Jaffe-Campanacci syndrome; a case series and review of the literature.

BACKGROUND: Jaffe-Campanacci syndrome is a rare syndrome, characterized by multiple non-ossifying fibromas (NOF) and cafe-au-lait patches. The name was coined in 1982 by Mirra after Jaffe who first described the case in 1958. Although it's suggested there is a relation with Neurofibromatosis type 1, there is still no consensus on whether Jaffe-Campanacci syndrome is a subtype or variant of neurofibromatosis-1(NF-1). CASE PRESENTATION: In this article, we present a case series of 2 patients. The first case is a 13-year-old male with Jaffe-Campanacci syndrome who presented with a distal femur fracture. His father had positive features of both Jaffe-Campanacci syndrome and NF-1, while his sister only had features of NF-1, so we presented both. CONCLUSION: Jaffe-Campanacci has a clear relationship with type 1 neurofibromatosis, which still has to be genetically established. Due to the presence of several large non-ossifying fibromas of the long bones, it is linked to a significant risk of pathological fractures. We concur with previous authors, that an osseous screening program should be performed for all patients with newly diagnosed type 1 neurofibromatosis, to identify non-ossifying fibromas and assess the potential for pathological fracture. Moreover, siblings of patients with NF-1 should be screened for multiple NOFs that may carry a high risk of pathological fractures.

Blalock-Taussig Shunt versus Ductal Stent in the Palliation of Duct Dependent Pulmonary Circulation; A Systematic Review and Metanalysis.

In infants with ductal dependent pulmonary blood flow, Blalock-Taussig (BT) shunt and Patent Ductus Arteriosus (PDA) stent, are two palliative procedures aimed to restore circulation. A systematic review and metanalysis was performed on studies comparing PDA stents and BT shunts, in accordance with PRISMA guidelines. Meta-analysis revealed the following; (1) a reduced risk of mortality [RR = 0.585 [0.399-0.859], (P = 0.006)], (2) a reduced risk of complications [RR = 0.523 [0.318-0.860], (P = 0.011), and (3) a reduced risk of ECMO use [R = 0.267 [0.101-0.706] (P = 0.008)], all in the stent group. Additionally, stent group showed higher post procedure oxygen saturation [SMD = 1.307 [95% CI 1.065-1.550], (P < 0.001)], and Nakata index [SMD = 0.679 95% CI [0.513 to 0.845], (P < 0.001)]. PDA stenting presents a viable alternative to BT shunt procedure with better post procedure stability.