Complete Recovery of Oxysterol 7α-Hydroxylase Deficiency by Living Donor Transplantation in a 4-Month-Old Infant: the First Korean Case Report and Literature Review

• Published in: Journal of Korean medical science Vol. 33; no. 51; pp. e324 - 6
• Main Authors: Hong, Jeana, Oh, Seak Hee, Yoo, Han-Wook, Nittono, Hiroshi, Kimura, Akihiko, Kim, Kyung Mo
• Format: Journal Article
• Language: English
• Published: Korea (South) The Korean Academy of Medical Sciences 17.12.2018; 대한의학회
• Subjects: Case Report; 의학일반; Bile Acid Synthesis Defects; Liver Transplantation; Oxysterol 7-alpha-hydroxylase; Bile Acids and Salts
• ISSN: 1011-8934; 1598-6357; 1598-6357
• DOI: 10.3346/jkms.2018.33.e324

Oxysterol 7α-hydroxylase deficiency is a very rare liver disease categorized as inborn errors of bile acid synthesis, caused by mutations. As it may cause rapid progression to end-stage liver disease even in early infancy, a high index of suspicion is required to prevent fatal outcomes. We describe the case of a 3-month-old boy with progressive cholestatic hepatitis and severe hepatic fibrosis. After excluding other etiologies for his early liver failure, we found that he had profuse urinary excretion of 3β-monohydroxy-Δ -bile acid derivatives by gas chromatography/mass spectrometry analysis with dried urine spots on filter paper. He was confirmed to have a compound heterozygous mutation (p.Arg388Ter and p.Tyr469IlefsX5) of the gene. After undergoing liver transplantation (LT) from his mother at 4 months of age, his deteriorated liver function completely normalized, and he had normal growth and development until the current follow-up at 33 months of age. We report the first Korean case of oxysterol 7α-hydroxylase deficiency in the youngest infant reported to undergo successful living donor LT to date.