Neonatal onset of Niemann-Pick disease type C in a patient with cholesterol re-accumulation in the transplanted liver and inflammatory bowel disease

Brain Dev. 2023 Oct;45(9):517-522. doi: 10.1016/j.braindev.2023.06.006. Epub 2023 Jul 8.


Background: Niemann-Pick disease type C (NPC) is an autosomal recessive inherited and neurodegenerative disorder. Approximately 10% of NPC patients have acute liver failure and sometimes need liver transplantation (LT), and 7% reportedly develop inflammatory bowel disease (IBD). We report the case of a girl with NPC who had a re- accumulation of cholesterol in the transplanted liver and NPC-related IBD.

Case report: The patient underwent living donor liver transplantation (LDLT) due to severe acute liver failure caused by an unknown etiology inherited from her father. At 1 year and 6 months (1Y6M), she developed neurological delay, catalepsy, and vertical supranuclear gaze palsy. The foam cells were found in her skin, and fibroblast Filipin staining was positive; hence, she was diagnosed with NPC. It was identified that her father had NPC heterozygous pathogenic variant. At 2 years, she had anal fissure, skin tag and diarrhea. She was diagnosed with NPC-related IBD, using a gastrointestinal endoscopy. Three years after LT, liver biopsy revealed foam cells and numerous fatty droplets. At 8 years, broken hepatocytes and substantial fibrosis were observed. She died from circulation failure due to hypoalbuminemia at 8Y2M.

Conclusions: In NPC, load of cholesterol metabolism is suggested to persist even after LT. LDLT from NPC heterozygous variant donor was insufficient to metabolize cholesterol overload. In NPC patients, the possibility of cholesterol re-accumulation should be considered when LT is performed. NPC-related IBD should be considered when NPC patients have anorectal lesions or diarrhea.

Keywords: Liver transplantation; NPC-related IBD; Neonatal acute liver failure; Niemann-Pick type C; Re-accumulation of cholesterol.

Publication types

  • Case Reports

MeSH terms

  • Cholesterol / metabolism
  • Female
  • Humans
  • Infant, Newborn
  • Inflammatory Bowel Diseases* / complications
  • Liver Failure, Acute*
  • Liver Transplantation*
  • Living Donors
  • Niemann-Pick Disease, Type C* / complications
  • Niemann-Pick Disease, Type C* / diagnosis


  • Cholesterol