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1. Liver transplantation in defects of cholesterol biosynthesis: the case of lathosterolosis.

Author

Calvo PL, Brunati A, Spada M, Romagnoli R, Corso G, Parenti G, Rossi M, Baldi M, Carbonaro G, David E, Pucci A, Amoroso A, and Salizzoni M

Subjects
Child, Preschool, Cholesterol metabolism, Female, Humans, Magnetic Resonance Imaging, Oxidoreductases Acting on CH-CH Group Donors metabolism, Prognosis, Steroid Metabolism, Inborn Errors metabolism, Syndrome, Abnormalities, Multiple prevention & control, Intellectual Disability prevention & control, Liver Transplantation, Oxidoreductases Acting on CH-CH Group Donors deficiency, Steroid Metabolism, Inborn Errors surgery
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., (© Copyright 2014 The American Society of Transplantation and the American Society of Transplant Surgeons.)

Published
2014
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2. Liver transplantation in defects of cholesterol biosynthesis: the case of lathosterolosis

Author

Massimiliano Rossi, P.L. Calvo, Marco Spada, Gaetano Corso, Andrea Brunati, Maurizio Baldi, Antonio Amoroso, Ezio David, Giancarlo Parenti, Renato Romagnoli, Angela Pucci, Mauro Salizzoni, Giulia Carbonaro, Calvo, Pl, Brunati, A, Spada, M, Romagnoli, R, Corso, G, Parenti, Giancarlo, Rossi, M, Baldi, M, Carbonaro, G, David, E, Pucci, A, Amoroso, A, and Salizzoni, M.

Subjects
medicine.medical_specialty, Oxidoreductases Acting on CH-CH Group Donors, Steroid Metabolism, Inborn Errors, medicine.medical_treatment, Lathosterol, Liver transplantation, White matter, chemistry.chemical_compound, Liver disease, Cataracts, Cholestasis, Internal medicine, Intellectual Disability, medicine, Immunology and Allergy, Humans, Pharmacology (medical), Abnormalities, Multiple, lathosterolosis, Transplantation, business.industry, Lathosterolosis, Syndrome, medicine.disease, Prognosis, Magnetic Resonance Imaging, Surgery, Liver Transplantation, inherited metabolic disorders, medicine.anatomical_structure, Cholesterol, chemistry, Child, Preschool, Cardiology, Female, liver transplantation, business
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.

Published
2013

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