The Turkish Journal of Gastroenterology
2005, Volume 16, No 4, Page(s) 228-231
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|A previously diagnosed mitochondrial
neurogastrointestinal encephalomyopathy patient
presenting with perforated ileal diverticulitis
|Fikret AKSOY, Gökhan DEMİRAL, Tayfun BİLGİÇ, İbrahim Gürhan GÜNGÖR, Alp ÖZÇELİK
|Department of 2nd General Surgery, Göztepe Training and Research Hospital, İstanbul
|Keywords: MNGIE syndrome, ileal diverticulitis perforation,
Mitochondrial neurogastrointestinal encephalomyopathy is an
autosomal recessive multisystem disorder characterized clinically
by severe gastrointestinal dysmotility; cachexia; ptosis,
opthalmoparesis or both; peripheral neuropathy; leukoencephalopathy
and mitochondrial abnormalities in muscle. Gastrointestinal
dysmotility causes intestinal pseudo-obstruction and
small intestinal diverticula. In this case report, we present a
previously diagnosed 32-year-old female mitochondrial neurogastrointestinal
encephalomyopathy syndrome patient who was
hospitalized and operated due to ileal diverticulitis perforation
and died due to postoperative respiratory complications, and we
discuss the characteristic manifestations of the disease.
Gastointestinal dysmotility with dilatation and
slow emptying of the stomach and duodenum is
the most prominent manifestation in mitochondrial
(MNGIE) syndrome with recurrent diarrhea, borborygmi
and intestinal pseudo-obstruction (1, 2).
Other gastrointestinal manifestations are abdominal
pain, early satiety, abdominal cramps, nauseavomiting,
diverticulosis, gastroparesis, dysphagia
and hepatopathy (1). Jejunal and ileal diverticula
are acquired lesions that are usually associated
with gastrointestinal motility disorders, as seen in
this syndrome. Ocular involvement with external
ophthalmoparesis, ptosis, and pigmentary retinopathy;
peripheral neuropathy; limb weakness; hearing
loss; areflexia; ataxia; thin body habitus;
short stature; and early death are other manifestations
(1, 2). These patients may be hospitalized
in the course of their disease with the progression
of neurological symptoms or acute abdominal
symptoms, as in our case.
facial atrophy and limitation of lateral gaze. Muscle
strength was mildly diminished in all extremities
and reflexes were absent. The abdomen was severely
tender in all quadrants, rebound-defense
positive. All biochemical and hematological investigations
were within normal limits. Supine radiograph
of abdomen showed no signs of perforation
and no other pathology was noticed. Exploratory
laparotomy took place under the presumption of
perforated small intestinal diverticulitis. Intraoperatively
multiple diverticula were found nearly
1 cm in diameter in stomach and entire small intestine
(Figure 1). One of the diverticula in the ileal
segment was found to be perforated nearly 110
cm distal to the Treitz ligament. The surrounding
tissue and local peritoneum were changed by inflammation.
The perforated diverticulum was repaired
primarily. The postoperative period was
without complications until the 4th day when
signs of respiratory insufficiency appeared with
pneumonic infiltration. Nine days after the operation
the patient died from hospital-acquired pneumonia.
Figure 1. Multiple diverticula in the
Pseudo-obstruction is functional intestinal obstruction
in the absence of anatomical luminal occlusion
and results from defective intestinal motility.
It can be categorized as neurogenic or myopathic
forms (3, 4). The most widely recognized neurogenic
type of pseudo-obstruction is aganglionosis
or Hirschsprung’s disease. Other neurogenic
types include hypo-hyperganglionosis and abnormal
or absent neuritic connections between intestinal
ganglia, all known as intestinal neuronal
dysplasias (5, 6). MNGIE is the most common myopathic form of pseudo-obstruction (7, 8). The
myopathic forms of chronic intestinal pseudo-obstruction
are rare and often familial diseases of unknown
pathogenesis that are characterized by degeneration,
thinning and fibrous replacement of the
intestinal smooth muscle of the muscularis propria.
The lesions primarily affect the small intestine
but the esophagus, stomach and colon may be
The most prominent and debilitating symptom in
MNGIE syndrome is gastrointestinal dysmotility
(100%) because of the neuromuscular dysfunction,
and it can affect any portion of the enteric system
from the oropharynx through the small intestine
(10). The most common forms of dysmotility are
decreased small intestine motility and delayed
gastric emptying (2). The gastrointestinal dysmotility
often progresses to intestinal pseudo-obstruction.
Furthermore, small intestinal dysmotility
most probably leads to diverticula in the jejunum
and ileum. Gastrointestinal diverticulosis has been
reported with an incidence of 60-70% in different
reviews and specifically localized to the small
intestine (1, 2). Gastrointestinal symptoms, particularly
diarrhea and abdominal pain, are the most
common initial manifestations followed by ptosis
and ophthalmoparesis. When the syndrome begins
in childhood the course tends to be more severe
(2). In most patients, symptoms begin before the
age of 20. Peripheral neuropathy (100%), ophthalmoparesis
(85%), ptosis (65%), hearing loss (61%),
thin body habitus (100%), limb weakness - muscle
wasting (95%), areflexia (40%), and lactic acidosis
(64%) are other characteristic clinical features (2).
Weight loss generally coincides with the onset or
worsening of gastrointestinal symptoms (1). All
patients have gastrointestinal manifestations related
to dysmotility: borborygmi, diarrhea, early
satiety, abdominal cramps, nausea, vomiting, intestinal
pseudo-obstruction and gastroparesis.
In contrast to the gastrointestinal problems, the
neurological features are mild. Ptosis and opthalmoparesis
are evident to examiners but may be
asymptomatic. The peripheral neuropathy causes
stocking-glove sensory loss and tendon reflexes
are lost. Also, due to reduced mitochondrial respiratory
chain enzyme activity, lactic acidosis is seen
(1). MNGIE patients may present with neurological
signs or acute abdominal symptoms. There is
a report of a clinical study in the literature which
indicates that 16/24 patients died at an average
age of 35 (18-53 years) and two of them (8-9%) died due to ruptured diverticula which resulted in
fatal peritonitis (1). Small intestinal dysmotility
presumably leads to the diverticula; etiology of the
small intestinal dysmotility in MNGIE is unclear.
Two reports suggested a visceral myopathy, one
suggested a visceral neuropathy and another found
gastrointestinal scleroderma (10-13). Therefore,
the nature of the dysmotility is uncertain.
In our case, the 32-year-old patient presented as
acute abdomen and was diagnosed as perforated
ileal diverticulitis after diagnostic laparotomy. Because
of the high mortality rates of perforated
small intestinal diverticula (14), when a MNGIE
patient presents with abdominal pain, investigations
should be made for diverticulitis. In the normal
population, no pathognomonic features or clinical
symptoms indicating small intestinal diverticulitis
have been reported. The spectrum of
complaints varies from intermittent abdominal
pain to an acute abdomen with leukocytosis and
fever (15). In cases of ileal diverticulitis, clinical
presentation most often mimics acute appendicitis
(16). Jejunal diverticulitis perforation is difficult
to diagnose clinically because it is uncommon, has
no specific symptoms and often simulates peptic
ulcers or cholecystitis and other more familiar abdominal
diseases (17). Routinely performed plain
abdominal radiographs usually are not sufficient
for diagnosis, as in our patient. The most significant
finding is an air or contrast-filled diverticular
sac juxtaposed to the mesenteric side. Free intraperitoneal
air may also be a frequent finding.
On barium studies, displacement of adjacent organs,
mucosal or wall thickening, extraluminal
tracking of barium, and obstruction of the bowel
lumen may be found. There are only isolated reports
in the literature in which barium studies suggested
the diagnosis. The computed tomography
(CT) technique has been found to be superior to barium
studies in demonstrating the extent of mural,
serosal and mesenteric involvement in cases of perforation
(18). Laparotomy was performed in our
patient because of the signs of acute abdomen.
In our case postoperatively, there were no signs or
symptoms of complication and it was uneventfull
clinically. But on the 4th day after laparotomy,
respiratory symptoms and signs of pneumonic infiltration,
probably due to aspiration, began, and
the patient died on the 9th postoperative day despite
the appropriate antibiogram and antibiotherapy.
In MNGIE syndrome, the causes of death in
the literature are peritonitis due to intestinal rupture,
aspiration pneumonia, cardiac arrest, malignant
melanoma, suicide, postcolostomy complications,
and esophageal variceal bleeding related to
cirrhosis (1). Although afflicted with many disabilities
of the disease, our patient showed no tendencies
to suicide but rather was planning her life
In conclusion, when a patient with MNGIE presents
with abdominal pain, diverticulitis of the
small bowel with its possible complications must
be taken into consideration, and such modalities
as plain abdominal radiographs, barium studies or
CT should be performed.
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