Liver transplantation in defects of cholesterol biosynthesis: the case of lathosterolosis.
Am J Transplant
; 14(4): 960-5, 2014 Apr.
Article
in En
| MEDLINE
| ID: mdl-24621408
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.
Key words
Full text:
1
Database:
MEDLINE
Main subject:
Abnormalities, Multiple
/
Liver Transplantation
/
Steroid Metabolism, Inborn Errors
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Oxidoreductases Acting on CH-CH Group Donors
/
Intellectual Disability
Type of study:
Prognostic_studies
Limits:
Child, preschool
/
Female
/
Humans
Language:
En
Journal:
Am J Transplant
Journal subject:
TRANSPLANTE
Year:
2014
Type:
Article
Affiliation country:
Italy