A Girl with Progressive Vision Loss: Diagnostic Clues

Excerpt

An eleven-year-old girl presented with progressive vision loss for the past one year. The vision loss was slowly progressive, painless and was not associated with any eye discharge and redness. On examination, she had diminished visual acuity (6/24 in both the eyes), bilateral optic atrophy, mild proptosis, malar prominence, broad nasal bridge, frontal bossing and a large irregular cafe-au-lait spot on her left side of back (Fig. 1). Rest of the systemic and neurological examination was unremarkable. Computerized tomography scan of the head showed calvarial thickening, and expansible multiple lytic sclerotic lesions with ground glass matrix with encroachment of paranasal sinus and optic canals (Fig. 2). X-ray femur (Fig. 3) showed multiple lytic lesions and displaced fracture of left femur. A clinical diagnosis of McCune-Albright syndrome (MAS) was concluded.

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