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Dural ectasia in children with Marfan syndrome: a prospective, multicenter, patient-control study
Walter Knirsch1, Claudia Kurtz, Nicole Häffner
1Division of Pediatric Cardiology, Children's University Hospital Zurich, Zurich, Switzerland. walter.knirsch@kispi.unizh.ch
Insights
Marfan syndrome diagnosis in children is challenging. This study found that dural ectasia, a key diagnostic sign, is present in the lumbosacral spine of young Marfan syndrome patients.
Area of Science:
- Medical Imaging
- Genetics
- Pediatrics
Background:
- Marfan syndrome diagnosis in children is difficult due to delayed symptom onset.
- Dural ectasia is a major diagnostic criterion for Marfan syndrome in adults.
- The prevalence of dural ectasia in pediatric Marfan syndrome cases is unknown.
Purpose of the Study:
- To identify pathological changes in the lumbosacral spine of young Marfan syndrome patients.
- To investigate the presence and extent of dural ectasia in children with Marfan syndrome.
Main Methods:
- Prospective, multicenter, observational, patient-control study.
- MRI of the lumbosacral spine.
- Analysis included vertebral body diameter (VBD), dural sac diameter (DSD), and dural sac ratio (DSR) in 20 patients with Marfan syndrome, 20 suspected cases, and 38 controls.
Main Results:
- Elevated DSD and VBD were observed in Marfan syndrome patients compared to controls.
- DSD relative to body height was increased in Marfan syndrome patients.
- Significant differences in DSD (L1, L5, S1) and DSR (L5, S1) were found in Marfan syndrome patients versus controls.
Conclusions:
- Pathological changes in the lumbosacral spine, including dural ectasia, are detectable in children with Marfan syndrome.
- Dural ectasia at L5 and S1 levels can be identified in up to 40% of pediatric Marfan syndrome patients.
Unlabelled:
The clinical diagnosis of Marfan syndrome in childhood is difficult, because symptoms may not have developed to their full expression until adulthood. The Ghent nosology for the diagnosis of Marfan syndrome classifies dural ectasia as a major diagnostic criterion. More than two thirds of adult patients with Marfan syndrome show dural ectasia, while the frequency in childhood is unknown. This prospective multicenter observational patient-control study was performed to identify pathologic changes of the lumbosacral spine in young patients with Marfan syndrome.
Design:
Prospective clinical trial, multicentric, cross-sectional.
Setting:
MRI of the lumbosacral spine.
Patients:
Twenty patients with proven Marfan syndrome, 20 patients suspicious for Marfan syndrome and 38 healthy controls.
Outcome Measures:
Vertebral body diameter (VBD) from L1 to S1, dural sac diameter (DSD) from L1 to S1, dural sac ratio (DSR), qualitative assessment of the lumbosacral spine.
Results:
DSD and VBD in different age groups were higher in patients with proven or suspected Marfan syndrome than in healthy controls (DSD: L1, 6-8 years, P < 0.05). VBD related to body height showed a similar growth related increase in patients with proven or suspected Marfan syndrome and controls. DSD related to body height was elevated in patients with proven or suspected Marfan syndrome at different levels of the lumbar spine. DSD at levels L1, L5, and S1, and DSR at levels L5 and S1 of patients with proven Marfan syndrome were significantly higher (P < 0.05) than in controls.
Conclusion:
Even during childhood pathologic changes inside the lumbosacral spine of patients with Marfan syndrome can be observed. Dural ectasia, which occurs at different levels of the lumbar spine, can be detected at levels L5 and S1 in up to 40% of patients with Marfan syndrome.
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