670

Grant

with relatively minor degrees of overtreatment8 and the new

assay methodology will allow further evaluation of this
aspect of congenital hypothyroidism.
Hospital for Sick Children,
Great Ormnond Street,
London WCIN 3JrH

D B GRANT

1 Hulse JA, Grant DB, Jackson D, Clayton BE. Growth, development, and
reassessment of hypothyroid infants diagnosed by screening. BMJ 1982;

284:1435-7.

2 Abusrewil SSA, Tyfield L, Savage DCL. Serum thyroxine and thyroid stimulating hormone concentrations after treatment of congenital hypothyroid-

ism. Arch Dis Child 1988;63:1368-71.

3 Germak JA, Foley TP. Longitudinal assessment of 1-thyroxine therapy for

congenital hypothyroidism. J Pediatr 1990;117:211-9.

4 Sato T, Suzuki Y, Taketani T, Ishiguru K, Nakajima H. Age related change

in pituitary threshold for TSH release during thyroxine replacement
therapy for cretinism. J Clin Endocrinol Metab 1977;44:553-9.
5 Toft AD, Irvine WJ, Hunter WM, Ratcliffe JG, Seth J. Anomalous plasma
TSH levels in patients developing hypothyroidism in the early months after
1131 therapy for thyrotoxicosis. J Clin Endocrinol Metab 1974;39:607-9.
6 Reichlin S, Utiger RD. Regulation of the pituitary-thyroid axis in man: relationship of TSH concentration and concentration of free and total
thyroxine in plasma. J Clin Endocrinol Metab 1967;27:251-5.
7 Rezvani I, DiGeorge AM. Reassessment of the dialy dose of oral thyroxine for
replacement therapy in hypothyroid children. J Pediatr 1977;90:291-7.
8 Frost GJ, Parkin JM. Management of patients with congenital hypothyroidism. BMJ 1985;290:1485-9.
9 Schultz RM, Glassman MS, MacGillvray MH. Elevated threshold for thyrotropin suppression in congenital hypothyroidism. AmJ Dis Child 1980;134:
19-20.
10 Hodges S, O'Malley BP, Northover BN, Woods KL, Swift PGF. Reappraisal
of thyroxine treatment in primary hypothyroidism. Arch Dis Child 1990;65:
1129-32.
11 Nicoloff JT, Spencer CA. The use and misuse of sensitive thyrotropin assays.
J Clin Endocrinol Metab 1990;71:553-8.

Pitfalls in the diagnosis of congenital diaphragmatic hernia

Congenital diaphragmatic hernia (CDH) is a rare anomaly
occurring in one in 3600 live births. If affected fetuses are
taken into account the incidence is increased to one in
2200.' An increasing proportion of these cases are being
diagnosed as a result of routine antenatal scanning. There
remain a significant number of affected patients who present for the first time in the neonatal period and a further
group presenting as older infants or children.

Neonatal diagnosis and pitfalls

The classical presentation of a neonate in respiratory distress, with a scaphoid abdomen, apparent dextrocardia, and
multiple air and fluid filled bowel loops in the left
hemithorax on chest radiography presents no diagnostic
difficulty. Occasionally the chest radiograph is taken before
the passage of swallowed air into the herniated intestine and
will thus demonstrate a radio-opaque hemithorax. The
absence of intestinal gas in the abdomen should provide the
diagnostic clue in these cases.2 In all cases the abdomen
should be included on the radiograph if CDH is suspected.
The existence of a previously normal chest radiograph does
not preclude the diagnosis.3 The defect in the diaphragm
may be plugged by a solid abdominal viscus, for example,
liver, spleen, or omentum.4 The delayed appearance may on
some occasions be related to initially raised intrathoracic
pressure which when lowered allows the abdominal viscera
to enter into the affected hemithorax.5
There is a further group of neonates with delayed appearance of right diaphragmatic hernia associated with group B
streptococcal infection, and neonates with relapsing streptococcal infection should have this diagnosis positively
excluded.6 7 Right sided hernias may present as a pleural
effusion, the obstructed hepatic venous outflow from herniated liver causing vascular congestion and transudation
from the liver surface.4 8 The effusion may compress the
adjacent lung resulting in atelectasis which may mimic
primary pulmonary pathology, or may prevent identification of either the herniated liver or the diaphragm itself.
Ultrasound should establish the diagnosis in these cases.
Paraoesophageal and oesophageal hiatal hernias are generally associated with vomiting rather than respiratory
embarrassment. Large paraoesophageal hernias are usually
identified in the posterior right cardiophrenic region and
easily confirmed on barium studies. The differentiation of
cystic adenomatoid malformation, congenital lobar emphy-

sema, and CDH may present diagnostic difficulty as they

may all present with respiratory distress at or shortly after
birth.""' If the chest radiograph is taken too early the
affected lung in cystic adenomatoid malformation and congenital lobar emphysema may be fluid filled. There are
several diagnostic pointers which assist in establishing the
correct diagnosis. The presence of normal intestinal gas shadows within the abdominal cavity should raise doubts about
the diagnosis of CDH. The position of the tip of the nasogastric tube may be helpful when the stomach lies above the
diaphragm, and in these instances it may be a prognostic
indicator, as the presence of an intrathoracic stomach has
been equated with an adverse prognosis. 2 On rare occasions
air or contrast may be instilled via the nasogastric tube to
determine the position of the stomach and small intestine.
Ultrasound may prove helpful and may demonstrate the
diaphragmatic defect with bowel or, if on the right, liver
passing through. Congenital lobar emphysema usually
involves the upper lobes and the chest radiograph most
commonly shows hyperlucency rather than an appearance
similar to bowel gas shadows.9 There have been reports of
the other congenital bronchopulmonary malformations
being misdiagnosed as CDH, but these reports stress the
importance of careful interpretation of the chest and abdominal radiographs, and if necessary, the use of
ultrasound. 13 14
Eventration is more common on the right, usually contains liver, and is most easily diagnosed by ultrasound.
Occasionally the fine distinction between a partition containing a few strands of muscle, that is, a diaphragmatic
eventration, and a peritoneal sac without striated muscle,
that is, a hernia, may prove difficult even at surgery, but in
such cases the distinction is unimportant.'5
Staphylococcal pneumonia that has progressed to produce
pneumatocoeles may have an appearance on chest radiography that on first inspection mimics CDH.15 Staphylococcal
pneumonia may affect either lung and the bowel gas pattern
will be normal. The clinical presentation will be different
and the presence of earlier films should prove helpful.
Urgent surgery for CDH has been superceded by a period
of preoperative resuscitation and stabilisation which may
extend over several days. 6 The rapid presumptive diagnosis
of CDH remains essential for the correct management to be
instituted. The period of preoperative stabilisation allows
ample time for the definitive diagnosis to be established by
the full range of necessary radiological investigations if
required.

Pitfalls in the diagnosis ofcongenital diaphragmatic hernia

Diagnosis and pitfalls in the older child

The initial impression that CDH is rare beyond the neonatal
period has how been revised. The reported incidence ranges
from 5 to 25% of patients with CDH. 17 18 The wide variety
of symptoms and signs in the older age group compound the
diagnostic difficulty. Recurrent chest infections, acute
respiratory distress, recurrent vomiting, diarrhoea or constipation, and failure to thrive are some of the reported presenting symptoms.'7 18 The clinical signs may be equally
non-specific. The hernias may be intermittent or only
demonstrable in Trendelenberg's position.19 20 Thus the
presence of a normal or previously normal chest radiograph
does not exclude the diagnosis. At least 22 documented
cases of left posterolateral hernia have been reported in the
English literature in patients with previously normal chest
radiographs. 8 The size of the hernia bears no relation to the
severity of the symptoms. The most frequent misdiagnosis
after chest radiography appears to be pneumonia, although
other diagnoses such as pneumothorax, cystic lung bullae,
and gastric volvulus have been reported.'8 21
Careful interpretation of the chest and abdominal radiographs at presentation will, as in the neonatal group, usually
lead to the correct diagnosis. The presence of haustral markings or valvulae conniventes will help identify bowel,
although these may be difficult to appreciate on a supine
film and an erect film may be required. The passage of a
nasogastric tube may enable the correct diagnosis to be
made in left sided hernia when the stomach lies in the chest.
Other imaging modalities which may be helpful include a
barium meal and follow through or barium enema as most
hernias in this group will contain some part of the gastrointestinal tract. Recent reports suggest that Morgagni hernia
more frequently contain bowel than was previously
recognised.'8 Although Morgagni hernia are more likely to
present as a chance finding, the presence of a hollow viscus
increases the likelihood of symptoms. As in neonates, right
sided hernias frequently contain liver and in the older child
may be asymptomatic. Ultrasound may demonstrate the
diaphragmatic defect, if required.22 In both left and right
sided herniation intestinal obstruction or strangulation is a
well reported occurrence.23 24
In both groups the correct diagnosis is nearly always
apparent on close inspection of the presentation radiographs. The most likely diagnostic error is cystic adenomatoid malformatlon in the neonatal group and pneumonia in
the older group. If further investigation is required the
passage of a nasograstric tube may prove helpful in both
groups. If the diagnosis is still not clear an ultrasound in the

671

neonatal group and a barium study in the late presentation

group will establish the diagnosis in most instances.
F GLEESON

Department of Radiology
L SPITZ

Hospital for Sick Children,

Great Ormond Street,
London WCIN IEH

Department of Surgery

1 Butler N, Claireaux AE. Congenital diaphragmatic hernia as a cause of perinatal mortality. Lancet 1962;i:659-63.
2 Singleton EB, Wagner ML, Dutton RV. Radiologic atlas of pulmonary
abnormalities in children. Philadelphia: WB Saunders, 1988.
3 Faure C, Sauvegrain J, Bomsel F. Right-sided congenital diaphragmatic
hernia with delayed radiological manifestations. Ann Radiol (Paris) 1971;
14:305-13.
4 Blank E, Campbell JR. Congenital posterolateral defect iv the right side of the
diaphragm. Pediatrics 1976;5:807-10.
5 McClead RE, Graham M, Fletcher BD. Postnatal appearance of diaphragmatic hernia. Am J Dis Child 1978;132:1137-8.
6 Ashcraft KW, Holder TM, Amoury RA, et al. Diagnosis and treatment of
right Bochdalek hernia associated with group B streptococcal pneumonia
and sepsis in the neonate. J Pedtr Surg 1983;18:480-5.
7 McCarten KM, Rosenberg HK, Borden S, Mandell GA. Delayed appearance
of right diaphragmatic hernia associated with group B streptococcal
infection in neonates. Pediatr Radiol 1981;139:385-9.
8 Chilton HW, Chang JHT, Jones MD, Brooks JG. Right-sided congenital
diaphragmatic hernia presenting as pleural effusions in the newborn:
dangers and pitfalls. Arch Dis Child 1978;53:600-3.
9 Heji HA, Ekkelkamp S, Vos A. Diagnosis of congenital cystic adenomatoid
malformation of the lung in newborn infants and children. Thorax 1990;45:
122-5.
10 Belanger R, Fleche LR, Pickard JL. Congenital cystic adenomatoid malformation of the lung. Thorax 1964;19:1-11.
11 Nishibayashi SW, Andrassy RJ, Wooley MW. Congenital cystic adenomatoid
malformation: a 30-year experience. J Pediatr Surg 1981;16:704-6.
12 Goodfellow T, Hyde I, Burge DM, Freeman NV. Congenital diaphragmatic
hernia: the prognostic significance of the site of the stomach. BrJ Radiol

1987;60:993-5.

13 Muayed R, Azmy AF, Fyfe AHB, Cochran W. Congenital cystic adenomatoid

malformation of the lung. Potential diagnostic pitfall. Surgery In Infancy
And Childhood 1986;41:107-8.
14 Bailey PV, Tracy T, Connors RH, deMello D, Lewis JE, Weber TR.
Congenital bronchopulmonary malformations. J Thorac Cardiovasc Surg

1990;99:597-603.
15 Bonham Carter RE, Waterston DJ, Aberdeen E. Hernia and eventration of
the diaphragm in childhood. Lancet 1962;i:656-9.
16 Tibboel D, Bos AP, Pattenier JW, Hazebroek FWJ, Mader N, Molenaar JC.
Pre-operative stabilisation with delayed repair in congenital diaphragmatic
hernia. Z Kinderchir 1989;44:139-44.
17 Newman BM, Afshani E, Karp MP, Jewett TC, Cooney DR. Presentation of
congenital diaphragmatic hernia past the neonatal period. Arch Surg 1986;
121:813-6.
18 Berman L, Stringer DA, Ein S, Shandling B. Childhood diaphragmatic
hernias presenting after the neonatal period. Clin Radiol 1988;39:237-44.
19 Hight DW, Hixson SD, Reed JO, Watts FB, Hertzler JH. Intermittent
diaphragmatic hernia of Bochdalek: report of a case and literature review.
Pediatrics 1982;69:601-4.
20 Booker PD, Meerstadt PWD, Bush GH. Congenital diaphragmatic hernia in
the older child. Arch dis Child 1981;56:253-7.
21 Berman L, Stringer D, Ein SH, Shandling B. The late presenting paediatric
Bochdalek hernia. J Pediatr Surg 1988;23:735-9.
22 Merten DF, Bowie JD, Kirks DR, Grossman H. Anteromedial diaphragmatic
defects in infancy: current approaches to diagnostic imaging. Pediatr Radiol
1982;142:361-5.
23 Wooley MM. Delayed appearance of a left posterolateral diaphragmatic hernia
resulting in significant small bowel necrosis. J Pediatr Surg 1977;12:673-4.
24 Campbell DN, Lilly JR. The clinical spectrum of right Bochdalek's hernia.
Arch Surg 1982;117:341-4.