ACUTE ON CHRONIC LIVER DISEASE IN A CHILD WITH SCYL1 MUTATION: A RARE PEDIATRIC CASE REPORT

Authors

  • DR. SUENERA PAEDIATRICS ,SAVEETHA MEDICAL COLLEGE ANDHOSPITAL, SAVEETHA INSTITUTE OF MEDICAL AND TECHNICALSCIENCES(SIMATS),SAVEETHAUNIVERSITY,CHENNAI ,INDIA
  • DR. NAVINUMAPATHY PAEDIATRICS ,SAVEETHA MEDICAL COLLEGE ANDHOSPITAL, SAVEETHA INSTITUTE OF MEDICAL AND TECHNICALSCIENCES(SIMATS),SAVEETHAUNIVERSITY,CHENNAI ,INDIA
  • DR.DEVANAND GULAB CHAUDHARY PAEDIATRICS, SAVEETHA MEDICAL COLLEGE AND HOSPITAL, SAVEETHA INSTITUTE OF MEDICAL AND TECHNICAL SCIENCES(SIMATS), SAVEETHA UNIVERSITY, CHENNAI ,INDIA
  • DR.PRADEEP S PAEDIATRICS, SAVEETHA MEDICAL COLLEGE AND HOSPITAL, SAVEETHA INSTITUTE OF MEDICAL AND TECHNICAL SCIENCES(SIMATS), SAVEETHA UNIVERSITY, CHENNAI ,INDIA
  • DR. NARAYANA REDDY PROFESSOR, DEPARTMENT OF PROSTHODONTICS AND CROWN & BRIDGE, SREE BALAJI DENTAL COLLEGE & HOSPITAL, CHENNAI, INDIA

Abstract

We report a case of a 6-year-old girl with a novel homozygous SCYL1 frameshift mutation presenting with acute on chronic liver disease, coagulopathy, and features suggestive of progressive familial intrahepatic cholestasis (PFIC). Her presentation was complicated by fever, cholestatic jaundice, and bleeding, requiring PICU management. Genetic analysis confirmed a likely pathogenic SCYL1 variant and a homozygous LPAR6 mutation explaining associated hair abnormalities. This case highlights the evolving spectrum of SCAR21 and reinforces the need for genetic testing in pediatric liver failure.

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How to Cite

SUENERA, D., NAVINUMAPATHY, D., CHAUDHARY, D. G., S, D., & REDDY, D. N. (2025). ACUTE ON CHRONIC LIVER DISEASE IN A CHILD WITH SCYL1 MUTATION: A RARE PEDIATRIC CASE REPORT. TPM – Testing, Psychometrics, Methodology in Applied Psychology, 32(S1 (2025): Posted 12 May), 1209–1214. Retrieved from https://tpmap.org/submission/index.php/tpm/article/view/755

Issue

Vol. 32 No. S1 (2025): Posted 12 May (2025): Posted: 12 May 2025

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Articles

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