Journal of Pediatric Surgery (2005) 40, 1839 1843

www.elsevier.com/locate/jpedsurg

Late-presenting congenital diaphragmatic herniaB

By the Congenital Diaphragmatic Hernia Study Group*,1
Index words:
Late presentation;
Congenital
diaphragmatic hernia;
Diagnosis

Abstract
Background: Late-presenting congenital diaphragmatic hernia (CDH) is a rare subset of CDH, most
of the information derived from small series or case reports. The aim of this study was to document
the clinical manifestations of late-presenting CDH using a large multicenter database.
Methods: Information about late-presenting CDH (diagnosed at later than 30 days of age) was
identified from the database of the CDH Study Group (3098 cases collected during 1995-2004) and
reviewed retrospectively.
Results: Seventy-nine cases (2.6%) from 30 centers met the inclusion criteria. Seven cases had a
Morgagni hernia. There were 50 males (65%) and 27 females (35%). The mean age at diagnosis was
372 days (32 days to 15 years). Major associated anomalies (10 cardiac and 7 chromosomal
abnormalities) were identified in 12 cases (15%). Presenting symptoms were respiratory in 20 (43%),
gastrointestinal in 15 (33%), both in 6 (13%), and none (asymptomatic) in 5 (11%). The hernia was leftsided in 53 (69%), right-sided in 21 (27%), and central or bilateral in 3 (4%). Patients with
gastrointestinal symptoms invariably had left-sided hernias (n = 19), whereas patients with respiratory
symptoms (n = 24) seemed equally likely to have right- or left-sided lesions. A primary repair without
patch was done in all cases with 100% survival.
Conclusions: Presenting symptoms of late-onset CDH can be respiratory or gastrointestinal, but
presentation with gastrointestinal problems was more common in left-sided hernias, whereas respiratory symptoms predominated in right-sided lesions. The prognosis is excellent once the correct
diagnosis is made.
D 2005 Elsevier Inc. All rights reserved.

Congenital diaphragmatic hernia (CDH) is a well-known

cause of severe respiratory distress in the newborn and is
associated with a high mortality rate. There is a milder form

Presented at the 38th Annual Meeting of the Pacific Association of

Pediatric Surgeons, May 22-26, 2005, Vancouver, Canada.
B
The writing committee for the Congenital Diaphragmatic Hernia
Study Group (Yoshihiro Kitano, National Center for Child Health and
Development, Tokyo Japan; Kevin P. Lally and Pamela A. Lally, University
of Texas Houston, Houston, Tex) takes responsibility for the content of
this article.
T Corresponding author. Yoshihiro Kitano, Division of General
Surgery at National Center for Child Health and Development, Tokyo
157-8535 Japan.
1
The members of the Congenital Diaphragmatic Hernia Study Group
are listed in the appendix.
0022-3468/$ see front matter D 2005 Elsevier Inc. All rights reserved.
doi:10.1016/j.jpedsurg.2005.08.023

of CDH that does not present with symptoms until later in

life. The presenting symptoms, diagnosis, management, and
complications of late-presenting CDH differ considerably
from those of neonatal CDH. It is generally assumed that
acquired herniation of the abdominal viscera occurs through
a congenital diaphragmatic defect that had been occluded by
spleen or liver [1,2]. Previously normal chest radiographs
and findings of the defect covered by peritoneum without
any sign of inflammation support this assumption [2,3]. The
outcome is generally favorable, but misdiagnosis can result
in significant morbidity and mortality. Information about
late-presenting CDH is derived from many case reports or
small series [1,3 -8] except a recent collective review by
Baglaj [9]. The largest series in the literature is a report of
26 cases by Berman [7], followed by 2 series of 22 cases

1840

Congenital Diaphragmatic Hernia Study Group

[3,8]. In this retrospective study, we report a review of

the demographics, presenting symptoms, and outcomes of
late-presenting CDH using a multicenter database of the
Congenital Diaphragmatic Hernia Study Group.

Table 2

Presenting symptoms

Symptoms

Respiratory
Symptoms
Acute

20
10

1. Patients and methods

Records of 3098 liveborn patients with CDH from
30 centers were entered into the CDH database between
1995 and 2004. The database was screened for patients
with late-presenting CDH. All patients presenting later than
30 days of age were included. The patient demographics,
treatment, and outcomes were reviewed retrospectively.
Some data were compared with those of neonatal CDH
using the v 2 test, Fishers Exact probability test, or Students
t test. This study was approved by the institutional review
board at the University of Texas Houston.

2. Results
Seventy-nine cases (2.6%) from 30 centers met the
inclusion criteria. Seven cases had a Morgagni hernia
(3 right-sided, 2 central, and 1 bilateral; 6 males and
1 female). There were 50 males (65%) and 27 females
(35%). Data on sex were not available in 2 cases. There
were 34 males and 18 females with a left CDH and 13 males
and 8 females with a right CDH. Males dominated in both
groups with a male-to-female ratio of 1.9 in the left CDH
and 1.6 in the right CDH. The mean age at diagnosis was
372 days (n = 76; range, 32 days to 15 years). The age at
diagnosis was not different between the left CDH (390 F
1078 days; n = 50) and the right CDH (346 F 704 days;
n = 21). The hernia was left-sided in 53 (69%), right-sided
in 21 (27%), central in 2, and bilateral in 1. Birth weight
and gestational age were 3.1 F 0.7 kg (mean F SD; n = 39)
and 38.0 F 2.8 weeks (n = 54).
Major associated anomalies (10 cardiac and 7 chromosomal abnormalities) were identified in 12 cases (15.2%).
Table 1

Comparison of late-onset CDH with neonatal CDH

Late-onset
CDH
(n = 79)

Sex
Side

Statistical
significance

Male Female Male Female NS

50
27
1773 1221
Right Left
Right Left
NS
21
53
567 2384
3.1 F 0.7
3.0 F .65
NS

Birth
weight (kg)
Gestational
38.0 F 2.8
age (wk)
Association
15.2
of major
anomalies (%)
NS, not significant.

Neonatal
CDH
(n = 3010)

37.8 F 2.5

NS

17.8

NS

Chronic

Gastrointestinal
symptoms
Acute

10

URI/pneumonia, 6; respiratory
distress, 4; cough, 1; wheeze, 1; lung
infection, 1; breathing difficulties, 1;
Tachypnea, 1; SOB + cough, 1;
bR/O pneumonia,Q 2; chronic
respiratory distress, 2; silent
aspiration, 1

15
11

Chronic
Both
Acute

4
6
3

Chronic

Asymptomatic

Details

Vomiting F abdominal pain, 9;

tarry stool + abdominal pain, 1;
abdominal pain 2
FTT, 2; constipation, 2
pneumonia +/or respiratory distress
with vomiting +/or abdominal pain
FTT + recurrent URI, poor feeding +
cough, SOB + abdominal pain

URI, upper respiratory tract infection; SOB, shortness of breath; FTT,

failure to thrive.

Cardiac anomalies included ventricular septal defect (n = 4),

atrial septal defect (n = 2), ventricular septal defect and
atrial septal defect (n = 1), aortic insufficiency (n = 1),
tetralogy of Fallot (n = 1), and atrioventricular canal (n = 1).
Chromosomal anomalies included trisomy 21 (n = 4), 4psyndrome (n = 2), and paracentric inversion of long arm
chromosome (n = 1). Gastroesophageal reflux was found in
7 cases, 3 of which required surgery. In addition, there was
1 case with a history of contralateral CDH repaired in the
neonatal period.
When these results were compared with neonatal CDH,
there was no difference in sex distribution, side of hernia,
birth weight, gestational age at birth, and incidence of major
anomalies (Table 1). The same results were confirmed after
exclusion of Morgagni hernias.
Presenting symptoms could be identified in 46 cases
(Table 2). They were classified as respiratory (upper
respiratory tract infection, pneumonia, respiratory distress,
cough wheezing, etc) in 20 (43%), gastrointestinal (vomiting, abdominal pain, failure to thrive, constipation, etc) in
15 (33%), both in 6 (13%), and none (asymptomatic) in
5 (11%). Table 3 shows the side of the hernia and the
age at diagnosis as they relate to the presenting symptoms.
Of 15 patients with gastrointestinal symptoms, 13 had
left-sided hernias (1 central and 1 not described), whereas
patients with respiratory symptoms seemed equally likely
to have right- or left-sided lesions ( P b .05 by Fishers
Exact probability test). The age at diagnosis was not
different between the cases with respiratory and gastrointestinal symptoms.

Late -presenting CDH

1841

Table 3 Presenting symptoms in relation with side of the

hernia and age at diagnosis
Symptoms

Right Left Others Age at diagnosis

Respiratory
12
Gastrointestinal 0
Both
0
Asymptomatic
2

6
13
6
3

2
2
0
0

447 F 768 (n = 19)

625 F 1457 (n = 14)
1006 F 2178 (n = 6)
329 F 172 (n = 5)

A primary repair without patch was done in all 79 cases

with 100% survival; no serious complications were reported. The surgical approach was subcostal in 70, thoracic in
4, and both in 2. A hernia sac was present in 6 cases (7.6%).

3. Discussion
In this retrospective analysis of 79 late-presenting CDH,
the side distribution, male-to-female ratio, birth weight, and
gestational age were all comparable with those of neonatal
CDH. The rare presence of a hernia sac (7.6%) and a
moderate incidence of major associated anomalies (16.5%)
are also the features shared with neonatal variant. These
findings are compatible with the assumption that the defect
of late-presenting CDH is congenital [2].
Several features of late-presenting CDH were noted in
previously published studies. They include (1) a high
incidence of right-sided defects [1,4 -6], (2) presentation
primarily with respiratory symptoms in the younger patients
and gastrointestinal symptoms in the older ones [1,5,7], and
(3) younger age of patients with right CDH as compared
with those with left-sided defects [5,9]. We could not
confirm any of these features in our study. There was no
association between age and clinical presentation nor age
and side of the defect.
Late-presenting CDH is characterized by a variety of
clinical symptoms. The patients may present with a wide
range of acute or chronic respiratory or gastrointestinal
symptoms or may be completely asymptomatic. We found
that virtually all right CDH presented with respiratory
symptoms, whereas both respiratory and gastrointestinal
symptoms were seen equally in left CDH. This is in
agreement with the review of Baglaj [9], in which two thirds
of infants with right CDH had respiratory symptoms alone.
We speculate that partial liver herniation, which is a
common finding in the right CDH, may block the further
herniation of hollow viscera, preventing the development of
gastrointestinal symptoms.
Although pneumonia is frequently the initial incorrect
diagnosis in these children, it is usually not associated with
severe morbidity. In contrast, an incorrect diagnosis of
tension pneumothorax or pleural effusion is associated with
inappropriate chest tube insertion and subsequent gastrointestinal perforation [3,10,11] or bleeding from the thoracic
liver [12]. Nasogastric tube placement confirms herniation
of the stomach into the left side of the chest and is the initial

treatment of choice when a tension gastrothorax is

identified. The possibility of CDH should be considered in
unusual cases of pneumothorax, especially in the absence of
trauma, so that unnecessary procedures like chest tube
drainage can be avoided.
The incidence of late-presenting CDH of all CDH varies
from 5% [10] to as high as 45.5% [4]. The incidence of
45.5% reported from rural Egypt probably reflects the loss
of many neonates with CDH. Two reports from Toronto
had a similar incidence of 10%, 1.3 cases per year during
1966 to 1986 [7] and 11%, 1.7 cases per year during 1988 to
2000 [3]. Our incidence of 2.6% is much lower than these,
probably because of improved ability to diagnose CDH
prenatally. That this registry was originally designed to
collect data from newborn cases may have some impact.
This is obviously a major limitation of this study. Presenting
symptoms could not be identified in all cases. Those cases
with serious iatrogenic complications may have missed
being entered into the registry leading to underestimation of
complications and overoptimistic outcomes. Nevertheless,
this is the largest series of late-presenting CDH collected
over a relatively short period.
We conclude that presenting symptoms of late-onset CDH
can be respiratory or gastrointestinal, but presentation with
gastrointestinal problems was more common in left-sided
hernias, whereas respiratory symptoms predominated in rightsided lesions. The prognosis is excellent once the correct
diagnosis is made. A routine chest radiograph should be
included in the evaluation of the child with any unexplained
acute or chronic respiratory or gastrointestinal problems.

Appendix A
Center

City

State/
Country
Province

Arnold Palmer
Hospital For
Women and
Children
Astrid Lindgren
Boston
Childrens Hospital
Cardinal Glennon
Childrens Hospital
Central Hospital Aichi
Prefectural Colony
Childrens Hospital
at Carolinas
Medical Center
Childrens
Hospital of Akron
Childrens Hospital
of Alabama
Childrens Hospital
of Austin

Orlando

Fla

Stockholm
Boston

Mass

St Louis

Mo

Kasugai

Aichi

Charlotte

NC

Akron

Ohio

Birmingham

Ala

Austin

Tex

Sweden

Japan

(continued on next page)

1842

Congenital Diaphragmatic Hernia Study Group

Appendix A (continued)

Appendix A (continued)

Center

City

State/
Country
Province

Center

City

State/
Country
Province

Childrens Hospital
of Buffalo
Childrens Hospital
of Illinois
Childrens Hospital
of Michigan
Childrens Hospital
of Minneapolis
Childrens Hospital
of Oakland
Childrens Hospital
of Oklahoma
Childrens Hospital
of Philadelphia
Childrens Hospital
of Wisconsin
Childrens
Mercy Hospital
Childrens National
Medical Center
Cincinnati
Childrens Hospital
Medical Center
Cleveland Clinic
Foundation
Childrens Hospital
Columbus
Childrens Hospital
Cook Childrens
Medical Center
DeVos
Childrens Hospital
Duke University
Medical Center
Emory University
Freie Universitat
Berlin
Hasbro
Childrens Hospital
Hershey Medical
Center
James
Whitcomb Riley
Childrens Hospital
Kosair
Childrens Hospital
Legacy Emanuel
Childrens Hospital
Loma Linda
University
Childrens Hospital

Buffalo

NY

Palo Alto

Calif

Peoria

Ill

Park Ridge

Ill

Detroit

Mich

Boston

Mass

Minneapolis

Minn

Los Angeles

Calif

Oakland

Calif

Oklahoma
City
Philadelphia

Okla

Rochester
Augusta

Minn
Ga

Pa

Richmond

Va

Milwaukee

Wis

Charleston

SC

Overland
Park
Washington

Kan

Houston

Tex

DC

Dayton

Ohio

Cincinnati

Ohio

Lucile
Salter Packard
Childrens Hospital
Lutheran General
Hospital
Massachusetts
General Hospital
Mattel Childrens
Hospital at UCLA
Mayo Clinic
Medical College
of Georgia
Medical College
of Virginia
Medical
University of
South Carolina
Memorial Hermann
Childrens Hospital
Miami Valley
Hospital
National Center for
Child Health
and Development
North Carolina
Baptist Hospital
Oespedale Pediatrico
Bambino Gesu
Oespedale
Riunite Bergamo
Osaka University
Graduate School
of Medicine
Primary
Childrens Hospital
Rainbow Babies and
Children Hospital
Rockford Memorial
Childrens Hospital
Royal Alexandra
Hospital
Royal Childrens
Hospital
Royal Hospital for
Sick Children
Salesi Childrens
Hospital
San Diego
Childrens Hospital
Santa Rosa
Childrens Hospital

Cleveland

Ohio

Columbus

Ohio

Ft Worth

Tex

Grand Rapids Mich

Durham

NC

Atlanta
Berlin

Ga

Providence

RI

Hershey

Pa

Indianapolis

Ind

Louisville

Ky

Portland

Ore

Loma Linda

Calif

Germany

Tokyo

WinstonSalem
Rome

Japan

NC
Italy

Bergamo

Italy

Suita

Osaka

Salt Lake
City
Cleveland

Utah
Ohio

Rockford

Ill

Edmonton

Alberta Canada

Parkville

Victoria Australia

Glasgow

Yorkhill Scotland

Ancona

Japan

Italy

San Diego

Calif

San Antonio

Tex

Late -presenting CDH

1843

Appendix A (continued)
Center

City

Shands Childrens
Gainesville
Hospital/University
of Florida
Sophia
Rotterdam
Childrens Hospital
St Christophers
Philadelphia
Childrens Hospital
St Francis
Tulsa
Childrens Hospital
St Josephs Hospital Phoenix
and Medical Center
St Louis
St Louis
Childrens Hospital
St Paul Campus
Minneapolis
Childrens
Minneapolis
Strong
Rochester
Childrens Hospital
Sydney
Randwick
Childrens Hospital
TC Thompson
Chattanooga
Hospital
Texas
Houston
Childrens Hospital
The Hospital for
Toronto
Sick Children
Tulane
New Orleans
University Hospital
Universitatsklinikum Mannheim
Mannheim gGmbH
University Hospital B-3000
Gasthuisberg
Leuven
San Diego
University of
California
San Diego
University of Chicago Chicago
University of
Lexington
Kentucky
Medical Center
Ann Arbor
University of
Michigan
Medical Center
Omaha
University of
Nebraska
Medical Center
University of
Albuquerque
New Mexico
Childrens Hospital

Appendix A (continued)
State/
Country
Province

Center

City

State/
Country
Province

Fla

University of
North Carolina
University of
Puerto Rico
Medical Center
University of Texas
Medical Branch
at Galveston
University of
Virginia
Health System
Vanderbilt
Childrens Hospital
Wilford Hall USAF
Medical Center
Yale New Haven
Childrens Hospital

Chapel Hill

NC

San Juan

Puerto
Rico

Galveston

Tex

The
Netherlands
Pa
Okla
Ariz
Mo
Minn

NY
NWS

Charlottesville Va

Nashville

Tenn

Lackland
AFB
New Haven

Tex
Conn

Australia

References
Tenn
Tex
Ontario Canada
La
Germany
Belgium
Calif

Ill
Ky

Mich

Neb

NM

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