Liver Transplantation in Defects of Cholesterol Biosynthesis: The Case of Lathosterolosis. Issue 4 (12th March 2014)

• Record Type: Journal Article
• Authors: Calvo, P. L.; Brunati, A.; Spada, M.; Romagnoli, R.; Corso, G.; Parenti, G.; Rossi, M.; Baldi, M.; Carbonaro, G.; David, E.; Pucci, A.; Amoroso, A.; Salizzoni, M.
• Is Part Of: American journal of transplantation. Volume 14:Issue 4(2014:Apr.)
• Page Start: 960
• Page End: 965
• Publication Date: 2014-03-12
• Subjects: Transplantation of organs, tissues, etc -- Periodicals; 617.95
• DOI: 10.1111/ajt.12645
• Languages: English
• ISSNs: 1600-6135

Abstract

<abstract abstract-type="main"> <title> <x xml:space="preserve">Abstract</x> </title> <sec id="ajt12645-sec-0001" sec-type="section"> <p>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 <italic>ex vacuo</italic> 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.</p> </sec> </abstract>