The lumbosacral spine in Marfan syndrome

In addition there was known ectasy of the ascending aorta, dilatative cardiomyopathy, ectopia lentis, tall thin stature with long limbs, elongated face, and muscular hypoplasia/hypotonicity - all typical signs of Marfan syndrome.

A spiral CT scan of the spine and an MRI of the abdomen were performed in order to show the abdominal vessels and the contents of the spinal channel.

The major orthopaedic manifestations of Marfan syndrome include scoliosis and chest wall deformity (Fig. 1,4), dural ectasia and sacral meningoceles (Fig. 3), joint hypermobility and acetabular protrusion [1,2]. Pedicle width and laminar thickness are significantly smaller at all levels (Fig. 2) and there is increased bony erosion of the anterior and posterior elements of the lumbosacral spine [3]. Dural ectasia and enlargment of neuroforamina (Figs 1-3) are highly characteristic, even at an early age, with a prevalence of 92% [4]. The severity of dural ectasia and the appearance of meningoceles increases with age [4]. Criteria for diagnosis of dural ectasia in Marfan patients are an interpedunculate distance of more than 38mm at L4 or a sagittal diameter at S1 of more than 18mm or a scalloping-value at L5 of more than 5.5mm [5]. Scoliosis, enlargment of intervertebral foramina due to “dumbell” tumours, posterior scalloping of vertebral bodies and meningoceles can also be seen in neurofibromatosis-1. Mucopolysaccharidoses, especially type IV (Morquio) and type VI (Maroteaux-Lamy), show platyspondyly (universal vertebra plana) with kyphosis and irregularity at the anterior aspect of the vetebral body [2).