JK SCIENCE

GI~AL ARTICLE

Congenital Anomalies of the Diaphragm in Children

Nasib C. Digray, Yogeshwar Mengi, H. L. Goswamy

Abstract

Twenty children with various diaphragmatic anomalies, managed over a period of 3 years, arepresented. These included congenital diaphragmatic hemia (CDH 10), congenital eventration ofdiaphragm (CDE 6) and hiatus hernia with gastro-esophageal reflux (HH-GER 4). Clinicalpresentation of these children was: respiratory distress (7), recurrent respiratory tract infcction\\1' failure to thrive (II) and gastric volvulus (3). Two patients ofgastric volvulus had acute surgicalabdomen The patients in respiratory distress group were all newborns with CDH. Whereas, those\\ho had gastnc volvulus were CDE 2 and HH-GER I. All children were operated through lefts' IStal transabdominal approach, except those with HH-GER who were explored through uppermldlinc ll1CISlon. Repair of diaphragmatic defect/plication was done in patients with CDHlCDE,\\li,r~as issen fundoplication (Loose wrap) was done in patients of HH-GER. Threc newborns\11th CDH and one child with CDE and gastric volvulus died. All other 16 surviving children aredomg well after 4 months to 3 years of follow up.

Key words

Diaphragmatic hemia, Eventration, Gastro-esophageal Reflux, Hiatus Hemia, Volvulus.

Patients and Methods

16

remains a considerable mortality in babies born with this

anomaly. In other diaphragmallc defects, the surgical

mortality is low unless complicated with other severe

congenital anomalies. This study was done with an

objective of analysing the clinical spectrum and outcome

of various anomalies seen at our center.

Twenty infants and children having various defects

of diaphragm managed over a period of 3 years (Jan.

'1994 to Dec. '1997) are reported. There were 16 males

Congemtal anomalies ofthe diaphragm and its various

es arc not uncommon in children. These lI1clude

nolateral hernia of Bochdalek, the substernal

of \lorgagni and various degrees of eventration

parahSiS of the diaphragm. In some cases, part of the

eh may hemiate through a lax esophageal hiatus,

rng a hiatus hernia which mayor may not be

lat,'(l\,ith GER. A Boehdalek hernia is one of the

Important and eoounon surgically correctable cause

pirato'} distress in the newborn. Despite advanccs

the diagnosis and treatment of birth defects, there

Ihr Dilision of Pediatl'ic SUI'gel)', Department of Surgel)'. Gn"t. MedicI]) College, Jammu (J&K) lndja.6rmJlI.HIdcncl' to : Dr. Nasib C. Digray, Consultant Neonatal & Pediatric Surgeon, Govt. Medical College, Jammu- J80 00 I.

to confirm the diagnosis of CDH, whereas COni

studies were done on two occasions in child

presenting later on. The presence of HII-GER

diagnosed on barium studies. One ofthcse infanlsh

large air fluid level on CXR due to intra-thora

stomach. Barium meal in this patient revealed a p<m

volvulus of the stomach in the posterior mediastin

In one patient ofCDE, the GV was confirmed on bari

study. Operative findings in cases of CDH releale

defect of 4 to 6 cms. in the postero-Iateral aspect of

diaphragm with varying lengths ofsmall and largebcn

stomach, left lobe of liver in all cases and in 3 C'

spleen was also seen in the chest cavity. The repair

the defect was possible without any prosthetic graft

difficulty in closing the abdominal cavity. In 2 pati

ofCDH, the posterior leafofthe diaphragm was misl

and Gerota's fascia was used to reinforce the posten

limit of the diaphragmatic defect. Left lung was gross

hypoplastic in 2 cases with just a tongue of tissue at

thoracic apex. All patients of CDE could be plical

easily except in I who had recurrent eventrati

following surgery 3 years back. Similarly one pati

who had ]-]H-GER after repair of CDH, presentet

difficulty due to adhesions around the left side ofcard;

esophageal junction. Two newborns with CDH, whoh

severe hypoplasia of the lung, died of respiratory fail,.

in the post-operative period. Another newborn died

septicemia. One patient of GV died pre-operatileh

possibly because of gastric necrosis leading t

hypovolemic shock. Interestingly no major congenital

anomalies ofany other system were found in these babi~

All the surviving patients ofCDHlCDE are free of an)

recurrence, whereas, those ofHH-GER are free of the'

symptoms and are thriving well after four months to three

years of follow up.

Results

and 4 females in this study. The age and etiology of

various congenital anomalies of the diaphragm (CAD)

are sho\\n in table I. The clinical presentation was

closely related to the age and the cause of the

diaphragmatic defect. All newborns presented with

respiratory distress (RD) due to CDH. Patients ofCDE

and thosc ofCDH, presenting later than neonatal period

and those with hiatus hernia, had recurrent respiratory

tract infections (RTI), failure to thrive, and symptoms in

all these patients could be traced to early infancy. A

combination of symptoms were present in significant

number of patients as shown in table 2. Two patients of

CDE and I patient \\ ith HH had gastric volvulus (GV).

Table 2 depicts the clinical findings in various patients

of CAD in this study. In one patient ofCDE, the defect

was recurrent whereas in another patient HH-GER

occurred 6 months after repair of CDE. Diagnostic

investigations in these children were: abdomen and chest

x-ray (AXR-CXR), barium esophagogram and arterial

blood gas analysis where ever possible. All patients

except one of GV, who di~d in the preoperative period,

\\ere operated through left subcostal trans-abdominal/

midline incision. Repair of the diaphragmatic defect!

plication of CDE was done with or without intercostal

drainage (ICD) in patients ofCDH and CDE. Patients of

IIII-GER were treated by Nissen's fundoplication (Loose

wrap). In two patients (CDE I, HH-GER I) who had

gastric volvulus, anterior gastropexy was done in addition

to fundoplication. Various surgical procedures done for

CAD are shown in table 3.

The diagnosis of CAD was established in all patients

with clinical data and supplementary radiological

\\orkup. All cases ofCDH and CDE in our study were

on the left side. In newborns, AXR-CXR were sufficient

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17 Vol. I 0.2, April-June 1999

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associated with betler survival (5,6). The use of

intercostal drainage (ICD) after repair of COl-I is

debatable and some workers even suggest bi lateral ICD

to avoid the chance ofcontralateral pneumothorax which

is reported in 7 to 20% of the patients with considerable

mortality (7). Post-operatively, it is mandatory to

carefully monitor the patients of CDH to avoid the

various complications (pneumothorax, respiratory

failure, pulmonary hypertension and persistent

fetal circulation) and early mortality. A ventilatory

support, use of vaso-dilator drugs and extra-corporeal

membrane oxygenator (ECMO) may be required to

reverse pulmonary hypertension and persistent fetal

circulation (PFC). Inspite of these advancements in

management, CDI-I still remains a potentially lethal

congenital anomaly. The mortality rates for babies who

are live born and become symptomatic within 6 hours of

life remains at 50%, while those who present after 24

hours of birth have a 100% chance of survival (8).

Although, survival rates may be improved by 10-15%

through high frequency ventilation and ECMO in early

presentation group, some of these babies, because of

severe pulmonary dysplasia are unsalvageable even with

these modalities (9, 10). Lung transplant may prove to

be a potential treatment of such babies using ECMO as

a bridge to transplant (II). Fetal surgery, wh ich is still in

experimental and infancy stage, may provide the much

needed solution (12).

The other anomaly affecting the diaphragm is

eventration. It has been defined as "an abnormally high

or elevated position of one leaf of the diaphragm as a

result ofparalysis, aplasia or atrophy ofvarious degrees

of the muscle fibres" (13). CDE is a developmental

abnormality due to partial/no muscularization ofseptulll

transversum frolll the myotomes of the adjacent body

011 "one of the commonest causes of respiratory

~ in neonates. The incidence ofthis anomaly varies

I~UOO to 5000 live births with a greater incidence

0111, and abOltions (I). Embryologically, the most

on type of the CDH (Posterio-Iateral hernia of

Ie,) occurs becuase of fai lure ofpleuro-peritoneal

to close. The exact etiology of congenital

ragmalic hernia is not known, however, vitamin A

.nc) and lise ofdrugs like Phenmetrazine, Quinine,

dlmlde. Bendectine and Nitrophen have all been

",d for this (I). Posterio-Iateral defects account

"to R5% of CDII and m'e more common on left

\ hereas left sided defects are more common and

nI n1 neonates, the right sided defects present late

,rchildren. Bilateral defects are rare (I %) and are

"Ial (2). E,c1ud ing malrotation and patent ductus

u~. the incidence of the associated anomalies is

ten 10 to 20%. and it may rise to 95% in still born

Iample' card iac d'efects, such as, Cantrall's

logy may be present. Diagnosis of CDH is not

.ult.·\ careful examination of the baby will reveal

.Iure, of respiratory distress, scaphoid abdomen

"eased antero-posterior diameter of the chest. A

\\R.'CXR is classical with loops of intestines in

,milhorax, absence of hemidiaphragm on the

,Jslde "ith paucity ofabdominal gas shadows and

1"llIlal shift. With increasing use of prenatal

'und. the diagnosis of CDI-I may be detected in

11). Once the diagnosis of CDI-I is made', the

.nt IS surgical after resuscitation and stabilization

baby It has been secn that improvement in pre­

'IIeartcrial blood gas (pl-l>7.2, PaC02<50 mm of

dPa02> I00 111m Hg) and alveolar-arterial oxygen

,ence (A-aD02) of less than 500 mm of Hg are

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.\pril June 1999 18

0212

04.

12

04

02 02

06 06 02

Clinical PresentationRTI Failure to

Thrive Abd

Diagnosis

CDH CDE HH-GER

08

08

RD

Table 1. Age and etiology of CAD ( n = 20

Age

Table 2. Clinical Presentation of CAD ( n =

Table 3. Operative Procedures & Results ofC

(n =19**)

Diagnosis

CDH

CDE

HH-GER

Newborn 08 08

Infants 02 03 05

1-3 years 02 01 OJ

3-6 years 04 04\

Total: 10 06 04 20

Total:

a separate embryological basis. The time of pre

and outcome of these anomalies is primarily re

the severity of the defect. Diaphragmatic hernil

most common ofthese anomalies with prognosisrelated to the factors like, the age of patient, se,pulmonary dysplasia and associated anomalies.HH carry a good prognosis as evidenced by

results.

Diagnosis Operation No. of Resultscases

CDH Repair± ICD 10 3 Newborns died(Resp. failurc=2,Septicemia=l)

CDE Plication· 05(1)-- All survived

HH-GER Nissen 04 All survivedfundoplication*(Loose wrap)

*Gastropexy was added in 2 palients with gastric volvulus.··One patient of gastric volvulus died preoperatively.

wall (14, IS). It is a rare disorder with 3 cases affecting

every 10,000 neonates (16). Male and left sided

predominance is noted. Associated anomalies may be

present in a significant number ofcases, the commonestbeing the cardiac and chromosomal, which have a strongbearing on the outcome of treatment. All symptomaticpatients require surgery through laparotomy/thoracotomy

approach.

Hiatus hernia in a child may be due to congenital or

acquired causes. The congenital type is rare, whereas,

the acquired one may occur in 5.9 to 16.8% of cases,

mainly after Nissen's fundoplication for GER. The causemay be disruption of the repaired crura, or constantpressure ofgastric fundus on diaphragnl. An added factormay be peri-esophageal dissection (17-19). Congenitally

lhe hiatal structures including diaphragm, gastro­

esophageal ligaments along with gastrocolic and

gastrosplenic attachments may have varying degree of

weakness potentiated by contributory factors like: high

intra-gastric pressure in the presence of pyloricnarrowing, gastric redundancy and the effects ofnegativeintra-thoracic pressure (19). Hiatus hernia may beasymptomatic which suggests the possibility of

spontaneous intermittent reduction. A careful history and

high degree of clinical suspicion is needed in patients

with recurrent RTl, regurgitation offeeds and failure to

thrive to rule out HH. A chest X-ray and upper GI series

are essential to reach at the diagnosis. Endoscopy may

be needed to supplement radiological investigations ("18).The current surgical treatment of HH in infancy andchildhood is laparotomy, proper inspection of upper GI

tract, reduction of hernial contents, careful dissection of

gastro-esophageal j unction, narrowing of crura, partial

or complete excision ofthe hernial sac and an anti-reflux

procedure. Some authors recommend anterior gastropexyto decrease the possibility of recurrence ofHH (20)..

In conclusion, we believe that congenital anomaliesof diaphragm present a spectrum ranging from

diaphragmatic bernia to hiatal defects. Each anomaly has

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