Massive scoliotic deformity, ectasy of the ascending aorta, ectopia lentis, dilatative cardiomyopathy, tall thin stature with long limbs, elongated face, and muscular hypoplasia/hypotonicity
The patient presented with worsening back pain and, together with her parents, requested surgical correction of her massive scoliotic deformity.
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.
Marfan syndrome, also known as arachnodactyly, is an autosomal dominant disorder of connective tissue that affects the cardiovascular system, the eye and the musculoskeletal system. More than 135 mutations have been identified in the fibrillin-1 gene (localised on chromosome 15q21.1) [1]. The prevalence is 5 in 100,000 (new mutations in 15%) and the male:female ratio is 1:1 [2].
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).
Marfan syndrome
From the provided X-ray, CT, and MRI images, the following key features are observed:
Taking into account the patient’s clinical features (tall, thin physique, elongated extremities, lens subluxation, cardiovascular abnormalities) and radiological findings (scoliosis, dural ectasia, vertebral structural anomalies), the possible diagnoses and differentials include:
Based on the patient’s body habitus (tall, thin build, elongated limbs), cardiovascular changes (ascending aortic dilation, potential cardiac enlargement), ocular findings (lens subluxation), and the characteristic spinal and dural imaging findings, the most likely diagnosis is: Marfan Syndrome. For definitive confirmation, further investigations such as genetic testing (FBN1 gene testing) and more comprehensive cardiac evaluations (echocardiography, MR angiography) can be performed to assess the extent of cardiovascular involvement.
Treatment Strategy Overview:
Rehabilitation and Exercise Prescription:
Marfan syndrome patients often have fragile bones, joint hypermobility, and potential cardiopulmonary risks; therefore, an individualized and gradual exercise program is necessary. The FITT-VP (Frequency, Intensity, Time, Type, Volume, Progression) principles can serve as a guide:
This report is for reference only, based on the provided images and partial clinical data. It does not replace in-person consultation or professional medical advice. Specific treatment plans should be determined by specialized physicians, taking into account comprehensive clinical evaluation, genetic testing, and cardiopulmonary function assessments.
Marfan syndrome
