Identical twins concordant for pulmonary sequestration communicating with the esophagus and discordant for the VACTERL association

Abstract

Communicating bronchopulmonary foregut malformations (CBPFMs) are unusual congenital structures composed of a segment of lung tissue connected to the foregut. We present what we believe is the first reported case of identical twins concordant for CBPFM who are discordant for the VACTERL association. Their nonfunctional lung tissue was successfully removed and the fistulae were corrected, and they are expected to live normal life spans. We review the literature concerning these malformations and the proposed theories of their etiology. This case report of concordance in identical twins suggests that a possible genetic component to CBPFMs cannot be ruled out. The discordance for the VACTERL association implies that the etiology is most likely multifactorial.

Non‐identical monozygotic twins, intermediate twin types, zygosity testing, and the non‐random nature of monozygotic twinning: A review

“…Both concordance and discordance for common neoplasms (breast, colon, prostate, lung) are known in MZ twins. Concordance for neoplasia is one of the [Becker et al, 2005;Camacho et al, 2008] and vasculogenic fetal akinesia [Ho, 2000]. It seems likely that these anomalies (as well as flow-type congenital hearts defects) are caused by temporary hypotension/hypoperfusion of major territories as the result of twin transfusional events that do not develop into TTT.…”

Discordance in twins for esophageal atresia with tracheoesophageal fistula

“…Report of cases related to p53 mutations and retinoblastoma might suggest a possible mechanism for multiple primary tumors. 5 The tumor sample of our patient did not show p53 mutation on immunohistochemistry thereby favoring a primary tumor with metastases at presentation rather than multiple primaries. In the present case, the location and radiology of the second tumor occurring 5 months after completion of therapy favors a type IIIA early metachronous tumor.…”

“…The developmental defects or environmental factors may be more important in the etiology than genetically transmitted factors is further supported by the fact that there is low incidence of EA in both members of twins despite the otherwise high frequency of EA in twins 2 . There are number of reports which show discordance amongst twins for VACTERL and other congenital anomalies 5,6 . The plausible mechanisms for increased risk of congenital anomalies in multiple births are lack of sufficient blood supply, crowded intrauterine room leading to positional defects, increased use of fertilization and reproductive techniques accounting for increased chances of spontaneous mutations and birth defects 7 .…”

Prenatal diagnosis of esophageal bronchus — first report of a rare foregut malformation in utero

“…To date, no predisposing factors have been identified in the etiology of CBFMs, although the observed concordance of this lesion in a case of conjoined twins argues in favor of an underlying genetic predisposition [11]. Associated anomalies are frequent, with lung lesions including sequestrations and hybrid lesions [5,12] representing the most common associated anomaly, while foregut malformations such as esophageal and duodenal atresia, duodenal stenosis and distal tracheoesophageal fistula occur less frequently [5,[13][14][15].…”