title: Liver transplantation in defects of cholesterol biosynthesis: the case of lathosterolosis.
abstract: 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 (0.61 mg/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.
authors.affiliation: Department of Pediatrics, Azienda Ospedaliera Città della Salute e della Scienza, University of Turin, Turin, Italy.
authors.forename: P L
authors.initials: PL
authors.lastname: Calvo
authors.forename: A
authors.initials: A
authors.lastname: Brunati
authors.forename: M
authors.initials: M
authors.lastname: Spada
authors.forename: R
authors.initials: R
authors.lastname: Romagnoli
authors.forename: G
authors.initials: G
authors.lastname: Corso
authors.forename: G
authors.initials: G
authors.lastname: Parenti
authors.forename: M
authors.initials: M
authors.lastname: Rossi
authors.forename: M
authors.initials: M
authors.lastname: Baldi
authors.forename: G
authors.initials: G
authors.lastname: Carbonaro
authors.forename: E
authors.initials: E
authors.lastname: David
authors.forename: A
authors.initials: A
authors.lastname: Pucci
authors.forename: A
authors.initials: A
authors.lastname: Amoroso
authors.forename: M
authors.initials: M
authors.lastname: Salizzoni
mesh_terms: D000015:Abnormalities, Multiple / Q000517:prevention & control*; D002675:Child, Preschool; D002784:Cholesterol / Q000378:metabolism; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000517:prevention & control*; D016031:Liver Transplantation; D008279:Magnetic Resonance Imaging; D044925:Oxidoreductases Acting on CH-CH Group Donors / Q000172:deficiency* / Q000378:metabolism; D011379:Prognosis; D043202:Steroid Metabolism, Inborn Errors / Q000378:metabolism / Q000601:surgery*; D013577:Syndrome
chemical_list: C001521:lathosterol; D002784:Cholesterol; D044925:Oxidoreductases Acting on CH-CH Group Donors
keywords: Autism spectrum disorder; cholestasis; defects of cholesterol biosyntesis; lathosterolosis; liver transplantation