*From the Department of Surgery, Beaumont Hospital, Dublin, Ireland.
Correspondence to: John J. Sheehan, MB, 4 Pinehaven, Cross Ave, Blackrock, County Dublin, Ireland; e-mail: email@example.com
A 66-year-old woman presented with a 3-day history of
classical features of large bowel obstruction. At emergency laparotomy,
the transverse colon and splenic flexure were located in the left
hemithorax. The entire left hemidiaphragm was absent, and there were no
diaphragmatic remnants visible. This is the oldest reported case of an
absent hemidiaphragm. Previous cases of “agenesis” of the
hemidiaphragm in adults either reported diaphragmatic remnants
intraoperatively or failed to rule them out radiologically when managed
conservatively. We would suggest that this is the first reported
case of an adult presenting with true agenesis of the
abnormalities may sometimes present late in life. This case report
outlines the rare occurrence of agenesis of the hemidiaphragm (AHD) in
a 66-year-old woman presenting with large bowel obstruction due to
incarceration of colon in her left hemithorax.
This is the first reported case of true AHD presenting late in
adulthood, with a complication of intestinal strangulation despite a
A 66-year-old woman presented to the emergency department
with classical features of large bowel obstruction. She had a 3-day
history of acute-onset abdominal pain, vomiting, abdominal distension,
and obstipation. She complained of severe heartburn and occasional
constipation for years and had been informed at age 20, following a
routine chest radiograph, that she had a diaphragmatic abnormality.
On presentation, she was distressed and dyspneic. She had
tachycardia and hypoxia, but was normotensive. Examination of her chest
revealed bowel sounds and absent air entry in the left hemithorax. Her
abdomen was grossly distended and tympanitic with high-pitched bowel
sounds. She subsequently developed type-2 respiratory failure with
respiratory acidosis and compensatory metabolic alkalosis.
Chest radiograph (Fig 1
) demonstrated large bowel and diminished pulmonary volume in the left
hemithorax. Plain radiograph of the abdomen demonstrated gross
dilatation of small and large bowel.
At emergency laparotomy, the transverse colon and splenic flexure were
located in the left hemithorax with marked proximal dilatation of the
ascending colon and small bowel. There was a tight stricture of the
distal transverse colon at the site of entry of the colon into the
thorax. The entire left hemidiaphragm was absent, and there were no
diaphragmatic remnants visible. A transverse colectomy with an
end-to-end anastomosis was performed to remove the stricture. Colon
resection also minimizes the risk of future herniation by reducing the
amount of redundant bowel present. Primary repair of the defect was
obviously not possible because of the absence of the diaphragm or its
remnants. Mesh repair was deemed inappropriate because of the potential
for infectious complications.
Postoperatively, the patient was managed in the critical care unit for
15 days owing to a series of pulmonary complications including
pneumonia, pulmonary edema, and cor pulmonale.
Her condition improved, and by day 30 she was on full diet with a
normal bowel habit. Subsequent chest radiographs (Fig 2
) identified a well-expanded left lung. She was discharged on day 60.
Further evaluation with CT and MRI confirmed the defect. On follow-up 1
year later, she was well.
Congenital diaphragmatic herniation is usually diagnosed within
minutes or hours after birth because of pulmonary
complications1and may be classified as complete or
partial. Partial defects of the diaphragm are more common, including
posterolateral herniations at the foramen of Bochdalek. Defects of the
foramen of Morgagni, which occur less frequently, are found anteriorly.
AHD is unusual and may be associated with pulmonary hypoplasia,
resulting in progressive respiratory failure and death of the
neonate.2 Late presentation of AHD is exceedingly rare.
Our patient is the oldest reported case in the English-language
AHD results from nondevelopment of the embryologic origins of the
diaphragm, including the septum transversum, dorsal mesentery of the
esophagus, innermost thoracic wall, and pleuroperitoneal membranes. It
is left sided in 88.2%3to 97%4 of cases.
Tzelepis et al5 reported absence of the left hemidiaphragm
in an asymptomatic adult. Although they stressed that the large
pleuroperitoneal communication in such a defect allows for free
movement of the intestines, making intestinal strangulation unlikely,
the present case demonstrates that such a complication may still occur.
Of the three previously reported cases of “agenesis” of the
hemidiaphragm in adults, two were left sided and were repaired by
suturing a synthetic mesh to diaphragmatic remnants2;
given the presence of these remnants, these cases therefore did not
represent true agenesis. The remaining case, which was right sided, was
managed conservatively without adequate investigation to confirm true
In the elective setting, repair of the diaphragmatic defect with
prosthetic mesh is optimal. In this case, however, the presence of
large bowel obstruction and the need for colonic resection increased
the risk of infection of any prosthesis and was therefore not
performed. Resection of the mobile transverse colon reduces the
likelihood of hernia recurrence by reducing redundant colon. In the
event of future symptoms, elective diaphragmatic mesh repair would be
Postoperative CT and MRI of our patient demonstrated absence of the
left hemidiaphragm, and intraoperative examination failed to find any
diaphragmatic remnants, thus suggesting that this case is the first
reported case of an adult survivor with complete true AHD.
Abbreviation: AHD = agenesis of the
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