Zhen-Hua Tu1, De-Sheng Shang, Jin-Cai Jiang, Wu Zhang, Min Zhang, Wei-Lin Wang, Hai-Yan Lou, Shu-Sen Zheng. 1. 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.
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.
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: Xiaoxia Shi; Sem J Aronson; Lysbeth Ten Bloemendaal; Suzanne Duijst; Robert S Bakker; Dirk R de Waart; Giulia Bortolussi; Fanny Collaud; Ronald P Oude Elferink; Andrés F Muro; Federico Mingozzi; Giuseppe Ronzitti; Piter J Bosma Journal: Mol Ther Methods Clin Dev Date: 2020-12-03 Impact factor: 6.698