A case report of McCune–Albright syndrome with hepatic manifestations. Issue 7 (19th July 2022)

• Record Type: Journal Article
• Authors: Haddadi, Mohammad; Lal Kheirkhah, Elahe; Ansari, Mojgan; Ahmadzade, Samieh; Taraz, Zeinab; Yazdi, Saeid
• Is Part Of: Clinical case reports. Volume 10:Issue 7(2022)
• Page Start: n/a
• Page End: n/a
• Publication Date: 2022-07-19
• Subjects: bone fibrous dysplasia -- GNAS gene mutation -- McCune–Albright syndrome -- neonatal cholestasis; Medicine -- Periodicals; 616.09
• DOI: 10.1002/ccr3.6077
• Languages: English
• ISSNs: 2050-0904

Abstract

Abstract: McCune–Albright syndrome is a non‐hereditary disease characterized by café‐au‐lait skin spots, fibrous dysplasia of bone, and endocrinopathies. We report a boy with a history of repeated hospitalizations from birth due to severe jaundice and hyperthyroidism. At the age of 2 years, he suffered from a proximal left femoral fracture. During the follow‐up, liver function tests were abnormal. Considering the clinical and paraclinical findings, the patient was diagnosed with McCune–Albright syndrome. Abstract : In McCune–Albright syndrome, functional mutations in the GNAS can cause a wide range of clinical phenotypes. Considering the previously reported cases and the mentioned case, neonatal jaundice can be an early sign of this syndrome.