Discussion in 'Spot Diagnosis' started by Egyptian Doctor, Mar 12, 2013.
what is your medical diagnosis ?
Scoliosis - Marfan syndrome?
Possible underlying causes
1) When scoliosis is so marked, i usually think of congenital vertebral anomaly as the underlying cause and is generally associated with cardiac and genital anomalies.
2) I see some freckling on the back....so may be neurofibromatosis type 1 with dystrophic type of scoliosis
Cause of scoliosis in Neurofibromatosis ?
Scoliosis is the most common osseous defect associated with NF1. It may vary in severity from mild and nonprogressive to severe curvatures. The cause of this spinal deformity is unknown, but some have suggested that it is secondary to endocrine disturbances, mesodermal dysplasia, and osteomalacia (a localized neurofibromatous tumor eroding and infiltrating bone).
Two primary types of scoliosis are observed in persons with neurofibromatosis. Dystrophic scoliosis is the short-segmented, sharply angulated type that includes fewer than 6 spinal segments. It has a tendency to progress to a severe deformity.[SUP][9, 10] [/SUP]The second type of curvature, in nondystrophic scoliosis, is similar to the idiopathic curvature observed in adolescents. This form usually involves 8-10 spinal segments. The deformity is most often convex to the right; however, this is not consistent.
Classification of scoliosis
Transient structural scoliosis
idiopathic (70 - 80 % of all cases)
Idiopathic genetic scoliosis accounts for about 80 % of all cases of the disorder, and has a strong female predilection (7:1). It can be subclassified into infantile, juvenile and adolescent types, depending upon the age of onset. The most common of these is adolescent scoliosis, which by itself is by far the most common type of idiopathic scoliosis in the United States.
ref - Scoliosis
in fact in subtle cases of scoliosis, u can accentuate this bulge / rib hump, by asking the person to bend forward
the above img. is from a challenge i posted here - http://forum.facmedicine.com/spot-diagnosis/14214-spot-diagnosis-rib-hump.html
u may be right, but hard to say from this view...to see the kyphosis u need a profile and front-on view
part of what u see in profile view is the rib hump..but u can notice the kyphosis component in the cervical and upper thoracic area.
Kyphoscoliosis, is usually the norm and not the exception in such severe cases and i guess it may b the case with this case as well.
Answer : Scoliosis for DD mostly Marfan syndrome
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