Neonatal cholestasis can be the first symptom of McCune–Albright syndrome: A case report

• DOI: 10.5409/wjcp.v10.i2.7
• Publication Date: 2021-03-08T02:17:05Z
• Authors: Yoshinori Satomura; Kazuhiko Bessho; Taichi Kitaoka; Shinji Takeyari; Yasuhisa Ohata; Takuo Kubota; Keiichi Ozono
• Keywords: McCune–Albright syndrome

Background McCune-Albright syndrome (MAS) is caused by postzygotic somatic mutations of the GNAS gene. It characterized clinical triad fibrous dysplasia, cafe-au-lait skin spots, and endocrinological dysfunction. Myriad complications in MAS, including hepatobiliary manifestations, are also reported. Case summary This a case 4-year-old boy who presented with MAS neonatal cholestasis. He was suspected to have Alagille due cholestasis intrahepatic bile duct paucity liver biopsy, peripheral pulmonary artery stenosis, renal tubular By age 2 years, his cholestatic injury gradually improved, but he had repeated left femoral fractures. did not exhibit abnormality or spots. However, dysplasia at 4 years. No mutation identified gene DNA isolated from blood, an activating point (c.601C>T, p.Arg201Cys) observed extracted affected bone tissue that formalin-fixed paraffin-embedded tissue, which obtained 1 mo. Conclusion should be considered as differential diagnosis for transient infancy.