Liver transplantation in Crigler-Najjar syndrome type I disease.

Abstract

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.

RESULT:

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.

• Authors: Zhen-Hua Tu, De-Sheng Shang, Jin-Cai Jiang, Wu Zhang, Min Zhang, Wei-Lin Wang, Hai-Yan Lou, Shu-Sen Zheng
• Journal: Hepatobiliary & pancreatic diseases international : HBPD INT (Hepatobiliary Pancreat Dis Int) Vol. 11 Issue 5 Pg. 545-8 (Oct 2012) ISSN: 1499-3872 [Print] Singapore
• PMID: 23060403 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Bilirubin

Topics

• Bilirubin (blood)
• Crigler-Najjar Syndrome (blood, pathology, surgery)
• Humans
• Infant, Newborn
• Liver Transplantation (methods)
• Magnetic Resonance Imaging
• Male