Abstract
A 25-year-old female present to us in the emergency department with atraumatic fracture of the proximal femur. She had a cafe-au-lait spot on the face and gave history of precocious puberty. A skeletal survey showed polyostotic fibrous dysplasia.A clinico-radiological diagnosis of McCune-Albright syndrome was made which was further confirmed on biopsy. An extra-medullary fixation was done and at 6 months follow-up, the fracture had united and the patient could walk without support.
Highlights
Introduction configurationThe initial plan was of internal fixation withFibrous dysplasia/McCune-Albright syndrome (FD/MAS) occurs due to somatic gain-of-function mutations of the GNAS gene
We report the case of a young female with McCune-Albright syndrome cephalomedullary nail, but due to very narrow diameter of the medullary canal, an extramedullary fixation had to be done. (Figure 3) The patient was discharged on postoperative day 5 after confirming healthy state of the wound
McCune–Albright syndrome is a rare sporadic disease caused by somatic postzygotic activating mutations in the GNAS gene. It is characterised by polyostotic fibrous dysplasia, café-au-lait skin spots and variable hyperfunctional endocrinopathies.[2]
Summary
Fibrous dysplasia/McCune-Albright syndrome (FD/MAS) occurs due to somatic gain-of-function mutations of the GNAS gene. These mutations cause over activity in the target tissues leading to clinical features that vary in severity and age of onset.[1] Since the disease is rare and can have atypical presentation, the diagnosis can be missed. We report the case of a young female with McCune-Albright syndrome cephalomedullary nail, but due to very narrow diameter of the medullary canal, an extramedullary fixation had to be done.
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