Syndromic presentation of a pleuropulmonary blastoma associated with congenital cystic adenomatoid malformation. A case report

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Abstract

Pleuropulmonary blastoma (PPB) is a rare malignant mesenchymal pediatric tumor with a well-recognized association with congenital cystic adenomatoid malformation (CCAM). Recently, it has been described in a patient with CCAM, multiple jejunal polyps, and cystic nephroma. We describe a similar case of a unique presentation of PPB, arising in association with CCAM and with a history of intussception caused by multiple small bowel polyps.

Section snippets

Case report

This male child was born at 38 weeks of gestation by spontaneous vertex delivery and had respiratory distress at birth. An ultrasound performed at 35 weeks of gestation revealed the presence of right pulmonary cysts. Computerized tomography scan of the thorax after birth revealed multiple large cysts in the right lung and few cysts in the left lung (Fig. 1). He underwent right middle lobectomy on the fifth day of life. The pathology was consistent with CCAM type 4 (Fig. 2A, B).

The baby was

Discussion

Pediatric intrathoracic neoplasms with mixed blastematous and sarcomatous characteristics arising in association with preexisting cystic lung lesions were recognized for the first time as PPB by Manivel et al [5]. Subsequently, single case reports [6] and large series described in detail the clinical and pathological features of PPB [7].

Studies assessing the malignant potential of CCAM have shown that type 4 CCAMs can have focal stromal hypercellularity and subsequently may develop a PPB [8].

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