Congenital malformations - Edocr

168 PART IV RESPIRATORY MALFORMATIONS
considered for undiagnosed mild cases of Noonan
syndrome.
MANAGEMENT AND PROGNOSIS
Management of these patients is typically supportive
in nature, with mechanical ventilation
for respiratory failure, pleural drains, and replacement
of fluids as needed. A diet rich in
medium-chain triglycerides and total parenteral
nutrition have been found to decrease formation
of the chylous effusion. 4 Antiplasmin and
octreotide have been used to reduce lymphatic
losses in intestinal lymphangiectasia, but have
not been evaluated in congenital pulmonary
lymphangiectasia. 4 Surgical procedures such as
pleurodesis and pleuroperitoneal shunts have
been used for intractable pleural effusions.
Mortality from congenital pulmonary lymphangiectasia
was previously thought to be 100%
in the neonatal period. However, with improved
neonatal intensive care management, this is no
longer thought to be a universally fatal disease.
A number of cases describing survival beyond
infancy have been reported. 7,8,17,18
An improvement in respiratory status during
infancy and childhood has been reported in
most long-term survivors, with many of these
patients having only minimal symptoms by the
age of 6 years. 4 Some patients, however, continue
to have recurrent respiratory problems for
the first several years of life. 4,17,19 Common
symptoms include recurrent cough and wheeze
that is variably responsive to bronchodilators,
increased sensitivity to respiratory infection and
multiple hospitalizations; a few patients are reported
to require home supplemental oxygen
for a period of time. 4 While the pleural effusions
eventually resolve, chest x-rays continue
to show hyperinflation with stable or decreasing
interstitial markings. 4 Other medical problems
that occur in long-term survivors include
gastroesophageal reflux and poor growth in the
first few years of life; with resumption of normal
growth pattern by age 3 years. 4,19
GENETIC COUNSELING
Since congenital pulmonary lymphangiectasia
has no known definitive genetic basis, the recurrence
risk is unknown and has not been reported
to our knowledge. However, the recurrence risk
in subsequent pregnancies is considered to be
higher than in the general population and could
be as high as 25% due to undiagnosed autosomal
recessive disorders in the index pregnancy.
Future pregnancies should be closely monitored
by serial ultrasound for early detection of pleural
effusions. Genetic counseling for families of infants
with a known syndrome or chromosomal
anomaly should be based on recurrence risk of
the syndrome or anomaly itself.
REFERENCES
1. Noonan JA, Walters LR, Reeves JT. Congenital
pulmonary lymphangiectasis. Am J Dis Child.
Oct 1970;120(4):314–9.
2. White JE, Veale D, Fishwick D, et al. Generalised
lymphangiectasia: pulmonary presentation in an
adult. Thorax. Jul 1996;51(7):767–8.
3. Wagenaar SS, Swierenga J, Wagenvoort CA. Late
presentation of primary pulmonary lymphangiectasis.
Thorax. Dec 1978;33(6):791–5.
4. Esther CR, Jr., Barker PM. Pulmonary lymphangiectasia:
diagnosis and clinical course. Pediatr Pulmonol.
Oct 2004;38(4):308–13.
5. France NE, Brown RJ. Congenital pulmonary lymphangiectasis.
Report of 11 examples with special
reference to cardiovascular findings. Arch Dis Child.
Aug 1971;46(248):528–32.
6. Laurence KM. Congenital pulmonary lymphangiectasis.
J Clin Pathol. Jan 1959;12(1):62–9.
7. Chung CJ, Fordham LA, Barker P, et al. Children
with congenital pulmonary lymphangiectasia: after
infancy. AJR Am J Roentgenol. Dec 1999;
173(6):1583–8.
8. Nobre LF, Muller NL, de Souza AS Jr., et al. Congenital
pulmonary lymphangiectasia: CT and
pathologic findings. J Thorac Imaging. Jan 2004;
19(1):56–9.
9. Moerman P, Vandenberghe K, Devlieger H, et al.
Congenital pulmonary lymphangiectasis with chylothorax:
a heterogeneous lymphatic vessel abnormality.
Am J Med Genet. Aug 1993;47(1):54–8.