Sudden death in Proteus syndrome

Abstract

We report two children with Proteus syndrome (PS) who died suddenly from pulmonary embolism (PE). Clinical criteria for PS diagnosis adheres to published criteria (Biesecker, et al., 1999). Case 1 was a 9yo male whose manifestations included connective tissue nevi, hemimegancephaly. asymmetric progressive overgrowth of numerous tissues, hyperostoses and cutaneous nevi. He was at home and apparently healthy when he emitted a loud gasp and was soon thereafter found unconscious. He could not be revived and was declared dead on arrival at the hospital. Autopsy revealed that the proximate cause of death was a pulmonary embolus associated with a DVT of the lower extremity. Case 2 was a 17yo female whose manifestations were very similar to case 1, but milder in severity. She was undergoing inpatient treatment for sinusitis and/or refractory otitis media when she unexpectedly arrested. She could not be revived. A full autopsy revealed a large pulmonary embolus with no identified DVT. To our knowledge, PE has previously been reported only in one case of PS That report described a 2yo male undergoing surgical convalescence who had asymmetric overgrowth, macrodactyly and widespread internal hemolymphangiomata (Eberhard et al, 1994). Although PE may be uncommon in PS, it has been described in Klippel-Trenaunay syndrome (KTS). Venous malformations are a feature of KTS and the incidences of venous thromboembolism and PE have been estimated to be as high as 22% and 12% respectively in KTS (Baskerville et al., 1985) We conclude that PE is a serious complication of PS. We recommend vigilance concerning the signs and symptoms of thrombosis and PE in individuals with PS, including children. Aggressive evaluation and treatment should be considered urgently in patients with PS and signs or symptoms of DVT. This finding may contribute to the apparent increase in mortality in children with PS.ReferencesBaskerville et al. Br J Surg 1985,72:232-6Biesecker et al. Am J Med Genet 1999;84:389-95.Eberhard et al. Pediatr Pathol 1994;14:771-9.