Scoliosis with peculiar radiological features in a patient w
Patients with McCune-Albright Syndrome (MAS) should always attend regular follow-up. Beside the endocrinological aspects, the screening must take into account osteoarticular complications such as scoliosis, even in patients without fibrous dysplasia.

M.A., female, was referred to pediatric endocrinology unit at the age of 5 years and 9 months for a clinical suspicion of MAS. Patient presented with prepubertal vaginal bleeding and clinical examination revealed a premature thelarche and three café au lait spots. Precocious pseudo-puberty was evidenced by suppressed levels of gonadotropins at gonadotropin-releasing hormone stimulation test and by the finding of an ovarian cyst on pelvic ultrasound.

As patient complained from lower limbs pain, bilateral X-ray of tibia and fibula was made, revealing areas of FD on proximal tibias. Bone scintigraphy did not document further lesions. Upon the presence of the classical triad (bone FD, café au lait skin macules, and precocious puberty), the patient had MAS diagnosis at the age of 6 years.

Blood chemistry showed normal serum calcium of 9.7 mg/dl, phosphate of 4.0 mg/dl, parathormone of 35.4 pg/mL, and alkaline phosphatase of 121 UI/l. Her thyroid function was normal, with thyroid-stimulating hormone (TSH) of 2.7 mIU/L and free T4 of 9.3 pg/mL. Insulin growth factor was within normal limits of 128.0 ng/mL. Likewise, prolactin was of 5.7 ng/mL. Her morning serum cortisol was 11.4 ?g/dL, and adrenocorticotropic hormone (ACTH) was 17.7 pg/mL.

By contrast, basal serum luteinizing hormone (LH) and follicle-stimulating hormone (FSH) values were suppressed, respectively, of 0.1 IU/L and 0.2 IU/L. After stimulation test with gonadotropin-releasing hormone, peak levels of LH and FSH were, respectively, of 1.8 IU/L and 2.1 IU/L. These latter values were indicative of a peripheral precocious puberty.

Since the patient showed a further episode of prepubertal bleeding, the adnexal mass found on pelvic ultrasound was surgically removed two months later and revealed an estradiol secreting ovarian cyst, causing the suppressed values of gonadotropins. A genetic testing was made on cystic fluid and peripheral blood, evidencing a GNAS gene mutation (R201C) and confirming therefore clinical diagnosis.

Ever since the time of MAS diagnosis, patient attended a yearly follow-up with periodical tests and instrumental investigations. The regular assessment of baseline TSH and thyroid hormones, prolactin, ACTH, and cortisol levels always resulted within the normal limits. Given that the cyst was removed, hormonal or medical treatment was not required and menarche occurred at 11.5 years.

To monitor the burden of skeletal involvement, bone scintigraphy was repeated once (when patient was 12 years old) during follow-up, but the examination did not evidence a progression of FD, or novel FD lesions. At the age of 21 years old, following a history of persistent back pain, the patient underwent spine radiographs that revealed spondylolisthesis at the L5-S1 level and dorsal scoliosis with left-sided convexity. Five years later (at the age of 26), she developed dyspnea associated with hemoptysis and underwent a chest X-ray that documented an abnormal enlargement of the aortic shadow.

Comparison with a chest X-ray made one year before revealed how the bulging of the aortic shadow had increased over one year. The clinical picture and radiological findings have thus led to emergency computed tomography (CT) angiogram, which showed a tortuosity of the aortic arch and descending aorta course and excluded life-threatening focal aortic aneurysm and aortic ectasia, based on vascular diameters. The Haller Index was calculated to evaluate the severity of the mediastinal narrowing and was 4.03. There was no hemodynamic alteration on Doppler echocardiography, and hemoptysis workup was also negative. Finally, bone scintigraphy did not reveal FD lesions of the spine.

Source: https://onlinelibrary.wiley.com/doi/10.1002/ccr3.4242?af=R
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