Coexistence of Three Different Mutations in a Male Infant: neurofibromatosis Type 1, Progressive Familial Intrahepatic Cholestasis Type 2 and LPIN3

ALTAY D., Gorukmez O., ARSLAN D.

Fetal and Pediatric Pathology, vol.41, no.2, pp.293-298, 2022 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 41 Issue: 2
  • Publication Date: 2022
  • Doi Number: 10.1080/15513815.2020.1783405
  • Journal Name: Fetal and Pediatric Pathology
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, EMBASE, MEDLINE
  • Page Numbers: pp.293-298
  • Keywords: Neurofibromatosis, progressive familial intrahepatic cholestasis, LPIN3
  • Kayseri University Affiliated: No


© 2020 Taylor & Francis Group, LLC.Introduction The coexistence of progressive familial intrahepatic cholestasis type 2, failure to thrive due to an LPIN3 mutation, and stigmata of neonatal neurofibromatosis represents a complex diagnostic challenge. Case report: We present a child with cholestasis requiring hepatic transplantation, explained by the progressive familial intrahepatic cholestasis type 2, failure to thrive could be contributed to by the LPIN3 mutation, and skin findings along with the family history of the patient was due to neurofibromatosis type 1. Conclusion: Our case illustrates the complexities of multiple genetic mutations in a child.