DOI:10.2214/AJR.05.1236
AJR 2006; 187:W133-W134
© American Roentgen Ray Society
Bilateral Pulmonary Sequestration with Bridging Isthmus in a Boy with Williams Syndrome
Richard Kuo,
Shin-Lin Shih and
Jon-Kway Huang
Mackay Memorial Hospital Taipei, Taiwan
Mackay Memorial Hospital and Tapei Medical University Taipei,
Taiwan
A 5-year-old boy presented with cough and intermittent fever for 1 week.
Unusual facial appearances of flat nasal bridge, long philtrum, and wide mouth
were noted during physical examination. A systolic heart murmur at the right
upper sternal border was also found. Echocardiography revealed supravalvular
aortic stenosis. Chest radiography showed a soft-tissue mass superimposed with
cardiac shadow (Fig. 2A). A
chest CT scan revealed a well-defined mass at the medial basal segments of the
bilateral lower lobes with a midline bridging isthmus behind the heart
(Fig. 2B). An MR angiogram
showed that the blood supply of the mass was an aberrant feeding artery from
the celiac trunk (Fig. 2C). A
finding of supravalvular aortic stenosis was also obtained on MR images
(Fig. 2D). Surgical
intervention found a mass crossing the midline. Pathologic findings of the
mass were consistent with pulmonary sequestration. The boy did well after the
surgery. Fluorescence in situ hybridization (FISH) revealed deletion of the
elastin gene located at chromosome 7. The result of the FISH was consistent
with Williams syndrome.
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Fig. 2B —5-year-old boy with Williams syndrome. Contrast-enhanced
chest CT scan revealed well-defined heterogeneous mass at medial basal
segments of bilateral lower lobes with midline bridging isthmus posterior to
heart.
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Fig. 2D —5-year-old boy with Williams syndrome. Gadolinium-enhanced MR
angiogram in sagittal section revealed hourglass deformity of ascending aorta
just above sinus (arrowheads), compatible with supravalvular aortic
stenosis.
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Pulmonary sequestration is defined as a segment of lung parenchyma that
lacks communication with the tracheobronchial tree and receives an aberrant
systemic arterial blood supply. The presence of a bridging isthmus between
bilateral pulmonary sequestrations is extremely unusual. To our knowledge, it
has only been reported once before
[1]. Bilateral pulmonary
sequestrations with a bridging isthmus may mimic a horseshoe lung. Horseshoe
lung is formed from the joining of bilateral lung bases by an isthmus of lung
parenchyma behind the heart. The arterial supplies to the isthmic portion of a
horseshoe lung are almost always the branches from the pulmonary artery
[2]. Most of the reported cases
have been associated with a certain degree of pulmonary hypoplasia
[3]. The feeding artery of the
mass in our case turned out to be an arterial branch from the celiac trunk.
Although there are a few reported cases of horseshoe lung in which the isthmus
is supplied by both pulmonary and aortic branches
[2], the boy did not have the
anomalies associated with hlorseshoe lung. So the diagnosis of bilateral
pulmonary sequestrations with a bridging isthmus is more favored than
horseshoe lung.
Williams syndrome is a rare genetic condition with clinical manifestations
of distinctive elfin face, mental retardation, friendly behavior, and
congenital cardiovascular anomalies. Deletion of chromosome band 7 that
includes the elastin gene is identified as present in about 95% of individuals
with Williams syndrome. The commonly associated anomalies include
supravalvular aortic stenosis, pulmonary artery stenosis, coronary artery
stenosis, and mitral valve prolapse
[4]. To our knowledge, the
association of Williams syndrome with bilateral pulmonary sequestration has
not been described previously. But the association may just be
coincidental.
References
- Cerruti MM, Marmolejos F, Cacciarelli T. Bilateral intralobar
pulmonary sequestration with horseshoe lung. Ann Thorac
Surg 1993; 55:509
-510[Abstract]
- Goo HW, Kim YH, Ko JK, Park IS, Yoon CH. Horseshoe lung: useful
angiographic and bronchographic images using multidetector-row spiral CT in
two infants. Pediatr Radiol 2002;32
: 529-532[CrossRef][Medline]
- Lutterman J, Jedeikin R, Cleveland DC. Horseshoe lung with left
lung hypoplasia and critical pulmonary venous stenosis. Ann Thorac
Surg 2004; 77:1085
-1087[Abstract/Free Full Text]
- Bruno E, Rossi N, Thuer O, Cordoba R, Alday LE. Cardiovascular
findings, and clinical course, in patients with Williams syndrome.
Cardiol Young 2003;13
: 532-536[Medline]
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