Liver transplantation in defects of cholesterol biosynthesis: The case of lathosterolosis

P. L. Calvo, A. Brunati, M. Spada, R. Romagnoli, G. Corso, G. Parenti, M. Rossi, M. Baldi, G. Carbonaro, E. David, A. Pucci, A. Amoroso, M. Salizzoni

Research output: Contribution to journalArticlepeer-review


We report the outcome of liver transplantation (LT) in the only surviving patient with lathosterolosis, a defect of cholesterol biosynthesis characterized by high lathosterol levels associated with progressive cholestasis, multiple congenital anomalies and mental retardation. From her diagnosis at age 2 she had shown autistic behavior, was unable to walk unaided and her sight was impaired by cataracts. By age 7 she developed end-stage liver disease. After a soul-searching discussion within the transplantation team, she was treated with LT as this represented her only lifesaving option. At 1-year follow-up, her lathosterol levels had returned to normal (0.61mg/dL from 13.04±2.65) and her nutrition improved. She began exploring her environment and walking by holding onto an adult's hand and then independently. Her brain magnetic resonance imaging (MRI) had shown a normal picture at age 1, whereas a volume reduction of white matter with ex vacuo ventricular dilatation and defective myelinization were observed before transplant. At 5-year follow-up, a complete biochemical recovery, an arrest of mental deterioration and a stable MRI picture were achieved, with a return to her every day life albeit with limitations. Timely liver transplant in defects of cholesterol biosynthesis might arrest the progression of neurological damage.

Original languageEnglish
Pages (from-to)960-965
Number of pages6
JournalAmerican Journal of Transplantation
Issue number4
Publication statusPublished - 2014


  • Autism spectrum disorder
  • cholestasis
  • defects of cholesterol biosyntesis
  • lathosterolosis
  • liver transplantation

ASJC Scopus subject areas

  • Transplantation
  • Immunology and Allergy
  • Pharmacology (medical)
  • Medicine(all)


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