TY - JOUR
T1 - Severe steatohepatitis in a patient with a rare neutral lipid storage disorder due to ABDH5 mutation
AU - Ronchetti, Anna
AU - Prati, Daniele
AU - Pezzotta, Maria Grazia
AU - Tavian, Daniela
AU - Colombo, Roberto
AU - Callea, Francesco
AU - Colli, Agostino
PY - 2008/9
Y1 - 2008/9
N2 - Fatty liver disease is mainly caused by alcohol consumption, excessive body weight, dyslipidemia and impaired glucose tolerance, but inherited disorders can sometimes be involved. We report the case of a 40-year-old woman with steatohepatitis and severe portal hypertension, associated with ichthyosis, cataract and hypoacusia. The clinical, pathological and genetic findings were consistent with a diagnosis of Chanarin-Dorfman syndrome (CDS), a rare autosomal recessive inherited neutral lipid storage disorder, and genetic analysis showed that a novel ABHD5 mutation is responsible.
AB - Fatty liver disease is mainly caused by alcohol consumption, excessive body weight, dyslipidemia and impaired glucose tolerance, but inherited disorders can sometimes be involved. We report the case of a 40-year-old woman with steatohepatitis and severe portal hypertension, associated with ichthyosis, cataract and hypoacusia. The clinical, pathological and genetic findings were consistent with a diagnosis of Chanarin-Dorfman syndrome (CDS), a rare autosomal recessive inherited neutral lipid storage disorder, and genetic analysis showed that a novel ABHD5 mutation is responsible.
KW - Chanarin-Dorfman syndrome
KW - Ichthyosis
KW - Non-alcoholic steatohepatitis
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U2 - 10.1016/j.jhep.2008.05.027
DO - 10.1016/j.jhep.2008.05.027
M3 - Article
C2 - 18644654
AN - SCOPUS:48449106052
VL - 49
SP - 474
EP - 477
JO - Journal of Hepatology
JF - Journal of Hepatology
SN - 0168-8278
IS - 3
ER -