An eleven-year-old clinically dysmorphic and devel-opmentally retarded male child presenting with com-plaints of 5 episodes of recurrent cholestatic jaundice since 3 years of age was evaluated. Imaging revealed featur...An eleven-year-old clinically dysmorphic and devel-opmentally retarded male child presenting with com-plaints of 5 episodes of recurrent cholestatic jaundice since 3 years of age was evaluated. Imaging revealed features consistent with congenital extrahepatic porto-caval shunt(Abernethy type 1b), multiple regenerative liver nodules and intrahepatic biliary radical dilatation. The presence of ductal paucity and trisomy 8 were con-firmed on liver biopsy and karyotyping. The explanation for unusual and previously unreported features in the present case has been proposed.展开更多
BACKGROUND McCune–Albright syndrome(MAS)is caused by postzygotic somatic mutations of the GNAS gene.It is characterized by the clinical triad of fibrous dysplasia,caféau-lait skin spots,and endocrinological dysf...BACKGROUND McCune–Albright syndrome(MAS)is caused by postzygotic somatic mutations of the GNAS gene.It is characterized by the clinical triad of fibrous dysplasia,caféau-lait skin spots,and endocrinological dysfunction.Myriad complications in MAS,including hepatobiliary manifestations,are also reported.CASE SUMMARY This is a case of a 4-year-old boy who presented with MAS with neonatal cholestasis.He was suspected to have Alagille syndrome due to neonatal cholestasis with intrahepatic bile duct paucity in liver biopsy,peripheral pulmonary artery stenosis,and renal tubular dysfunction.By the age of 2 years,his cholestatic liver injury gradually improved,but he had repeated left femoral fractures.He did not exhibit endocrinological abnormality or café-au-lait skin spots.However,MAS was suspected due to fibrous dysplasia at the age of 4 years.No mutation was identified in the GNAS gene in the DNA isolated from the peripheral blood,but an activating point mutation(c.601C>T,p.Arg201Cys)was observed in the DNA extracted from the affected bone tissue and that extracted from the formalin-fixed paraffin-embedded liver tissue,which was obtained at the age of 1 mo.CONCLUSION MAS should be considered as a differential diagnosis for transient cholestasis in infancy.展开更多
文摘An eleven-year-old clinically dysmorphic and devel-opmentally retarded male child presenting with com-plaints of 5 episodes of recurrent cholestatic jaundice since 3 years of age was evaluated. Imaging revealed features consistent with congenital extrahepatic porto-caval shunt(Abernethy type 1b), multiple regenerative liver nodules and intrahepatic biliary radical dilatation. The presence of ductal paucity and trisomy 8 were con-firmed on liver biopsy and karyotyping. The explanation for unusual and previously unreported features in the present case has been proposed.
基金ORCID number:Yoshinori Satomura,ORCID number:0000-0002-0083-1774Corresponding author:Kazuhiko Bessho,MD,PhD,Associate Professor,Department of Pediatrics,Osaka University Graduate School of Medicine,2-2-D5 Yamada-oka,Suita City,Osaka 565-0871,Japan.bessho@ped.med.osaka-u.ac.jp,ORCID number:0000-0003-1684-2213+4 种基金Taichi Kitaoka,ORCID number:0000-0002-3531-884XShinji Takeyari,ORCID number:0000-0002-3627-1932Yasuhisa Ohata,ORCID number:0000-0001-6084-6620Takuo Kubota,ORCID number:0000-0003-4483-4405Keiichi Ozono,ORCID number:0000-0002-6517-8825.
文摘BACKGROUND McCune–Albright syndrome(MAS)is caused by postzygotic somatic mutations of the GNAS gene.It is characterized by the clinical triad of fibrous dysplasia,caféau-lait skin spots,and endocrinological dysfunction.Myriad complications in MAS,including hepatobiliary manifestations,are also reported.CASE SUMMARY This is a case of a 4-year-old boy who presented with MAS with neonatal cholestasis.He was suspected to have Alagille syndrome due to neonatal cholestasis with intrahepatic bile duct paucity in liver biopsy,peripheral pulmonary artery stenosis,and renal tubular dysfunction.By the age of 2 years,his cholestatic liver injury gradually improved,but he had repeated left femoral fractures.He did not exhibit endocrinological abnormality or café-au-lait skin spots.However,MAS was suspected due to fibrous dysplasia at the age of 4 years.No mutation was identified in the GNAS gene in the DNA isolated from the peripheral blood,but an activating point mutation(c.601C>T,p.Arg201Cys)was observed in the DNA extracted from the affected bone tissue and that extracted from the formalin-fixed paraffin-embedded liver tissue,which was obtained at the age of 1 mo.CONCLUSION MAS should be considered as a differential diagnosis for transient cholestasis in infancy.
