Liver transplantation in Crigler-Najjar syndrome type I disease
| Autor: | Wu Zhang, Min Zhang, Hai-Yan Lou, Weilin Wang, Jin-Cai Jiang, Shusen Zheng, Zhen-Hua Tu, De-Sheng Shang |
|---|---|
| Rok vydání: | 2012 |
| Předmět: |
Male
Pediatrics medicine.medical_specialty Pathology medicine.medical_treatment Disease Liver transplantation Crigler-Najjar syndrome type I Medicine Humans Crigler-Najjar Syndrome Hepatology medicine.diagnostic_test business.industry Gastroenterology Infant Newborn Magnetic resonance imaging Bilirubin medicine.disease Magnetic Resonance Imaging Liver Transplantation Transplantation Inborn error of metabolism Kernicterus Inherited disease business |
| Zdroj: | Hepatobiliarypancreatic diseases international : HBPD INT. 11(5) |
| ISSN: | 1499-3872 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full Text from ScienceDirect