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ORTHOPAEDICS |
| Case 8 : |
| A
young female presented with pain in abdomen and short stature. On
examination, short stature and anterior bowing of lower limbs was noted.
There was no history of mental retardation or rickets or history
suggestive of syphilis. No anemia or metabolic abnormality was noted on
routine lab investigations. What is the diagnosis? |
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__________SCROLL FOR ANSWER__________ |
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Radiographic
Features Radiographic examination reveals anterior bowing of both tibia and fibulae with posterior cortical thickening and irregular bony trabeculae in the mid-shafts. These findings are characteristic of Weissmann-Netter-Stuhl syndrome, as the characteristic radiographic stigmata of healed rickets and syphilis were absent in this case. DiscussionIn
1954, Weissmann-Netter and Stuhl in France reported 7 patients with an
osteodysplasia characterized by non-progressive, asymptomatic anterior
bowing of tibia and fibula with thickening of the posterior diaphyseal
cortex. Mental retardation and family history have also been documented in
subsequent reported cases. No specific lab abnormalities have been
demonstrated. The
radiographic features are pathognomic: bowing of both tibiae and fibulae
with an anterior convexity and the apex of the curve is at the junction of
middle and lower third, this is a constant feature of this syndrome. The
trabecular pattern of the medullary cavity of the midshaft is distorted,
and typically, posterior cortical thickening is seen. Horizontalization of
the sacrum, squaring of the ilia, and a low position of L5 relative to the
iliac bone are associated deformities. Differential
diagnosis includes healed rickets and osseous syphilis. Classical sabre
shin of congenital syphilis shows periosteal thickening of the anterior
tibial cortex, as opposed to posterior thickening seen in
Weissmann-Netter-Stuhl syndrome, while epiphyseal abnormalities,
metaphyseal zones of increased densities, and other stigmata of rickets
are absent in patients with toxopachyosteose. Severe bowing may be seen in
osteogenesis imperfecta, but again, multiple fractures and osteoporosis
are present with this disease and allows for easy differentiation. References1.
Amendola MA, Brower AC, Tisnado J. Weismann-Netter-Stuhl syndrome:
Toxopachyosteose Diaphysaire Tibio-Peroniere. AJR 1980; 135: 1211-15. 2.
HillerHG. Weissman-Netter-Stuhl syndrome. Australas Radiol 1976;
20: 174-5. Contribution
Dr.
Vinay Gheyi
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