Congenital chylothorax associated with trisorny X

Abstract

The association of congenital chylothorax and trisomy X is important for counselling families at risk.Recently we treated a female newborn with congenital chylothorax who was thought initially to have a bilateral fetal hydrothorax.The baby was born by caesarean section at 35 weeks gestation due to fetal distress and hydrops fetalis. The mother was 42 years of age, her pregnancy was complicated by gestational diabetes and because of her age, an amniocentesis was performed in the 19th week. The fetal karyotype was 47XXX or trisomy X. This was con®rmed by karyotyping the baby's lymphocytes and then the ®broblasts when the diagnosis of chylothorax was established. The congenital chylothorax was treated according to the numerous articles found in the literature. The baby is seen regularly at the outpatient clinic and her clinical condition and development are both good. However, we could not ®nd any article in the literature concerning the association of congenital chylothorax and trisomy X.In an attempt to explain this case, we suggest that the fetal karyotype was a mosaic 47XXX/45X. Therefore in early fetal life there must have been a loss of one cell line, the 45X. This line, not detected later in chromosomal studies done in the amniocytes and the baby's cultured skin ®broblasts, was related to problems in lymphatic development resulting in the chylothorax.Most cases of chylothorax are sporadic, however Reece et al. [2] suggested an X-linked recessive transmission and another report [1] described a congenital chylothorax in two consecutive female siblings suggesting autosomal recessive inheritance. We believe that the association of congenital chylothorax with trisomy X is worthy of notice in order to counsel parents after the appearance of an aected ®rst child. References 1. King PA, Ghosh A, Tang MHY, Lam SK (1991) Recurrent congenital chylothorax. Prenat Diagn 11: 809±811 2. Reece EA, Lockwood CJ, Rizzo N, Pilu G, Bivicelli L, Hobbins JC (1987) Intrinsic intrathoracic malformations of the fetus: sonographic detection and clinical presentation. Obstet Gynecol 70: 627±632 Eur J Pediatr (2001) 160: 743

Rare case of massive congenital bilateral chylothorax in a hydropic fetus with true mosaicism 47,XXX/46,XX

“…In conclusion, we found an association between hydrops fetalis with massive chylothorax and true mosaicism 47,XXX/46,XX, which can be added to the only previously reported case with the 47,XXX genotype . However, further evidence is necessary to confirm this possible relation.…”

“…This latter case was characterized by variable levels of mosaicism and, eventually, a final genetic diagnosis of Down syndrome during infancy was made. Just one case, reported by Cardoso, is apparently linked to a 47,XXX karyotype diagnosed prenatally and confirmed by karyotyping the newborn's lymphocytes. The author suggested, in an attempt to explain that case, that the fetal karyotype could be a mosaic 47,XXX/45,X and so the 45X cell line was considered to be connected with problems in lymphatic development resulting in the chylothorax.…”

“…11 In conclusion, we found an association between hydrops fetalis with massive chylothorax and true mosaicism 47,XXX/46,XX, which can be added to the only previously reported case with the 47,XXX genotype. 7 However, further evidence is necessary to confirm this possible relation. The present case also emphasizes that, when facing the diagnosis of abnormal karyotypes, even those that are not usually characterized by severe phenotypic features, it may be appropriate to schedule ultrasound follow-up of the fetus at closer intervals than usual routine timing.…”

High Dose Octreotide for the Treatment of Chylothorax in Three Neonates

“…Neonates with chylothorax may present with massive lymph loss inducing critical loss of fluid, lymphocytes, protein, coagulation factors, and antibodies [4]. There is no standard regime for the treatment of neonatal chylothorax, but many medical therapies have been reported such as total parenteral nutrition, medium-chain triglycerides, pleurodesis, and surgical interventions such as the ligation of the thoracic duct [1][2][3][4][5][6][7][8].…”

“…Octreotide, a somatostatin analog, is thought to have a beneficial effect on chylothorax through the vascular somatostatin receptor, leading to reduction in chyle production. However, the optimal octreotide dosage and administration route for chylothorax have been inconsistent to date [2,3]. We report three neonatal cases of persistent chylothorax successfully treated with a high dose of octreotide.…”