Liver transplantation in Crigler-Najjar syndrome type I disease.
BACKGROUND
Crigler-Najjar syndrome type I (CNS I) is a very rare autosomal recessive inherited disease that liver transplantation can properly deal with.


METHODS
We present one case of an 18-month-old child with CNS I diagnosed by clinical findings and genetic detecting. LTx was performed 5 days after kernicterus broke out and neurological symptoms were successfully reversed.


RESULTS
Magnetic resonance imaging and magnetic resonance spectroscopy showed encouraging results that brain pathology had a trend to return to normal in 1-year follow-up, combined with electroencephalogram and motor development estimate studies.


CONCLUSIONS
Liver transplantation can cure CNS I with reversible neurological symptoms to some extent in time. Magnetic resonance spectroscopy may be a future option of predicting brain conditions and selecting suitable patients with CNS I for transplantation.
Division of Hepatobiliary and Pancreatic Surgery, Department of Surgery, First Affiliated Hospital, Zhejiang University School of Medicine, Key Laboratory of Combined Multi-Organ Transplantation, Ministry of Public Health & Key Laboratory of Organ Transplantation of Zhejiang Province, Hangzhou 310003, China.
Zhen-Hua
ZH
Tu
De-Sheng
DS
Shang
Jin-Cai
JC
Jiang
Wu
W
Zhang
Min
M
Zhang
Wei-Lin
WL
Wang
Hai-Yan
HY
Lou
Shu-Sen
SS
Zheng
D001663:Bilirubin / Q000097:blood; D003414:Crigler-Najjar Syndrome / Q000097:blood / Q000473:pathology / Q000601:surgery*; D006801:Humans; D007231:Infant, Newborn; D016031:Liver Transplantation / Q000379:methods*; D008279:Magnetic Resonance Imaging; D008297:Male
D001663:Bilirubin