“…The first child 2 died at age 4 months; the other 3 died prenatally. Similar cases were described by Drut et al, 4 Vilanova et al, 5 and Chen et al 6 As was the case with our patient, the infants were female. Only two cases have been described in male patients.…”
Interstitial proliferation of striated muscle in the lung is extremely rare. Most cases are associated with other congenital malformations, such as lung sequestration, diaphragmatic hernia, or cardiac malformations. We describe a newborn with rhabdomyomatous dysplasia of the lung associated with multiple congenital malformations of the heart and great vessels. The female neonate was born at 37 weeks of gestation as the second child to a 31-year-old woman without relevant previous medical or family history. In week 26 of gestation, a complex heart malformation and polyhydramnion were diagnosed by ultrasound. Postnatally, right lung hypoplasia, a bilobar right and left lung, anomalous drainage of the pulmonary veins, atrial and ventricular septal defects, and double-outlet right-ventricle and multiple aortopulmonary collaterals were described. Histological examination of a biopsy of the right lung demonstrated the presence of numerous bundles of striated muscle fibers arranged randomly in the pulmonary interstitium. Unilateral resection of the right lung was not a therapeutic option, because the left lung had developed bronchopulmonary dysplasia with severe reduction in gas exchange as a consequence of long-term mechanical ventilation. Symptomatic relief and palliative cardiac surgery were offered. At age 5 months, the infant died of a pulmonary hemorrhage following cardiac surgery.
“…The first child 2 died at age 4 months; the other 3 died prenatally. Similar cases were described by Drut et al, 4 Vilanova et al, 5 and Chen et al 6 As was the case with our patient, the infants were female. Only two cases have been described in male patients.…”
Interstitial proliferation of striated muscle in the lung is extremely rare. Most cases are associated with other congenital malformations, such as lung sequestration, diaphragmatic hernia, or cardiac malformations. We describe a newborn with rhabdomyomatous dysplasia of the lung associated with multiple congenital malformations of the heart and great vessels. The female neonate was born at 37 weeks of gestation as the second child to a 31-year-old woman without relevant previous medical or family history. In week 26 of gestation, a complex heart malformation and polyhydramnion were diagnosed by ultrasound. Postnatally, right lung hypoplasia, a bilobar right and left lung, anomalous drainage of the pulmonary veins, atrial and ventricular septal defects, and double-outlet right-ventricle and multiple aortopulmonary collaterals were described. Histological examination of a biopsy of the right lung demonstrated the presence of numerous bundles of striated muscle fibers arranged randomly in the pulmonary interstitium. Unilateral resection of the right lung was not a therapeutic option, because the left lung had developed bronchopulmonary dysplasia with severe reduction in gas exchange as a consequence of long-term mechanical ventilation. Symptomatic relief and palliative cardiac surgery were offered. At age 5 months, the infant died of a pulmonary hemorrhage following cardiac surgery.
“…The finding of striated muscle fibres in the lung is a rare occurrence, mainly seen in benign or malignant tumours of the lung 9 . Only a few reports of nontumoral rhabdomyomatosis of the lung have been described [1][2][3][4][5][6]8,[10][11][12][13][14][15] . Clinical and pathological data of patients with rhabdomyomatosis of the lung are summarized in Table 1.…”
Section: Discussionmentioning
confidence: 99%
“…Some authors favour the theory of rhabdomyoblastic metaplasia or differentiation of primitive undifferentiated potential mesoblastic cells from the lung mesenchyma, life 2,15 . Other authors regard the presence of striated muscle fibres in the lung as a developmental error 1,5,14 . Thus, if a displacement from the pulmonary bud occurs in earlier stages of development, before the separation of the bud from the oesophagus is completed, fragments of the oesophagic striated muscle cells could be incorporated into the lung parenchyma.…”
Section: Discussionmentioning
confidence: 99%
“…Thus, if a displacement from the pulmonary bud occurs in earlier stages of development, before the separation of the bud from the oesophagus is completed, fragments of the oesophagic striated muscle cells could be incorporated into the lung parenchyma. This theory would be supported by the occasional association of congenital diaphragmatic hernia with the presence of skeletal muscle fibres in the lung parenchyma [2][3][4][5] . The possibility that the striated muscle cells in the lung could be of cardiac origin has been also postulated.…”
Section: Discussionmentioning
confidence: 99%
“…The presence of non-neoplastic striated muscle fibres in the lung is an exceedingly rare congenital malformation with few cases reported in the literature. Most cases have been associated with underlying developmental anomalies, including extralobar and intralobar pulmonary sequestration [1][2][3][4] , congenital diaphragmatic hernia [2][3][4][5] , and cystic adenomatoid malformation of the lung [6][7][8] .…”
The presence of striated muscle fibres in the lung not necessarily represents a lethal congenital malformation. As this case shows, rhabdomyomatosis of the lung can affect a single pulmonary lobe, and resection of the affected lung parenchyma may be curative. It is important for pathologists to be aware of this entity, although it is exceptional, and to include it in the differential diagnosis of pulmonary masses in the newborn lung.
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