|Year : 2014 | Volume
| Issue : 2 | Page : 179-183
McCune Albright syndrome: A case report with review of literature
Muhammad Haseeb1, Azhar Maqbool Khan2, Tariq Altaf3, Firdous Ahmed3
1 Department of Orthopaedics, Government Medical College, Jammu, Jammu and Kashmir, India
2 Department of Radiodiagnosis, Government Medical College, Jammu, Jammu and Kashmir, India
3 Medical Officer, J&K Health Services, Jammu and Kashmir, India
|Date of Web Publication||14-Sep-2015|
Dr. Muhammad Haseeb
208-B, Boys PG Hostel, Government Medical College, Jammu - 180 001, Jammu and Kashmir
Source of Support: None, Conflict of Interest: None
McCune Albright syndrome (MAS) is a rare disorder comprising any two of polyostotic fibrous dysplasia (PFD), café-au-lait macules and endocrine abnormalities. We present the case of a 25-year-old male who suffered a pathologic fracture of his right femur and on evaluation was found to have MAS. Interestingly, he did not have any endocrine abnormality, but only extensive PFD and café-au-lait spots, which are uncommon. Furthermore, worth noting was that he has suffered pathologic fractures before too and was hospitalized on three occasions, but never diagnosed so far. We also present a brief review of literature regarding this rare syndrome and the spectrum of its manifestations.
Keywords: Café-au-lait, fibrous dysplasia, McCune Albright syndrome, precocious puberty
|How to cite this article:|
Haseeb M, Khan AM, Altaf T, Ahmed F. McCune Albright syndrome: A case report with review of literature. J Orthop Traumatol Rehabil 2014;7:179-83
|How to cite this URL:|
Haseeb M, Khan AM, Altaf T, Ahmed F. McCune Albright syndrome: A case report with review of literature. J Orthop Traumatol Rehabil [serial online] 2014 [cited 2021 May 7];7:179-83. Available from: https://www.jotr.in/text.asp?2014/7/2/179/165285
| Introduction|| |
Pathologic fracture (with or without deformity) is usually how an orthopedic surgeon comes to know of a patient's fibrous dysplasia. Fibrous dysplasia is a relatively uncommon condition.  Like the name suggests, there is a replacement of normal bone by fibrous tissue.  The condition can affect a single bone (monostotic) or multiple bones (polyostotic). Furthermore, it can be an isolated anomaly or, less commonly, is associated with other manifestations to form a syndrome. Two such syndromes mentioned in orthopedic literature are the McCune Albright syndrome (MAS) and Mazabraud syndrome. 
McCune Albright syndrome consists of at least two of the following:
- Polyostotic fibrous dysplasia (PFD)
- Café-au-lait spots
- Autonomous endocrine hyperfunction. 
We report a case who was admitted for a pathologic fracture, and on evaluation was found to have PFD, and then MAS.
| Case Report|| |
A 25-year-old male presented in the Emergency Department with a history of low energy fall with trauma to the right thigh. Immediate assessment showed that he was hemodynamically stable, and showed no signs of closed head or chest or blunt abdominal trauma. The affected thigh was deformed suggesting a femoral fracture. The affected extremity was splinted, and radiographs obtained, which showed an oblique fracture of the mid-femoral shaft. The radiograph also revealed a deformed femur and a metallic implant in the femoral neck. A detailed history was elicited from the patient and his parents. It was found that he had suffered an injury to his right hip, while playing at the age of 8 years. He had been hospitalized and put on traction, and was allowed to bear weight on the limb only after 2 months. No medical record of this episode was however available. He had then developed a shortening of the same limb and a progressive limp. At the age of 14, he was diagnosed with a malunited intertrochanteric fracture (coxa vara), and a subtrochanteric valgus osteotomy with angled blade plate fixation was done on the same hip. It corrected his shortening, and he was able to walk normally for about 5 years, after which he again developed a shortening, and consequent limp. About 2 years ago, he was admitted again for a broken implant (blade plate). It could only be partially removed, and the "blade" was retained in the femoral neck. Until his current accident, he had been walking with a short right lower limb and limp. He gave no history of any other fractures or other illness in the past. From what he remembered, the age of his puberty was also normal. His sleep, appetite, bowel, and bladder habits were normal. There was no significant family medical history.
General physical examination showed that he was of average build and stature. He had obvious facial asymmetry, but no acromegalic facies [Figure 1]. Hearing and vision were normal. The thyroid was not palpable. Pulse and blood pressure were normal. There were café-au-lait spots on his lower back that crossed the mid-line [Figure 2]. Apart from the affected limb, there was no tenderness or limitation of movement in the rest of the skeleton. The right lower limb was 4 cm shorter than the left, and it was the femur that was short.
|Figure 2: Coast of Maine' appearance of café-au-lait macules on lower back, which cross the mid-line|
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Complete blood counts were within normal limits. Blood sugar, kidney, and liver function tests were normal. Serum electrolytes including calcium and phosphate were within the normal range. The serum alkaline phosphatase levels were raised at 252 IU/L (50-136 IU/L). We ran an endocrine profile, including thyroid and parathyroid function, adrenal function, serum prolactin, and sex hormone levels. They were all within normal limits. Simultaneously, we also radiographed his skeleton, and found that he had extensive involvement of his skeleton by the disease process. The affected bones included both femora as well as tibiae and fibulae, the pelvic bones on both sides, the humerus and forearm bones on the right side, multiple ribs on both sides and the right side of the skull. The spine and the hands and feet were free. The lesions involved the entire shafts of the involved long bones and had the characteristic "ground glass" appearance in many places. The overlying cortex was thinned and expanded. In the ribs, they appeared cystic and multiloculated, with scalloped thinning of the cortex. The right femur showed the typical "shepherd's crook" deformity. The right half of the skull showed hyperostosis with lytic lesions, and obliteration of the paranasal sinuses [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7], [Figure 8], [Figure 9], [Figure 10].
|Figure 3: Skull X-ray showing involvement of the right side and obliteration of paranasal sinuses|
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|Figure 4: Computed tomography head showing involvement of the right side with thickened diploe and hyperostosis, obliterated ethmoid sinuses on the right side|
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|Figure 5: Chest X-ray showing involvement of ribs on both sides. Note the ground glass appearance of the lytic lesions with thinning and expansion of the cortex|
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|Figure 8: (a) Radiograph showing plated femoral shaft fracture, with a deformed femur (Shepherd's crook), and a broken retained implant in the neck. (b) Pre-operation radiograph of fractured femur bone dispersed in a mass of fibrous tissue|
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|Figure 10: Computed tomography image showing bilateral femoral and pelvic involvement|
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The patient was planned for internal fixation of his pathologic femoral shaft fracture. The plan was intramedullary nailing, but because the entry point of the routine piriformis fossa entry nail was compromised by the retained broken implant and locking of a trochanteric entry reconstruction nail would have been impossible given the deformity of the femoral neck, plating with bone grafting of the fracture was performed. A biopsy from the fracture site was also taken which confirmed the diagnosis of fibrous dysplasia [Figure 11]. Postoperatively the patient had an uneventful recovery from the wound. He was also started on oral risedronate, which was continued at discharge.
| Discussion|| |
McCune Albright syndrome was earlier defined as a triad of PFD, café-au-lait macules and endocrine disturbances, most notably precocious puberty. Lately however, the definition has been modified, so that MAS is said to be present if the patient has any two of the three previously mentioned features.  The estimated prevalence is between 1/100,000 and 1/1,000,000.  The disease process usually starts in the first decade of life. The defect has been found to result from a mutation of the GNAS1 gene that encodes the alpha subunit of the G-protein. Activating mutations of the gene result in excessive activation of the G protein/cAMP signaling pathway, causing the manifestations of MAS. Not all cells in the body harbor this mutation though, hence the patients are somatic mosaics. 
Fibrous dysplasia is the most constant component of MAS. Normal bone and marrow are replaced by fibrous tissue and small woven spicules of bone.  Multiple bones are affected including craniofacial involvement. Bone scans reveal the actual extent of skeletal lesions. Computed tomography scan is most useful for skull lesions. There is hyperostosis and thickening of the skull base and obliteration of the paranasal sinuses, and occasionally encroachment of the cranial nerves causing hearing and vision impairment.  Plain radiographs of the appendicular skeleton show the characteristic "ground glass" appearance with thinning of the cortex.  There may be multiply deformed long bones. "Shepherd's crook" deformity of the femur is the most common cause of lower extremity shortening, and results from weakening of the bone from progressive microfractures.  In general, when PFD starts early in life, progression is marked, deformities are severe, and fractures are common. If the involvement is localized or sparse, the disease usually progresses slowly, and the outlook is favorable.
Café-au-lait spots in MAS usually, but not strictly demonstrate a "respect" for the mid-line, and have jagged borders, the so-called "coast of Maine" appearance. In neurofibromatosis on the other hand, their borders are smooth - coast of California.  Frequent locations are the nape of the neck and the crease at the apex of the buttocks. In our patient, they were present in the small of the back and crossed the mid-line.
Precocious puberty is the most common endocrine disturbance seen, and more so in females. It is gonadotrophin independent.  Hyperthyroidism is also common (38%), and so is renal phosphate wasting. Other abnormalities include growth hormone and prolactin excess, hyperparathyroidism and Cushing syndrome. All these should be measured for their serum concentrations. Only some (18%) patients with renal phosphate wasting demonstrate hypophosphatemia.  Serum calcium is usually normal. Alkaline phosphatase levels may be increased in patients with extensive skeletal involvement, as was the case with our patient. 
For craniofacial fibrous dysplasia, observation is usually the best approach, with annual hearing and vision testing, and imaging to monitor progression. In the appendicular skeleton, surgery is generally reserved for actual and impending pathologic fractures and deformity correction. Because recurrence rates are high after curettage and bone grafting, cortical bone grafts are preferred over cancellous grafts because of their slower resorption.  Bisphosphonates have been used with documented benefit in several series and are now recommended. , All endocrinopathies should be evaluated by a specialist and managed accordingly. It is important to monitor these patients periodically for a long period because all the lesions carry a risk for malignant transformation, although very low (<1%). 
| Review of Literature|| |
Bhadada et al. reviewed 25 patients with fibrous dysplasia, and found MAS in 10 (40%) of them. The most common endocrinopathy was acromegaly. There was no endocrinopathy in two patients with MAS. 
Kochar and Kulkarni have reported excellent outcome in terms of pain relief and quality of life in two children with MAS treated with pamidronate and calcium and vitamin-D supplements. They also recommended that therapy be started early to halt disease progression. 
Dumitrescu and Collins recommended bisphosphonates, along with muscle strengthening exercises around the involved bones. They also stated that scoliosis is common and may be progressive and should be looked for. They also advised that although the disease is nonheritable, genetic counseling should be offered to all patients, and their parents even if only to reassure them. 
Lee et al. followed 15 patients with MAS. Four developed hearing impairment, four females had precocious puberty and three patients developed persistent hyperthyroidism requiring ablative therapy. 
Gerqari et al. have reported a 52-year-old male who had multiple hyperpigmented macules on his body, and on skeletal scan was found to have PFD. He did have a history of multiple fractures in childhood. They did not mention about any endocrine abnormalities. ,,, [13,
| Conclusion|| |
We report this case to highlight that all patients diagnosed with fibrous dysplasia should be evaluated to rule out other manifestations of MAS. Fortunately for our patient, he did not have any endocrinopathies that we could find. He did however, have extensive involvement of his skeleton with FD. We feel that this extent of bony involvement is not very often seen, and the radiographs of this patient are very educating. Furthermore, it was surprising that he had not been diagnosed so far despite multiple hospitalizations.
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[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7], [Figure 8], [Figure 9], [Figure 10], [Figure 11]