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 (0.61mg/dL from 13.042.65) 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.

Autore Pugliese

• Corso Gaetano

Tutti gli autori

• 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

Titolo volume/Rivista

AMERICAN JOURNAL OF TRANSPLANTATION

Anno di pubblicazione

2014

ISSN

1600-6135

ISBN

Non Disponibile

Numero di citazioni Wos

3

Ultimo Aggiornamento Citazioni

Non Disponibile

Numero di citazioni Scopus

4

Ultimo Aggiornamento Citazioni

Non Disponibile

Settori ERC

Non Disponibile

Codici ASJC

Non Disponibile