512
Acute Gastric Dilatation in Duchenne Muscular Dystrophy:
A Case Report and Review of the Literature
Elizabeth S. Bensen, MD, Kenneth M. Jaffe, MD, PhiUip I. Tarr, MD
ABSTRACT. Bensen ES, Jaffe KM, Tarr PI. Acute gastric
dilatation in Duchenne muscular dystrophy: a case report and
review of the literature. Arch Phys Med Rehabil 1996;77:
512-4.
Duchenne muscular dystrophy (DMD) is the most common
neuromuscular disorder of childhood. Its clinical characteristics
that derive from skeletal muscle involvement have been well
described. Less well known is that visceral smooth muscle is
affected in DMD. We report a case of a 19-year-old man with
DMD who presented with severe nonradiating epigastric pain.
He was initially sent home from the emergency department with
a diagnosis of costochondritis. Acute gastric dilation was not
considered in the differential diagnosis despite supportive history, physical examination findings, and radiographs. The case
illustrates the lack of familiarity by clinicians of the gastrointestinal manifestations of DMD, including gastric dilatation and
intestinal pseudoobstruction. Following a case discussion, the
literature relevant to acute gastric atony is reviewed.
© 1996 by the American Congress of Rehabilitation Medicine
and the American Academy of Physical Medicine and Rehabilitation
UCHENNE muscular dystrophy (DMD) is the most common congenital neuromuscular disorder of childhood.] Its
most predominant clinical characteristics are derived from skeletal muscle involvement.2 It is not well appreciated, however,
that visceral smooth muscle may also be affected in DMD.
Involvement of gastrointestinal smooth muscle can cause significant morbidity, but few articles in the medical, pediatric, or
rehabilitation literature address gastrointestinal complications
in DMD. T M In fact, standard textbooks of internal medicine,
pediatrics, and rehabilitation fail to describe gastrointestional
motility as a complication of DM'D. 15"17We describe a 19-yearold man with DMD and acute gastric dilatation to alert clinicians
to gastrointestinal involvement in individuals with DMD.
D
CASE REPORT
A 19-year-old man with DMD presented to the emergency
department (ED) of a regional pediatric medical center with a
12-hour history of severe nonradiating epigastric pain. He denied having fever, chills, vomiting, diarrhea, dyspnea, or cough,
but he did complain of nausea. The pain was described as sharp
and constant in intensity. Although he typically tolerated regular
foods without difficulty, he had been unable to eat or drink for
6 hours before presentation and reported decreased urine output.
From the Departmentof RehabilitationMedicine(Drs. Bensenand Jaffe) and
the Departmentsof Pediatrics(Drs. Jaffe and Tarr) and Microbiology(Dr. Tar0,
Universityof WashingtonSchool of Medicine;and the Children'sHospitaland
Medical Center(Drs. Jaffe and Tarr), Seattle,WA.
Submittedfor publicationOctober 11, 1995.AcceptedNovember14, 1995.
No commercialparty having a direct financialinterestin the results of the
research supportingthis articlehas or will confer a benefituponthe authors or
upon any organizationwithwhich the authors are associated.
Reprint requests to KennethM. Jaffe, MD, Children'sHospitaland Medical
Center, PC) Box 5371, CH-71,4800 SandPointWay NE, Seattle,WA 98105.
© 1996by the AmericanCongressof RehabilitationMedicineandthe American
Academyof PhysicalMedicineand Rehabilitation
0003-9993/96/7705-3731$3.00/0
Arch Phys Med Rehabil Vol 77, May 1996
He denied having melena, visible blood in the stool, heartburn,
palpitations, or lightheadedness.
The patient had been diagnosed with DMD at 5 years of age.
He became wheelchair dependent at 9 years and underwent
segmental spinal instrumentation for progressive scoliosis at
age 13. Three years earlier, during an episode of pneumonia,
he went into acute respiratory failure and required short-term
mechanical ventilation. His vital capacity was 0.7 liters 6
months before the present admission. He was on no regular
medications.
On examination in the ED, the patient appeared ill and was
somnolent. His rectal temperature was 35.6°C, pulse was 152
beats/min and regular, respiratory rate was 24 breaths/rain, and
blood pressure was 128/61mmHg. Skin turgor was normal. The
patient's sclera were anicteric, and the oropharynx was clear
with moist mucous membranes. Chest excursion was symmetric
with shallow inspirations. Lungs were clear to auscultation. No
cardiac rub or murmur was detected. The abdomen was distended but soft, and bowel tones were diminished. The abdomen
was diffusely tender to palpation, but the tenderness was more
prominent in the left upper and lower quadrants. There was no
rebound tenderness or guarding. The patient had costochondral
tenderness along the right sternal border. Rectal exam demonstrated no masses, and the stool was guiac negative. Chest radiograph was without infiltrate, effusion, or pneumothorax; cardiac
silhouette appeared normal. Plain abdominal radiograph (fig 1)
showed significant gastric dilatation and dilated loops of small
bowel. There was no free air or evidence of mechanical obstruction, but a paucity of gas in the colon was noted. The patient
was discharged from the ED with a diagnosis of costochondritis.
The patient returned to the ED within 2 hours with increased
epigastfic pain. Repeat examination demonstrated no additional
abnormalities. Laboratory investigation demonstrated a white
blood count of 33,200//zL with 86% polymorphonuclear neutrophils, 6% bands, 7% lymphocytes, and 1% monocytes; hemoglobin (16.3g/dL), electrolytes (Na = 141mEq/L, K = 4.0mEq/
L, C1 = 97mEq/L, bicarbonate = 15mEq/L), BUN (7mg/dL),
creatinine (0.1 mg/dL), amylase (411U/L), lipase (121U/L), bilirubin (0.3mg/dL), and alkaline phosphatase (145IU/L) were obtained. Arterial blood had a pH of 7.25, a Pco2 of 42mmHG,
and a Po2 of 96mmHG. Urinalysis was positive for glucose and
ketones and had a specific gravity of 1.023; microscopic analysis was normal.
The differential diagnosis in the ED included peptic ulcer
disease, gastric atony, hepatohiliary or pancreatic disease, and
bowel obstruction with perforation with concurrent dehydration
and possible sepsis. A nasogastric tube was easily passed.
Broad-spectrum antibiotics, ranitidine, and hydration were administered intravenously. By the next morning, the patient's
abdominal pain had decreased, and a radiograph showed decompression of the stomach. An abdominal ultrasound was notable
only for biliary sludging, for which the patient was started on
ursodiol. On the third hospital day, after passing flatus, his
nasogastric tube was clamped, and he was started on enteral
nutrition. Tube feedings were initially tolerated poorly with
complaints of nausea and fullness. Administration of 10rag of
cisapride orally twice a day resulted in significant improvement
DUCHENNE MUSCULAR DYSTROPHY, GASTRIC DILATATION, Bensen
Fig 1. Radiograph demonstrating markedly enlarged gastric silhouette.
of oral intake and decreased nausea. The patient's glucosuria
and ketonnria resolved after intravenous fluid administration.
He was discharged on hospital day 11 on a low-fat diet, cisapride, ranitidine, and ursodiol. The patient was seen in clinic 1
week after discharge without complaints.
DISCUSSION
Despite supportive examination findings and correlating laboratory and radiological data, acute gastric dilatation was not
initially appreciated as a diagnostic entity. Prompt diagnosis is
imperative, given potential risk of perforation, 3 dehydration, and
acid/base abnormalities. Appropriate diagnosis will eliminate
the need for unnecessary testing or inappropriate and potentially
adverse treatments.
Case reports and autopsy studies describing acute gastric atony in the literature are relatively few. Autopsies by Bevans 3
in 1945 described 4 patients with muscular dystrophy, all of
whom had histopathologic abnormalities of the gastrointestinal
tract. Two of the 4 autopsies demonstrated marked stomach
dilatation, one of which was perforated. Huvos and Prnzanski 4
in 1967 described 3 patients with histologic changes in smooth
muscle similar to that of skeletal muscle, namely fatty infiltration of myofibrils, atrophy, focal fibrosis, and interstitial edema.
Crowe 5 reported clinical gastric dilatation for the first time in
the English literature in a symptomatic 9-year-old boy with
DMD. Robin and Falewski6 described 14 patients whom they
followed for 4 years. Twelve of the boys had one or more
episodes of gastric dilatation requiring treatment. The investigators believed gastric dilatation was so characteristic of DMD,
in contrast to its infrequency in polio or spinal cord injury, that
it was pathognomic for DMD. Stark and colleagues7 recently
described an episode of acute gastric dilatation in a 26-year-old
ventilator-dependent patient who was admitted to the hospital
twice in 2 weeks for epigastric pain and abdominal distension,
and radiographic evidence of gastric dilatation.
513
The overall prevalence of acute gastric dilatation in patients
with DMD is unknown. However, Jaffe and coworkers 8 studied
symptoms of upper gastrointestinal dysfunction in a case-control study comparing 55 patients with DMD to healthy agematched controls. The patients with muscular dystrophy experienced six symptoms (dysphagia, nasal voice, choking while
eating, the need to clear the throat during or after eating, heartburn, and vomiting during or after meals) more frequently than
controls. These symptoms were more prevalent in the older
nonambulatory DMD patients than in younger ambulatory boys
with DMD. Willig's study, 9 which examined alimentation problems in subjects with neuromuscular disease, found choking to
be similarly prevalent in patients with DMD. Several other studies describe various other GI manifestations of DMD.~2'I3 Leon
and colleagues ~2 described one boy who had lifelong recurrent
attacks of abdominal pain associated with nausea, emesis, and
constipation. Radiographs repeatedly showed dilated loops of
small and large bowel with air/fluid levels consistent with pseudoobstruction. At no time was there evidence for mechanical
obstruction or mucosal abnormality.
Barohn and associates J° reported gastric hypomotility in 11
patients with DMD dystrophy (mean age, 16.5 years). Gastric
emptying in these subjects was significantly prolonged in contrast to 11 healthy controls. Two subjects had previously experienced episodes of acute gastric dilatation, and 6 of the patients
had chronic postprandial belching and abdominal bloating.
Stainao and coworkers H compared gastric emptying in 15 patents (mean age, 8.0 years) with muscular dystrophy to agematched controls. The percentage of retention of the gastric
isotope was significantly greater in those with muscular dystrophy than in the control group. Clinical evidence of skeletal
muscle dysfunction was minimal in 14 of the 15 patients,
whereas one third of the patients had gastrointestinal symptoms,
namely anorexia and abnormal stool frequency. The authors
suggest that diffuse gastrointestinal dysfunction may predate
the onset of clinically evident skeletal muscle involvement. In
contrast to this study, Korman and coworkers ~4 evaluated orocaecal transit time with a lactulose breath hydrogen test in
wheelchair-dependent patients with DMD (mean age, 17.0
years) as compared to healthy controls and to patients with
other neuromuscular disorders. The authors found no significant
difference between the three groups. However, they noted that
their results were solely dependent on small intestinal transit
time and would not be influenced by delayed gastric emptying.
Even if gastric emptying were significantly prolonged, some
small amount of lactulose would still pass through the pylorns
after ingestion.
Barohn ~° notes that there is likely little difference in the patents described with acute gastric dilatation versus those with
pseudoobstrnction and obstipation. Instead, he proposed that
these various entities represent a clinical continuum with a similar underlying pathological process. This theory is supported by
pathological reports. 34'8'1°'12 Autopsies in several patients with
muscular dystrophy found marked abnormalities of the gastrointestinal tract, including edema, atrophy, and disappearance of
smooth muscle cells, and areas of fibrosis that follow the same
pattern as skeletal muscle changes. There is no evidence for
neurologic abnormality in the myenteric plexus. 3-4'~°'j3
Immunohistologic studies suggest deficient levels of dystrophin within smooth muscle, but the clinical significance of
this has not been definitively ascertained. 18 Boland and colleagues ~9looked at morphological characteristics in smooth and
skeletal muscles in mdx mice, the murine model of DMD. They
found no cell necrosis or fibrosis in smooth muscle, including
the stomach, ileum, colon, urinary bladder, vas deferens, and
aorta. However, they observed a reduction in the thickness of
Arch Phys Med Rehabil Vol 77, May 1996
514
DUCHENNE MUSCULAR DYSTROPHY, GASTRIC DILATATION, Bensen
the muscular digestive layers in contrast to normal thickness in
the aortic and urogenital muscle layers. The authors postulate
that the decreased muscle thickness might reflect smooth muscle
atrophy resulting from mild cell necrosis that was not detected
microscopically.
Gastrointestinal symptoms are more common in patients with
DMD than has previously been appreciated and are associated
with both morbidity and mortality. 5,6'j2 Although the incidence
of gastric dilatation in this patient population is uncertain, clinical gastrointestinal symptoms appear to increase with age. For
patients with DMD who prolong their lives with mechanical
ventilation, the incidence of gastric dilatation may therefore
increase over time. The use of prokinetic agents to decrease
gastrointestinal symptoms in these patients is worthy of investigation. The increased awareness of upper gastrointestinal motility disorders in DMD by practitioners might lead to improved
symptomatic treatment (ie, cisapride) for delayed gastric emptying and timely decompression in life-threatening acute gastric
dilatation.
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Arch Phys Med Rehabil Vol 77, May 1996
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