Unilateral diaphragmatic agenesis precluding laparoscopic cholecystectomy.

Abstract

Complete absence of a hemidiaphragm or diaphragmatic agenesis in adulthood is rare with only one previous report in the literature. Its significance in relation to performing laparoscopic procedures has not been documented previously.
We report a case of previously undiagnosed diaphragmatic agenesis in adulthood precluding laparoscopic cholecystectomy and comprehensively review the literature for papers relevant to diaphragmatic agenesis in adulthood.
Diaphragmatic agenesis in adulthood may complicate and preclude laparoscopic cholecystectomy. The principles of investigation and management of diaphragmatic agenesis complicating laparoscopic surgery are discussed.
In adults with diaphragmatic agenesis and intrathoracic abdominal viscera precluding laparoscopic cholecystectomy, conservative management is recommended.

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Unilateral Diaphragmatic Agenesis Precluding
Laparoscopic Cholecystectomy
JSLS(2000)4:259-261
259
ABSTRACT
Background: Complete absence of a hemidiaphragm or
diaphragmatic agenesis in adulthood is rare with only
one previous report in the literature. Its significance in
relation to performing laparoscopic procedures has not
been documented previously.
Methods: We report a case of previously undiagnosed
diaphragmatic agenesis in adulthood precluding laparo-
scopic cholecystectomy and comprehensively review the
literature for papers relevant to diaphragmatic agenesis
in adulthood.
Results:
complicate and preclude laparoscopic cholecystectomy.
The principles of investigation and management of
diaphragmatic agenesis complicating laparoscopic sur-
gery are discussed.
Diaphragmatic agenesis in adulthood may
Conclusions:
and intrathoracic abdominal viscera precluding laparo-
scopic cholecystectomy, conservative management is
recommended.
In adults with diaphragmatic agenesis
Key Words:
cholecystectomy.
Diaphragmatic agenesis, Laparoscopic
INTRODUCTION
Growth failure of the diaphragm during embryogenesis
(diaphragmatic agenesis [DA]) is associated with signifi-
cantly higher morbidity and mortality rates in the perina-
tal period compared to the more common posterolateral
(Bochkalek) defect in congenital diaphragmatic hernia,
even following surgical repair.1While the clinical course
of diaphragmatic agenesis in neonates is well document-
ed, there is a paucity of information on the significance
of this condition in adulthood. We report the case of an
adult patient in whom previously asymptomatic unilater-
al DA precluded laparoscopic cholecystectomy. To the
authors’ knowledge, only one other case of asympto-
matic unilateral DA presenting in adulthood has been
reported.2
CASE REPORT
A 41-year-old male presented with a two-year history of
progressively worsening fatty food intolerance, flatu-
lence, dyspepsia and intermittent right upper quadrant
pain radiating to his scapula. It had become increasing-
ly severe and caused sleep disturbance. He had no other
co-morbid medical conditions and an unremarkable past
medical history. On admission, physical examination
revealed absent breath sounds and dullness to percus-
sion in the right lung base but was otherwise unremark-
able. Liver function tests revealed a slightly elevated
gamma-glutamyl- transaminase (55 IU/L) but was other-
wise normal. Postero-anterior and right lateral plain film
chest radiographs were suggestive of a right diaphrag-
matic hernia. Abdominal ultrasound was confirmatory of
right diaphragmatic herniation of the abdominal viscera,
making it impossible to visualize the gallbladder.
Laparoscopy revealed right hemidiaphragm agenesis
with an elevated and rotated intra-thoracic liver (Figure
1). Bowel and omentum were in the right hemithorax
(Figure 2). Furthermore, the central tendon of the
diaphragm was absent with a pericardial defect (Figure
3). The gallbladder was not visualized at laparoscopy,
precluding laparoscopic cholecystectomy. He was fol-
lowed on an out-patient basis and was asymptomatic
until seven months later when he presented with a five-
day history of anorexia, jaundice and constant right
FRCSI, Department of Surgery, Mercy Hospital and University College, Cork, Ireland
(all authors).
Address reprint request to: Mr. A. Wakai, FRCSI, 44 Littlepace Wood, Clonee,
Dublin, Republic of Ireland. Telephone: +353-21-346325, Fax: +353-21-344-230,
E-mail: wakai@indigo.ie
© 2000 by JSLS, Journal of the Society of Laparoendoscopic Surgeons. Published by
the Society of Laparoendoscopic Surgeons, Inc.
Abel Wakai, MB, Desmond C. Winter, MD, Gerald C. O’Sullivan, MCh

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Unilateral Diaphragmatic Agenesis Precluding Laparoscopic Cholecystectomy, Wakai A et al.
260
JSLS(2000)4:259-261
upper quadrant pain radiating to his right subscapular
region. Abdominal ultrasound revealed dilatation of the
intra- and extra-hepatic bile ducts suggestive of choledo-
cholithiasis. Endoscopic retrograde cholangiopancre-
atography (ERCP) demonstrated common bile duct dilata-
tion with choledocholithiasis. ERCP with endoscopic
sphincterotomy, stone extraction and stenting of the com-
mon bile duct was performed. Following ERCP, he was
commenced on gallstone dissolution therapy with
ursodeoxycholic acid (250 mg twice daily orally).
DISCUSSION
Bingham, in 1959, first distinguished DA as a distinct
anatomical entity from the more common posterolateral
congenital diaphragmatic defect (Bochdalek) in an infant
who died shortly after birth.3Until a decade ago, DA was
considered exceedingly rare with only one case report of
survivors.2There has been an increased incidence of DA
in neonates with congenital diaphragmatic hernia since
the early 1980s due to improved perinatal care. The
reported incidence is 27-31% of cases of congenital
diaphragmatic hernia.1,4Experience on the management
of neonatal DA as a distinct clinical entity is thus increas-
ing.4 Consequently, the incidence of adults with DA is
likely to increase, and the management dilemmas of the
case presented here may occur more frequently in the
future.
Diagnosis of DA in adults is based on clinical findings
and imaging studies. Dullness to percussion and absent
or diminished breath sounds in a lung field may indicate
a congenital diaphragmatic hernia. Imaging studies
(chest radiography, and abdominal ultrasound) are con-
firmatory. In adults with DA presenting with cardiores-
Figure 1. Liver and omentum in right hemithorax via laparo-
scope.
Figure 2.
hemithorax via laparoscope.
Large bowel with attached omentum within right
Figure 3. Pericardial defect revealing myocardium as seen from
abdomen at laparoscopy.
intra-thoracic rotated liver ➨
intercostal muscles ➨
ribs ➨
ribs ➨
omentum ➨
intercostal muscles ➨
lung ➨
ribs ➨
ribs ➨
large bowel ➨
omentum ➨
pericardial defect ➨
liver ➨
myocardium ➨
omentum ➨

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piratory or gastrointestinal symptoms, the main principle
of diagnosis should be to systematically investigate the
gastrointestinal tract to rule out pathology in the herniat-
ed intrathoracic viscera.
Surgical repair of DA in adulthood is complex.
Difficulties arise in deciding the operative approach,
reducing the densely adherent intra-thoracic visceral con-
tents and repairing the extensive diaphragmatic defect.
Although the patient had no other co-morbid medical
condition, we decided on conservative management
because aggressive surgical intervention would have
involved an open cholecystectomy through a thoracoab-
dominal incision with difficulty in safely reducing the
intra-thoracic liver and reconstructing the diaphragm.
Furthermore, gallstone extraction was successfully per-
formed by ERCP, and the patient had survived into adult-
hood without medical problems related to the DA.
Emphasis was therefore placed on managing the chole-
docholithiasis endoscopically, supplemented with gall-
stone dissolution therapy. This minimalist approach was
successful without exposing the patient to an extensive
precarious surgical intervention to repair the diaphrag-
matic defects. The patient remains well and asympto-
matic on follow-up of 36 months.
JSLS(2000)4:259-261
261
CONCLUSION
In adults with DA precluding laparoscopic cholecystec-
tomy, conservative management is advocated. The focus
should be on elimination of symptoms rather than
diaphragmatic repair.
References:
1.
agenesis as a distinct clinical entity. J Paediatr Surg. 1995;30:16-
18.
Tsang TM, Tam PK, Dudley NE, Stevens J. Diaphragmatic
2.
Unilateral absence of the diaphragm in an asymptomatic adult.
Chest. 1988;94:1301-1303.
Tzelepis GE, Ettensohn DB, Shapiro B, McCool FD.
3.
ic hernia defects. Br J Surg. 1959;47:1-15.
Bingham JAW. Herniation through congenital diaphragmat-
4.
diaphragm. J Paediatr Surg. 1987;22:848-850.
Valente A, Brereton RJ. Unilateral agenesis of the