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doi:10.1111/jpc.12477

ORIGINAL ARTICLE

Congenital chylothorax: Associations and neonatal outcomes

Lilian Downie,1 Arun Sasi1 and Atul Malhotra1,2
1
Monash Newborn, Monash Medical Centre and 2Department of Paediatrics, Monash University, Melbourne, Victoria, Australia

Aim: Congenital chylothorax is a rare but significant neonatal entity with major morbidity and mortality. The study aims to describe the related
associations, management and outcomes of this condition in neonates.
Methods: This is a retrospective case series of all cases of congenital chylothorax admitted to a tertiary neonatal centre in the last 15 years.
Results: Ten cases of congenital chylothorax were identified. Eight infants were diagnosed antenatally and three infants had antenatal pleural
drainage. Most infants were ventilated at birth and required immediate pleurocentesis. Post-natal management included drainage of fluid,
ventilation, albumin replacement, octreotide and dietary modification with medium-chain triglyceride-enriched formula. Five infants had chro-
mosomal aberrations identified, while a further two had dysmorphic features not substantiated with routine genetic testing. Noonan’s syndrome
was the single most common underlying genetic diagnosis. Associated anomalies and malformations were present in 80% of the cohort. There
were two deaths in the series, both in infants with multiple co-morbidities.
Conclusions: Congenital chylothorax is a rare condition with overall prevalence of less than a case per year in our experience. Majority of
infants had associated chromosomal anomalies and significant co-morbidities needing prolonged intensive care.
Key words: chylothorax; genetic; hydrops fetalis; neonate.

What is already known on this topic What this paper adds

1 Congenital chylothorax is a rare neonatal condition associated
with significant morbidity and mortality.
2 Congenital chylothorax is the most common cause of pleural
effusion in a neonate.
3 Management of chylothorax is variable in different settings.
1 Congenital chylothorax is often associated with chromosomal
anomalies, hydrops fetalis and other malformations.
2 Most infants are managed conservatively with pleurocentesis,
diet modifications and drugs like octreotide.
3 A structured algorithm for antenatal and postnatal diagnosis is
proposed for management of this condition.

Chylothorax characterised by accumulation of chyle in the
pleural space is a potentially life-threatening condition with
possible metabolic, nutritional, immunological complications, as
well as respiratory distress in newborn infants.1 It is the most
common cause of pleural effusion causing respiratory distress in
neonates.2 It can be either acquired most often as postoperative
complication, or congenital as an isolated finding or associated
with chromosomal anomalies, congenital malformations and
disorders of the lymphatic system.3 The word ‘chyle’ originates
from the Latin word ‘juice’ and is applied to lymph of intestinal
origin. It is a milky fluid composed of fats, immune cells and
proteins with electrolyte composition similar to serum.4 The
survival rate of neonates with congenital chylothorax is highly
variable and is dependent on other co-morbidities.5 Manage-
Correspondence: Dr Atul Malhotra, Monash Newborn, Monash Medical
Centre, Monash University, 246 Clayton Road, Clayton, Vic. 3168, Australia.
Fax: +61 39594 6115; email: atul.malhotra@southernhealth.org.au
Conflict of interest: None declared.
Accepted for publication 12 August 2013.
ment practices vary among neonatal units and treatment ranges
from diet modifications, medications to surgical intervention.
This paper aims to describe our experience of management of
congenital chylothorax at a single perinatal centre with empha-
sis on the associations and outcomes of this rare but significant
clinical entity, and propose a clinical algorithm for its treatment.
Methods
The study is a retrospective review of all cases of congenital
chylothorax admitted to a tertiary level perinatal and neonatal
unit in suburban Melbourne, Australia, in the last 15 years
(1997–2012), with approximately 4500 deliveries per annum.
We describe the causes, associations, clinical course and
management of these cases. We intend to propose a clinical
management algorithm for this rare condition based on our
experience.
Neonatal database is a prospective electronic database main-
tained by the unit on Microsoft SQL platform (Microsoft Pty Ltd,
Sydney, Australia) as part of the Australia New Zealand Neona-
tal Network (ANZNN). The database is managed by dedicated

234 Journal of Paediatrics and Child Health 50 (2014) 234–238

© 2013 The Authors
Journal of Paediatrics and Child Health © 2013 Paediatrics and Child Health Division (Royal Australasian College of Physicians)
L Downie et al. Congenital chylothorax

staff with prospective entry of all clinical data as defined by the

chylopharyngeal fistula
Lymphatic malformation,
JMML, lymphangiectasia

JMML, lymphangiectasia
renal tubular acidosis
Laryngomalacia, absent
ANZNN.6 This database was accessed to analyse all infants

Chronic lung disease,

Persistent pulmonary
Associated problems
admitted with a diagnosis of ‘chylothorax’ or ‘pleural effusion’.

corpus callosum

laryngomalacia
Renal pyelectasis

hypertension,

Hypothyroidism
Infants who had pleural effusion other than chylothorax, or
when the effusion was treated conservatively (no pleural drain-
age done), were excluded from the study, as were infants who
suffered chylothorax as a complication of surgery. The diagnosis

–
of chylothorax was made using both of the following criteria1:

Outcome
1 Pleural effusion identified antenatally by ultrasound or at

Alive
Alive

Alive

Alive
Alive

Alive

Alive
Alive
Died

Died
birth by chest radiograph.
2 Analysis of pleural fluid (antenatally or post-natally) with

feeds
MCT
triglyceride level >1.2 mmol/L or cell count >1000 cells/μL

Yes

Yes

Yes

Yes

Yes

Yes

Yes
No

No

No
with a predominance of lymphocytes.

Hypoalbuminaemia
Data were collected about the demographic details, antenatal,
perinatal and post-natal characteristics of the infants and asso-
ciated anomalies. Information about medical, surgical and
dietary management of the infants was also collated. The study

Yes

Yes
Yes

Yes

Yes

Yes

Yes

Yes
No

No
qualified as a quality assurance project under the hospital ethics

Octreotide
research framework. Descriptive statistics were performed on
demographics and clinical outcomes. The data are expressed as

Yes

Yes

Yes
No

No

No
No

No

No
No
numbers or percentage.

syndrome

syndrome

syndrome
Trisomy 21

Trisomy 21
anomalies

Noonan’s

Noonan’s

Noonan’s
Results
Genetic

Nil

Nil
Nil

Nil
Nil

CS, caesarean section; F, female; JMML, juvenile myelo-monocytic leukaemia; M, male; MCT, medium-chain triglyceride; VD, vaginal delivery.
There were a total of 57 755 live births in the study period in the Ventilation/
hospital. Ten infants (seven males, three females), all inborn, drainage
at birth

Yes/Yes

Yes/Yes

Yes/Yes
Yes/Yes
Yes/No

Yes/No

Yes/No

Yes/No
No/No

No/No
were identified with congenital chylothorax in the 15-year
period. This makes an incidence rate of nearly 1 per 5775 live
births. The individual patient characteristics are summarised in
Delivery

Table 1. Majority of infants were born preterm (8/10; 80%)

mode

with gestation ranging from 28 to 40 weeks. The median

VD

VD

VD

VD
CS

CS

CS

CS

CS
CS
birthweight was 2848 g (range 1075–4300 g); hydropic features
were noted in six infants. Six infants were delivered by caesar-
Location

Bilateral

Bilateral

Bilateral

Bilateral

Bilateral

Bilateral
Bilateral
ean section and four by vaginal delivery. Intubation was
Right

Right
Table 1 Congenital chylothorax: perinatal, neonatal details and associated anomalies

Left

required in the delivery room for eight (80%) of these babies

with median APGAR scores of 5 and 8 at 1 and 5 min, respec-
Hydrops

Present

Present

Present

Present

Present

Present
tively. Four infants (40%) underwent drainage of the pleural
fluid during the resuscitation period itself.
Nil

Nil

Nil

Nil
Antenatal diagnosis of pleural effusions was established in
80% (8/10) of all infants, with a median gestation of 31 weeks
Antenatal
drainage

at diagnosis. Of these infants, three (30%) had an in utero

Yes

Yes

Yes
Nil

Nil
Nil

Nil

Nil

Nil

Nil

pleural tap, which revealed features consistent with chyle.

All infants with in utero pleural tapping demonstrated rapid
re-accumulation of fluid. Polyhydramnios complicated the
diagnosis
(weeks)
Age at

antenatal course in three cases (30%), which required

Birth

Birth
28

31

32

24
22

31

36
34

amnioreduction. Six of these eight antenatal diagnosed cases

required prenatal interventions.
Birthweight

Effusions were bilateral in seven infants and there was trend

towards more likelihood of hydrops fetalis when the effusions
2303

3124
1075

4300

3500

2815
2883

2186

2881
2386
(g)

were bilateral (five out of six infants; P = 0.2).

Most of the infants with chylothorax (8/10; 80%) had
Gestation

dysmorphic features or other structural anomalies; Chromo-

(weeks)

somal anomalies were diagnosed in five infants (50%), of whom

36

32
28

40

35

34
34

31

37
34

three were diagnosed with Noonan’s Syndrome and two infants

with Trisomy 21. Two infants had subtle dysmorphic features
Sex

with normal karyotype, whereas three infants were morpho-

M
M

M
M

M
F

logically normal and had normal karyotype.

Case

There were a high proportion of other associated anomalies

1

2
3

6
7

9
10

in the infants. In the infants with Noonan’s syndrome, two of

Journal of Paediatrics and Child Health 50 (2014) 234–238 235

© 2013 The Authors
Journal of Paediatrics and Child Health © 2013 Paediatrics and Child Health Division (Royal Australasian College of Physicians)
Congenital chylothorax
them had features of juvenile myelo-monocytic leukaemia.
Both of them also had a diagnosis of pulmonary lymphan-
giectasia confirmed on lung biopsy. Overall, anatomical lym-
phatic malformations were confirmed in three infants. One
preterm infant suffered from severe chronic lung disease and
also had associated renal tubular acidosis. Laryngomalacia was
diagnosed in two infants while one infant had acquired
tracheobronchomalacia.
Most infants with chylothorax required multiple interven-
tions, including drainage, diet modifications and medications.
None required surgery for treatment. Two infants had only
drainage of fluid as their treatment, while the rest of the infants
had drainage as well as other interventions. Seven infants
(70%) were treated with a medium-chain triglyceride (MCT)-
enriched formula at some stage during their admission. Three
infants were treated with octreotide with definite clinical
response in two cases, while one baby showed no significant
improvement. Hypoalbuminaemia was a common complication
of the condition and albumin replacement was carried out in
80% of the infants.
Overall mortality rate was 20% (2/10), with sepsis as the
primary cause of death. Both infants had major chromosomal
abnormalities and associated pulmonary lymphangiectasia. The
total length of hospital stay varied from 29 to 145 days. Other
complications observed in our case series were pulmonary and
systemic infections, hypogammaglobulinaemia, pulmonary air
leaks and systemic hypotension requiring inotropic support.
One baby in the cohort had chylopharyngeal fistula for which
surgical repair was considered; however, the infant was clini-
cally unstable and unfit for surgery.
Discussion
Chylothorax is characterised by accumulation of chyle within
the pleural space. Pleural fluid is filtered into the pleural space
by both the parietal and visceral pleura and is reabsorbed,
mostly by the lymphatics.1 Fluid accumulation occurs when the
rate of filtration increases, lymphatic clearance decreases or
both. Congenital chylothorax is a rare condition. A review of
literature found a rate of diagnosis of 1 in 7000 to 1 in 10 000.7–9
In our cohort the incidence was approximately 1 in 5800 live
births. There is a suggestion that more infants are being diag-
nosed with this condition as compared with previously reported
literature, mainly due to increase in complex cardiac surgeries
in this population. The incidence may be higher in our centre
due to referral bias as the site is a major fetal intervention
referral unit for the State.
Although rare, congenital chylothorax is the most common
cause of congenital pleural effusion, which is also supported by
the review of our overall rates of pleural effusions. Previous case
studies have found a male predominance,7 which is consistent
with our findings of 70% cases being males. However, all these
reports are based on very small numbers of cases. If the
chylothorax was unilateral, right-sided collection was more
common in this series, as has been reported in literature.10
Congenital chylothorax can occur in isolation or more com-
monly in association with certain genetic syndromes. Noonan’s
Syndrome, Turner’s Syndrome and Trisomy 21 were the most
common associated syndromes with congenital chylothorax.9–11
236
Journal of Paediatrics and Child Health © 2013 Paediatrics and Child Health Division (Royal Australasian College of Physicians)
L Downie et al.
In our series, 80% infants had dysmorphic features; 30% had
Noonan’s syndrome, 20% had trisomy 21, while a further two
infants had subtle dysmorphic features with no genetic diagno-
sis. Other associations noted in literature include primary con-
genital pulmonary lymphangiectasis and primary or secondary
malformations of the thoracic duct.12 In this study, two infants
were diagnosed with pulmonary lymphangiectasia, both in the
context of Noonan’s syndrome. Other congenital malformations
included brain (corpus callosum agenesis), airway abnormalities
(laryngomalacia) and renal pyelectasis. The in-hospital mortal-
ity associated with the condition in our case series was in
patients with a genetic diagnosis and complicated lung pathol-
ogy. This highlights the fact that the outcome for this condition
seems to be heavily reliant on the underlying disorder and
co-morbidities. Also interesting is that death was more common
(2 out of 3) in patients who seemed to have refractory effusions,
needing octreotide infusions.
Fetal hydrops is another complication reported in literature
associated with chylothorax.5,13 Nearly two out of three infants
in our cohort had a diagnosis of fetal hydrops. Even though
presence of hydrops did not alter the overall survival of these
infants, its presence did lead to the need for pleural fluid drain-
age in delivery room and aggressive ventilation in the initial
neonatal period.
The management of chylothorax starts from the antenatal
period. In our series, 50% of infants had some antenatal interven-
tion, which included in utero pleural tap or amnioreduction for
polyhydramnios. The therapeutic benefit of antenatal drainage
relates to resolution of fetal hydrops and prevention of pulmo-
nary hypoplasia and intrauterine fetal death.13 More recently,
intrapleural injection of OK-432 in the fetal period has been
advocated as alternative to the traditional drainage, or pleuro-
peritoneal shunts.14 Also, antenatal confirmation of chylothorax
may aid in the early diagnosis of rare, related conditions.
Postnatal management of chylothorax includes drainage of
pleural collections, mechanical ventilation, replacement of
albumin and globulin loss, prevention of infections, and dietary
modification. Drug therapy with somatostatin and octreotide is
reported in literature with mixed success.15 A Cochrane review
on the role of octreotide in neonates published recently found
insufficient data to support its routine use in the condition and
recommended a large multicentre trial.16 In this study, 30% of
infants were treated with octreotide with improvement or sta-
bilisation in two cases. Pleurodesis by povidone–iodine may
represent another alternative treatment for congenital idi-
opathic chylothorax.17 Its use has generally been limited for
refractory cases where it may decrease the morbidity related to
prolonged ventilation and chest drainage. Surgical manage-
ment with pleural abrasion and pleurectomy has been
advocated by some centres to be an effective alternative for
large, refractory effusions.18 An algorithm for management of
chylothorax based on the experience in our centre is proposed
(Fig. 1).
Nutritional management included total parenteral nutrition
followed by MCT-enriched milk. Seventy per cent of infants in
this series were treated with MCT formula. Generally, a trial of
MCT formula was carried out for a period of 6 weeks, and
further continuation was considered on an individual case-by-
case basis.1,4
Journal of Paediatrics and Child Health 50 (2014) 234–238
© 2013 The Authors
L Downie et al. Congenital chylothorax

Fetal pleural effusion

A
n
t Risk factors for chylothorax
e If lung growth is
n compromised, consider • Chromosomal anomalies
a ultrasound-guided pleural • Lung/ Lymphatic malformations
t tap • Hydrops fetalis
a
l

Delivery room
Anticipate need for advanced resuscitation
Pleurocentesis in case of difficult ventilation
Chylothorax composition
Establish diagnosis of chylothorax pH: 7.4-7.8
Milky colour
Manage underlying condition Sterile
Chromosomal studies High TAG: > 1.2 mmol/L
Investigate for associated Protein: 2-6 g/dL
P malformations, for example, lung Absolute cell count > 1000 cells/ L
o malformation, lymphatic study Lymphocyte: > 80%
s echocardiography, Doppler Presence of chylomicrons or
t Positive Sudan III test
- studies to rule out thrombosis
n
a
t Conservative treatment
a
l Nil by mouth, TPN initially

Pleurocentesis- intermittent tap followed by

continuous drainage in case of rapid re-
accumalation

Medium-chain triglyceride rich formula, for

example, Monogen (enteral feeds are gradually
introduced generally by end of 1 st week)

Drug treatment
Somatostatin or analogues Octreotide
(Starting Dose 3.5 mcg/kg/h i.v. infusion
Maximum: 10 mcg/kg/h; dose is adjusted
based on daily drain output)

Surgical treatment (For refractory cases)

Leak >1- 1.5 L/day or persistent leak or metabolic/
Fig. 1 Management algorithm for congenital nutritional complications despite conservative treatment
Pleurodesis, thoracic duct ligation, pleuro-peritoneal shunt
chylothorax.

Limitations of the study include the small number of cases
due to the relative rarity of the condition. We could not collect
adequate follow-up data for the cohort to merit mention.
In conclusion, congenital chylothorax is a rare but serious
entity in neonates. Majority of these babies require prenatal
interventions, intensive resuscitation and ventilation. The man-
agement of this condition includes drainage of pleural fluid, diet
modifications, drug therapy and rarely surgery. The overall
outcome of this condition is dependent on the underlying
genetic conditions and associated malformations.
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Delivery at Khamir Hospital, Yemen (courtesy of Médecins Sans Frontières) © Agnes Montanari.

238 Journal of Paediatrics and Child Health 50 (2014) 234–238

© 2013 The Authors
Journal of Paediatrics and Child Health © 2013 Paediatrics and Child Health Division (Royal Australasian College of Physicians)