Sponseller P D, Sethi N, Cameron D E, Pyeritz R E
Department of Orthopaedic Surgery, Johns Hopkins University, Baltimore, Maryland, USA.
Spine (Phila Pa 1976). 1997 Mar 1;22(5):509-16. doi: 10.1097/00007632-199703010-00008.
A retrospective review of clinical data was conducted.
To determine the characteristics of infantile scoliosis in Marfan syndrome and the response to treatment of patients with this condition.
No previous study has reported the features of this condition nor the effect of treatment on patients with this syndrome.
The data on all patients seen at one institution who had Marfan syndrome and scoliosis by age three were reviewed. Fourteen of the 600 patients from the group examined who had Marfan syndrome fit the above criteria. Skeletal and general features were studied.
Thirteen of the 14 patients had no family history of Marfan syndrome, a finding which does not fit the usual autosomal dominant inheritance pattern. All 14 patients had exaggeration of the Marfan. All but one patient had cardiac valvular insufficiency that required repair by age 11. Thirteen patients had thoracic aortic aneurysm, 10 had lens dislocation, and eight had sternal deformity. Three patients had hip dislocations, two had pyloric stenosis, and two had dural ectasia. Motor delay was evidenced by onset of walking past 18 months in nine patients; three of these patients were never able to walk independently. One patient each died at ages 1, 3, 4, and 8 years; all others have survived to present (mean age, 13 years). The mean curve of the patients' spines at presentation was 38 degrees. Eleven curves were double major, two were thoracolumbar, and one was double thoracic. Brace wear did not halt curve progression in any of the nine patients for whom it was used. Instrumentation without fusion was used in three patients for a mean of 3 years, with best results in one nonkyphotic curve. Nine patients underwent instrumented fusion at a mean age of 6.6 years (range, 3-13 years). Mean curve correction was 51% (from 72 degrees to 34 degrees). Final mean curve was 54 degrees for a mean correction of 20% at the 5-year (average, 5.4 years) follow-up examination. Acute complications occurred in three patients, and five patients needed a second surgery for late complications. Causes for curve increase after surgery included growth and loss of fixation.
In this most severe form of Marfan syndrome, bracing has a limited role and is only to be used if the curve is less than 40 degrees. Surgery should not be performed on a patient younger than four years of age because many patients with large curves before this age will succumb spontaneously to cardiac complications. Instrumentation without fusion should be considered only for patients with no significant kyphosis. Results of fusion are better for patients who are older than five years of age.
对临床数据进行回顾性分析。
确定马凡综合征患儿脊柱侧弯的特征以及该病症患者的治疗反应。
既往尚无研究报道该病症的特征以及治疗对该综合征患者的影响。
回顾了在一家机构就诊的所有三岁前患有马凡综合征和脊柱侧弯的患者的数据。在接受检查的600例患有马凡综合征的患者中，有14例符合上述标准。对骨骼和一般特征进行了研究。
14例患者中有13例无马凡综合征家族史，这一发现不符合常见的常染色体显性遗传模式。所有14例患者均有马凡综合征的典型表现。除1例患者外，所有患者在11岁前均有心脏瓣膜功能不全，需要进行修复。13例患者有胸主动脉瘤，10例有晶状体脱位，8例有胸骨畸形。3例患者有髋关节脱位，2例有幽门狭窄，2例有硬脊膜扩张。9例患者18个月后才开始走路，提示运动发育迟缓；其中3例患者从未能够独立行走。分别有1例患者在1岁、3岁、4岁和8岁时死亡；其他所有患者均存活至今（平均年龄13岁）。患者初诊时脊柱侧弯的平均度数为38度。11例为双主弯，2例为胸腰段侧弯，1例为双胸弯。对于使用支具的9例患者，支具佩戴均未能阻止侧弯进展。3例患者采用了非融合器械固定，平均使用3年，其中1例非后凸侧弯效果最佳。9例患者平均在6.6岁（范围3 - 13岁）时接受了器械辅助融合手术。平均侧弯矫正率为51%（从72度降至34度）。在5年（平均5.4年）的随访检查中，最终平均侧弯度数为54度，平均矫正率为20%。3例患者出现急性并发症，5例患者因晚期并发症需要二次手术。术后侧弯增加的原因包括生长和内固定松动。
在这种最严重形式的马凡综合征中，支具的作用有限，仅在侧弯小于40度时使用。4岁以下患者不应进行手术，因为许多在此年龄前侧弯度数较大的患者会因心脏并发症而自然死亡。仅对于无明显后凸的患者可考虑采用非融合器械固定。5岁以上患者融合手术的效果更好。
