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: 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
• Journal: American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons (Am J Transplant) Vol. 14 Issue 4 Pg. 960-5 (Apr 2014) ISSN: 1600-6143 [Electronic] United States
• PMID: 24621408 (Publication Type: Case Reports, Journal Article)
• Copyright: © Copyright 2014 The American Society of Transplantation and the American Society of Transplant Surgeons.

Chemical References

• lathosterol
• Cholesterol
• Oxidoreductases Acting on CH-CH Group Donors

Topics

• Abnormalities, Multiple (prevention & control)
• Child, Preschool
• Cholesterol (metabolism)
• Female
• Humans
• Intellectual Disability (prevention & control)
• Liver Transplantation
• Magnetic Resonance Imaging
• Oxidoreductases Acting on CH-CH Group Donors (deficiency, metabolism)
• Prognosis
• Steroid Metabolism, Inborn Errors (metabolism, surgery)
• Syndrome