Infantile scoliosis in Marfan syndrome.
METHODS
A retrospective review of clinical data was conducted.


OBJECTIVE
To determine the characteristics of infantile scoliosis in Marfan syndrome and the response to treatment of patients with this condition.


BACKGROUND
No previous study has reported the features of this condition nor the effect of treatment on patients with this syndrome.


METHODS
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.


RESULTS
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.


CONCLUSIONS
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.
Sponseller
P D
PD
Department of Orthopaedic Surgery, Johns Hopkins University, Baltimore, Maryland, USA.
Sethi
N
N
Cameron
D E
DE
Pyeritz
R E
RE
D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D001847:Bone Diseases / Q000000981:diagnostic imaging / Q000209:etiology; D002648:Child; D002675:Child, Preschool; D005260:Female; D006349:Heart Valve Diseases / Q000209:etiology; D006801:Humans; D007223:Infant; D007906:Lens Subluxation / Q000209:etiology; D008297:Male; D008382:Marfan Syndrome / Q000150:complications* / Q000235:genetics / Q000401:mortality; D009043:Motor Activity / Q000235:genetics; D011859:Radiography; D012189:Retrospective Studies; D012600:Scoliosis / Q000150:complications* / Q000401:mortality / Q000601:surgery; D013123:Spinal Fusion; D016019:Survival Analysis; D016896:Treatment Outcome; D016138:Walking