Introduction: Popliteal pterygium syndrome is a rare birth defect, combining craniofacial, genitourinary and musculoskeletal abnormalities. It is an autosomal dominant disease caused by a mutation in the IRF6 gene. We...Introduction: Popliteal pterygium syndrome is a rare birth defect, combining craniofacial, genitourinary and musculoskeletal abnormalities. It is an autosomal dominant disease caused by a mutation in the IRF6 gene. We report in this observation the 1<sup>st</sup> Guinean case corrected by the surgical method as well as a review of the literature for a diagnostic and therapeutic approach. Patient and observation: We present the case of a 7-day old male newborn weighing 2700 g who was received for bilateral cleft lip and palate, lower lip fossa or sinuses, bilateral popliteal pterygium, and triangular skin fold above the hallux. The patient underwent several surgical procedures aimed at correcting these abnormalities. The correction of the pterygium of the lower limbs was ensured by excision of the fibrous band, the tenoplasty in z of the calcaneal tendon on the right side and the skin plasty in z in series then immobilized by plaster splints. The immediate postoperative follow-up was straightforward. Conclusion: Popliteal pterygium syndrome is a rare congenital malformation, the diagnosis is primarily clinical. Early soft tissue lengthening surgery and serial z-skin plasty provide better correction of the knee pterygium. Correct correction of facial abnormalities gives the child a better appearance. The management of this syndrome is multidisciplinary.展开更多
<u>Background:</u><span style="font-family:Verdana;"> Extracorporeal</span><span style="font-family:;" "=""> </span><span style="font-fami...<u>Background:</u><span style="font-family:Verdana;"> Extracorporeal</span><span style="font-family:;" "=""> </span><span style="font-family:Verdana;">membrane oxygenation is a rescue life support technique used in life threatening</span><span style="font-family:;" "=""> </span><span style="font-family:Verdana;">conditions of refractory respiratory and/or cardiac distress. Indication for extracorporeal life support in children</span><span style="font-family:;" "=""> </span><span style="font-family:Verdana;">depends on age and varies from pulmonary to cardiac pathologies. In some cases</span><span style="font-family:Verdana;">,</span><span style="font-family:Verdana;"> it may be used as a bridge to a</span><span style="font-family:;" "=""> </span><span style="font-family:Verdana;">therapeutic procedure.</span><span style="font-family:;" "=""> </span><span style="font-family:Verdana;">We described here the management of respiratory failure due to hemoptysis in a child with a Fontan circulation</span><span style="font-family:;" "=""> </span><span style="font-family:Verdana;">and veno-venous extracorporeal membrane oxygenation which served as a bridge to angio-embolization. Hemoptysis can be a life threatening condition which can lead to hypovolemic shock and impaired alveolar gas</span><span style="font-family:;" "=""> </span><span style="font-family:Verdana;">exchange. The latter can result in respiratory failure and consequent asphyxia.</span><span style="font-family:;" "=""> </span><span style="font-family:Verdana;">When hemoptysis occurs in a patient with a univentricular</span><span style="font-family:;" "=""> </span><span style="font-family:Verdana;">heart and a Fontan circulation, management of this</span><span style="font-family:;" "=""> </span><span style="font-family:;" "=""><span style="font-family:Verdana;">clinical situation can be challenging due to the particular physiology of the latter. Total cavopulmonary connection is a palliative surgical repair which constitutes Fontan circulation as a definitive treatment in patients with a univentricular heart. </span><u><span style="font-family:Verdana;">Methods:</span></u><span style="font-family:Verdana;"> Case report description of a 16 year-old boy with a univentricular heart and a Fontan circulation</span></span><span style="font-family:;" "=""> </span><span style="font-family:Verdana;">who presented hemoptysis managed with a veno-venous extracorporeal membrane oxygenation (ECMO) as a</span><span style="font-family:;" "=""> </span><span style="font-family:;" "=""><span style="font-family:Verdana;">bridge to angio-embolization. </span><u><span style="font-family:Verdana;">Results:</span></u><span style="font-family:Verdana;"> Hemoptysis due to diffuse intra-alveolar hemorrhage from collateral circulation was successfully treated</span></span><span style="font-family:;" "=""> </span><span style="font-family:Verdana;">in this young patient with pulmonary vascular embolization. This allowed to wean the patient from</span><span style="font-family:;" "=""> </span><span style="font-family:;" "=""><span style="font-family:Verdana;">extra-corporeal membrane oxygenation. </span><u><span style="font-family:Verdana;">Conclusion:</span></u><span style="font-family:Verdana;"> Veno-venous ECMO can be life-saving as a bridge to angio-embolization for severe hemoptysis in</span></span><span style="font-family:;" "=""> </span><span style="font-family:;" "=""><span style="font-family:Verdana;">patients with Fontan circulation. The reported case allows to underline that </span><span style="font-family:Verdana;">our multidisciplinary approach in</span></span><span style="font-family:;" "=""> </span><span style="font-family:Verdana;">this complex pediatric patient surely</span><span style="font-family:Verdana;"> participated to improve outcome.</span>展开更多
文摘Introduction: Popliteal pterygium syndrome is a rare birth defect, combining craniofacial, genitourinary and musculoskeletal abnormalities. It is an autosomal dominant disease caused by a mutation in the IRF6 gene. We report in this observation the 1<sup>st</sup> Guinean case corrected by the surgical method as well as a review of the literature for a diagnostic and therapeutic approach. Patient and observation: We present the case of a 7-day old male newborn weighing 2700 g who was received for bilateral cleft lip and palate, lower lip fossa or sinuses, bilateral popliteal pterygium, and triangular skin fold above the hallux. The patient underwent several surgical procedures aimed at correcting these abnormalities. The correction of the pterygium of the lower limbs was ensured by excision of the fibrous band, the tenoplasty in z of the calcaneal tendon on the right side and the skin plasty in z in series then immobilized by plaster splints. The immediate postoperative follow-up was straightforward. Conclusion: Popliteal pterygium syndrome is a rare congenital malformation, the diagnosis is primarily clinical. Early soft tissue lengthening surgery and serial z-skin plasty provide better correction of the knee pterygium. Correct correction of facial abnormalities gives the child a better appearance. The management of this syndrome is multidisciplinary.
文摘<u>Background:</u><span style="font-family:Verdana;"> Extracorporeal</span><span style="font-family:;" "=""> </span><span style="font-family:Verdana;">membrane oxygenation is a rescue life support technique used in life threatening</span><span style="font-family:;" "=""> </span><span style="font-family:Verdana;">conditions of refractory respiratory and/or cardiac distress. Indication for extracorporeal life support in children</span><span style="font-family:;" "=""> </span><span style="font-family:Verdana;">depends on age and varies from pulmonary to cardiac pathologies. In some cases</span><span style="font-family:Verdana;">,</span><span style="font-family:Verdana;"> it may be used as a bridge to a</span><span style="font-family:;" "=""> </span><span style="font-family:Verdana;">therapeutic procedure.</span><span style="font-family:;" "=""> </span><span style="font-family:Verdana;">We described here the management of respiratory failure due to hemoptysis in a child with a Fontan circulation</span><span style="font-family:;" "=""> </span><span style="font-family:Verdana;">and veno-venous extracorporeal membrane oxygenation which served as a bridge to angio-embolization. Hemoptysis can be a life threatening condition which can lead to hypovolemic shock and impaired alveolar gas</span><span style="font-family:;" "=""> </span><span style="font-family:Verdana;">exchange. The latter can result in respiratory failure and consequent asphyxia.</span><span style="font-family:;" "=""> </span><span style="font-family:Verdana;">When hemoptysis occurs in a patient with a univentricular</span><span style="font-family:;" "=""> </span><span style="font-family:Verdana;">heart and a Fontan circulation, management of this</span><span style="font-family:;" "=""> </span><span style="font-family:;" "=""><span style="font-family:Verdana;">clinical situation can be challenging due to the particular physiology of the latter. Total cavopulmonary connection is a palliative surgical repair which constitutes Fontan circulation as a definitive treatment in patients with a univentricular heart. </span><u><span style="font-family:Verdana;">Methods:</span></u><span style="font-family:Verdana;"> Case report description of a 16 year-old boy with a univentricular heart and a Fontan circulation</span></span><span style="font-family:;" "=""> </span><span style="font-family:Verdana;">who presented hemoptysis managed with a veno-venous extracorporeal membrane oxygenation (ECMO) as a</span><span style="font-family:;" "=""> </span><span style="font-family:;" "=""><span style="font-family:Verdana;">bridge to angio-embolization. </span><u><span style="font-family:Verdana;">Results:</span></u><span style="font-family:Verdana;"> Hemoptysis due to diffuse intra-alveolar hemorrhage from collateral circulation was successfully treated</span></span><span style="font-family:;" "=""> </span><span style="font-family:Verdana;">in this young patient with pulmonary vascular embolization. This allowed to wean the patient from</span><span style="font-family:;" "=""> </span><span style="font-family:;" "=""><span style="font-family:Verdana;">extra-corporeal membrane oxygenation. </span><u><span style="font-family:Verdana;">Conclusion:</span></u><span style="font-family:Verdana;"> Veno-venous ECMO can be life-saving as a bridge to angio-embolization for severe hemoptysis in</span></span><span style="font-family:;" "=""> </span><span style="font-family:;" "=""><span style="font-family:Verdana;">patients with Fontan circulation. The reported case allows to underline that </span><span style="font-family:Verdana;">our multidisciplinary approach in</span></span><span style="font-family:;" "=""> </span><span style="font-family:Verdana;">this complex pediatric patient surely</span><span style="font-family:Verdana;"> participated to improve outcome.</span>