Hereditary Multiple Exostoses with Pseudoaneurysm

Abstract

A 16-year-old male patient with hereditary multiple exostoses (HME) was found to have a pseudoaneurysm of the left popliteal artery caused by osteochondroma in the lower femur. The diagnosis was confirmed by ultrasound, magnetic resonance imaging and magnetic resonance angiography without the need to perform an angiogram. The osteochondroma was excised and the popliteal artery was repaired with a saphenous graft. Vascular complications are extremely rare in HME, pseudoaneurysm being the most common and mostly located in the popliteal artery. This complication should be considered in young HME patients with a mass at the knee region. The radiological spectrum of investigations allows the diagnosis of this complication with proper and less invasive management procedures for the patient.

Acute Lower Extremity Ischemia due to the Popliteal Pseudoaneurysm in a 16-year-old Boy with Multiple Exostoses

“…The EXT1 gene on chromosome 8q23-q24 and the EXT2 gene on chromosome 11p11-pl2 are most commonly affected with abnormalities in the EXT3 gene on chromosome 19p less frequently reported. 8) The patient in this reported case presented multiple oste ochondromas (two in the distal femur and one in the proximal tibia), but did not have any familial history.…”

Posttraumatic popliteal pseudoaneurysm caused by a femoral osteochondroma

“…Generally there are two hypotheses: (i) the pseudoaneurysm results as a consequence of a trauma to the exostosis with perforation of the vessel [15,16]; (ii) a gradual erosion develops as the artery pulses against the exostosis de-emphasizing the significance of skeletal maturation or trauma [1,17]. In childhood, the exostosis is covered by a soft cartilaginous cap, protecting adjacent structures.…”

“…They are congenital and caused by hyper-or dysplastic bone arising from subperiostal displacement of adjacent epiphyseal plate cartilage [4]. They may present with pain [4,5], stiffness contractures and deformity or may be diagnosed accidentally on plain radiographs [1,4,6]. Neurological compromise and vascular complications are infrequently reported in the literature [2,3,6,7].…”

“…Osteochondromas are the most frequent benign bone tumours, with an incidence of 1 -2% [1][2][3]. They are congenital and caused by hyper-or dysplastic bone arising from subperiostal displacement of adjacent epiphyseal plate cartilage [4].…”

Compression nerveuse et veineuse profonde par un faux anévrysme de l’artère fémorale superficielle au cours d’une exostose multiple

“…Les complications évolutives surviennent dans 4 % des exostoses [2] et sont généralement bénignes, tels que les fractures, les compressions nerveuses et les lésions artérielles et veineuses. Une transformation maligne se voit chez 3 à 5 % des malades [3].…”