate
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or
Manifestations
No.
125,
poor
may
through The
stripping
show
the as
be
and during
absent,
quality
along
tj.’’
by
barium
passage
CLASSIFICATION
The acute
diminished, some
gas-
altered
degree
of
higher
incidence
ease and trophica
cholelithiasis is considered
impaired
contraction 68
B. Autosomal
dence is not resolved, since tion and poor contractility vagotomy
are
not
the
mci-
II.
A.
similar dilataseen following
associated
with
Myotonia
a high dystrophica blind ioop
smooth
collagen
dysfunction
in
Du-
congenita (Thomson’s disease) dystrophica (Steinert’s disease) congenita (Eulenberg’sdisease)
B. Myotonia C. Paramyotonia
incidence of cholelithiasis. Malabsorption and chronic small bowel dilatation and stasis have also implicated muscle
recessive
childhood muscular dystrophy (except chenne) congenital muscular dystrophy C. Facioscapulohumeral muscular dystrophy D. Distal muscular dystrophy E. Ocular muscular dystrophy F. Oculapharyngeal muscular dystrophy Cases with Myotonia
dilata-
of
i ncreased
(Duchenne type) (Becker type)
limb-girdle
dis-
emptying this
PROGRESSIVE
Dystrophy
benign
in myotonia dysto be the result of and
OF
DYSTROPHYu
I. “Pure” Muscular A. X-linked-severe
in
of gallbladder
However,
I
TYPES
dys-
acute
peristaltic phase and
or
OF MUSCULAR
by muscular of
953 TABLE
barium
18
The
Dystrophies
meal,
of
reports
atony. the
with
Muscular
junction.
is affected shown
tric dilatation activity is less
may
the
in
esophagogastric
stomach
function
of
delay
of the
myotonia
with syndrome
symptoms or to
similar to a those seen in
diseases.”#{176}”7
Recurrent pain,
episodes
diarrhea,
tion of these, of megacolon Megacolon tions such
with or obstruction,
may
sprung’s
also
disease,
derma, loidosis,
abdominal or
a combina-
associated with are also well as
volvulus
of crampy
obstipation,
presence 712,20
without complicaperforation,
be
seen
with
Chagas’
dermatomyositis, myxedema,
the
disease,
sclero-
diabetes, schizophrenia
in
or
Hirschamyand
following the use of drugs such as anticholinergics, artane and ganglionic blockers. Idiopathic intestinal pseudo-obstruction
also
is
recognized.’9 of the left
Volvulus
of
muscular
later
life,
and
dant sigmoid Volvulus was tients This
FIG.
5. Case
v. Barium a markedly
strates colon with
a partial
enema dilated
sigmoid
examination demonand redundant left
volvulus.
colon
dystrophy is often with present
who were complication
27 should
22,
decreased
noted
throughout
testinal ment,
tract. The dilated like a fluid containing
struction,
grene
and
and
and
motor
and compromise further increases
not
in
a redun-
mesocolon. of our pa-
5
years
be
surprising
function
rest
old.
may
of the and sac,
results
be
gastroinatonic segis apt to
its own blood the degree
if unrelieved
perforation.
to
narrow in three
since
twist This
absence
occurs
related a
the
in the
usually
supply. of obin
gan-
Alan
954 TABLE GASTROINTESTINAL
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THE
Pharynx:
weak
positive aspiration Esophagus
J.
or
FEATURES
OF
DYSTROPHIES
absent
vallecular
and
II
ROENTGEN MUSCULAR
Simpson
cricopharyngeus
sphincter
sign
: decreased,
uncoordinated,
or
non-pen-
staltic stripping dilated esophagus delay Small
at the esophagogastnic junction : distention, atony, altered penistalsis bowel: obstruction, malabsorption, ileus
Colon
: dilatation,
Stomach
Gallbladder:
cidence
pseudo-obstruction,
decreased
contractability,
volvulus
increased
in-
of cholelithiasis
A more recently reported roentgen feature of myotonic dystrophy stressed segmental narrowing rather than dilatation of the sigmoid colon. This was present in all of our patients. The etiology of this feature is not known.’3 It is not quite clear if this segmental narrowing is real or is only apparent, relative to the dilated colon above. Functionally, this narrowed or transitional segment shows normal contractility and smooth distention indicating intact smooth muscle and neuro-muscular function. It is unlike the behavior pattern of a dilated abnormal segment. The involved segment may show irregular, disorganized and ineffectual contraction. If segmental narrowing is a true hypercontractile phase, then one must conclude that another form of smooth muscle involvement may be present, consisting of a hyperactive state or a delayed relaxation. A similar state has not been seen nor reported in any other viscus. Analysis of additional material may clarify this point. Pathologic examination of the smooth muscle in the dilated part of the gastrointestinal tract in patients with muscular dystrophy has been limited. An often cited reference of a histologic study in four patients with progressive muscular dystrophies revealed atrophy of the muscle cells, edema, fibrosis and normal neural elements; these are not pathognomonic of muscular dystrophy.3
Mansho
T. Khilnani
DECEMBER,
1975
The onset of gastrointestinal dysfunction, particularly small or large bowel distention, is often initiated by an acute stress such as trauma or illness.4 This was present in two of our patients who had pneumonia and cholecystitis shortly before the onset of their acute phase of colon distention. Except for volvulus, the mechanism of acute symptoms has not been explained. Additional factors may be the onset of acute dilatation of the viscus in association with a pre-existing, chronic distention. Alternately, it may be the resistance offered by the transitional segment to a hypoor aperistaltic segment located proximally. The fact that smooth muscle dysfunction occurred among muscular dystrophy patients wi thout myotonia dystrophica further broadens the pathologic manifestations of progressive muscular dystrophy, and therefore the recognition that muscular dystrophy is a disorder of both skeletal and smooth muscle. A summary of the above gastrointestinal roentgen features of the muscular dystrophies
is presented
in Table
n;
and
the
extra-
gastrointestinal roentgen features, which are more commonly recognized, are summarized in Table m. III
TABLE EXTRA-GASTROINTESTINAL OF
Skull:’5
THE
ROENTGEN MUSCULAR
cranial
hyperostosis,
sella turcica, increase angle; hypotelorism; Heart:
size
failure
usually
Lungs: increased aspiration)
dysfunction,
decrease
(may
to conduction
incidence secondary
alveolar
diaphragm
musculature, respiratory Genitouninary:
even
in males;
in size of sinuses, small nasal angle
normal
secondary
FEATURES
DYSTROPHIES4
small
small
develop
basal
features
of
disturbances)
of pneumonia (infectious, to pharyngo-esophageal
hypoventilation excursion,
(related
weakness
and altered central mechanism), or both atonic bladder with
of
nervous
to chest
system
urinary
reten-
tion Musculo-skeletal
replacement
with
loss
of volume.
bone
with
atrophy,
tractures
of
Secondary demineralization,
muscle
by
involvement and
fat
of con-
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VOL.
125,
No.
Manifestations
4
Recognition systemic and with muscular only
by the radiologist of all the r3entgen features of patients dystrophy is importtnt not
to provide
patient
proper
diagnosis
management
patients, diagnosis muscular
of the Muscular
but
in
even
for
known
GENOL., KOHN,
13.
KRAIN,
better
pathology
955 &
THERAPY
MED.,
NUCLEAR
343-348.
N. N., FAIRES, J. S., and RODMAN, T. Unusual manifestations due to involvement of involuntary muscle in dystrophia myotonica. New England 7. Med., 1964, 271,
12.
dystrophy
suggest the correct skeletal and neurois not fully apparent.
RAD. 113,
1971,
to
if the obvious
Dystrophies
I 179-I
183.
S., and
features
tation
J. D. Radiologic
RABINOwITZ,
of myotonic
of new
dystrophy with Clin. Radiol.,
finding.
presen22,
1971,
462-465.
Mansho 121
New
T. Keilnani, M.D. 6oth Street York, New York 10322
14.
East
D. H. Gastric
KUIPER,
myotonia 16,
1971, 15.
S. R., and
LIN,
roentgenologic REFERENCES
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JR.,
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2!.
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J. N., and
WALTON,
BROTMAN,
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17,
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J.
AM.
&
involvement
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myotonia
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CANTER,
MED.,
myotonia. 22.
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PIERCE,
R.
1037-1042.
Roentgenologic examination treatment of colon volvulus.
1941,
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24.
K. K., and
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