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Congenital chylothorax in Opitz G/BBB syndrome

Chylothorax is defined as a collection of lymph in the pleural space. It may be primary or secondary. Primary chylothorax is due to lymphatic duct abnormalities and may occur in isolation or in association with clinical conditions (polyhydramnios, hydrops, intrathoracic mass) or certain genetic syndromes (i.e., Noonan, Turner and Fryns syndromes [Van Straaten et al., 1993], Down syndrome [Ho et al., 1989], inversion of chromosome 2 and Kabuki syndrome [Maayan-Metzger et al., 2005]). Primary or congenital chylothorax is relatively uncommon: 1:10,000–15,000 live births. Secondary chylothorax occurs more often and is mostly associated with trauma or thoracic surgery. Opitz G/BBB syndrome is a heterogeneous disorder characterized by malformations of the ventral midline (OS; MIM 145410 and 300000). It was originally described as two distinct entities: the G syndrome characterized by hypospadias, hypertelorism, laryngo-tracheo-esophageal (LTE) abnormalities and central nervous system (CNS) midline defects [Opitz et al., 1969a] and the BBB syndrome with hypertelorism, hypospadias, cleft lip and/or palate, and anal anomalies [Opitz et al., 1969b]. The two syndromes were later merged and reclassified as G/BBB syndrome, comprising most prominently hypertelorism, hypospadias, and midline closure defects [Robin et al., 1996]. The autosomal dominant form maps to 22q11.2, the X-linked one maps to Xp22.3 [Robin et al., 1995]. No specific phenotypic findings have yet been shown to differentiate between the autosomal and X-linked genetic forms of OS. Mutations in the MID1 gene have been detected in 36–75% of the familial X-linked OS cases [Gaudenz et al., 1998, Cox et al., 2000] and in 6–36% of sporadic cases. A recent cohort reported a MID1 mutation detection rate of 22% for familial cases and 6% for sporadic cases [So et al., 2005]. Mutations in MID1 lead to a marked accumulation of protein phosphatase 2A (PP2A), a central cellular regulator. Elevated PP2A causes hypophosphorylation of microtubule-associated proteins, consistent with the OS phenotype [Trockenbacher et al., 2002]. Furthermore, it has been suggested that MID1 forms a large complex that is associated with microtubules and regulates microtubule dynamics [Schweiger and Schneider, 2003]. Interestingly, MID1 and its homolog MID2 share functional redundancy that may contribute to the wide variability of the MID1 associated OS phenotype [Granata et al., 2005]. Nonetheless, the low frequency of MID1 mutations and the high variability of the phenotype in general suggest the involvement of other genes in the pathogenesis of OS [De Falco et al., 2003]. Indeed, partial duplication of 5p [Leichtmann et al., 1991), and a terminal deletion of chromosome 13 (q32.3qter) in children with OS have also been described [Urioste et al., 1995]. These observations highlight the benefit of any report on unusual findings in OS patients that may improve our understanding of the genetically unresolved cases. Here we present a clinical case of Opitz G/BBB syndrome complicated by congenital chylothorax. Our patient, a 3.2 kg male, was delivered at 37 weeks of gestation by Cesarean following induction in a 27-year-old primigravid mother. The mother was noted tohavemarkedhypertelorism; theparents were healthy and the family history was otherwise