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PP-021 Facial asymmetry and a rare disease; McCune-Albright syndrome
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  1. Selin Dinç Aktekin1,
  2. İlknur Kurt2,
  3. Serap Demircioğlu2
  1. 1Marmara University Faculty of Medicine
  2. 2Marmara University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Endocrinology

Abstract

Aim McCune-Albright syndrome (MAS) is a rare genetic disorder associated with somatic mutations in the GNAS gene. These mutations affect G protein-coupled adenylate cyclase (Gs-alpha) in tissues. The syndrome manifests with distinctive clinical features like brown lesions on the skin (cafe-au-lait spots), fibrous dysplasia, endocrinopathies, and precocious puberty. The goal of treatment is to control symptoms and minimize complications. Therefore, long-term follow-up and management are crucial for individuals diagnosed with MAS. The aim is to highlight which clinical features and physical examination findings should raise suspicion of McCune-Albright Syndrome (MAS) during pediatric assessment and to provide information about MAS

Material and Method A case diagnosed with McCune-Albright Syndrome (MAS) will be presented.

Results An 8-year old male patient, who had been diagnosed with a humeral shaft fracture was found to have fibrous dysplasia in the bone incidentally. The patient, with no significant features in the medical history, non-consanguineous parents, and no history of bone disease in the family, presented to our outpatient clinic. Upon examination, asymmetry in the face and two cafe-au-lait spots, not crossing the midline in the lumbosacral region, were noteworthy. No signs of precocious puberty were detected. Laboratory investigations didn’t reveal any endocrinopathy. Bone scintigraphy identified fibrous dysplasia in the humerus, vertebrae, tibia, and face. Cranial and maxilla tomography revealed fibrous dysplasia in the left half of the sphenoid, ethmoid, frontal bone, and maxilla (figure 1). Due to the history of fibrous dysplasia and physical examination findings, MAS was considered. The patient was referred to neurosurgery, ophthalmology and otolaryngology for further evaluation of potential systemic involvement. The patient is being monitored by our clinic for MAS complications and endocrinopathies.

Abstract PP-021 Figure 1

Fibroz Displasia and Facial asymmetri

Conclusions Patients with the rare disease McCune-Albright Syndrome may present in our professional lives with non-specific symptoms and complaints. Accelerating the diagnosis of rare diseases and preventing potential complications early can be achieved through physical examination, history-taking, and appropriate tests.

  • Endocrinopathy
  • Fibrous Dysplasia
  • McCune-Albright

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