Liver transplantation in rare late-onset ornithine transcarbamylase deficiency with central nervous system injury: A case report and review of the literature

Jin, Xin; Zeng, Xinchen; Zhao, Dong; Jiang, Nan1,2

2022-09-01

10.1002/brb3.2765

Brain and Behavior   Impact Factor & Quartile

2162-3279

Background Ornithine transcarbamylase deficiency (OTCD) is a genetic metabolic disease. Its clinical manifestations are mainly central nervous system dysfunction caused by high blood ammonia. Late-onset OTCD combined with central nervous system injury has a poor therapeutic response, which is one of the main factors affecting the prognosis and quality of life of patients. liver transplantation (LT) has gradually become a radical treatment for OTCD, which has achieved good results. However, there is no consensus on the timing of LT and problems of nervous system damage and repair. Methods We report the development of late-onset OTCD with central nervous system injury in an 11-year-old child who received liver transplantation at our transplant center. His first symptoms were nonprojectile vomiting, followed by irritability and disturbance of consciousness, after which the disease progressed rapidly and finally resulted in a coma. After liver transplantation, the child's consciousness returned to normal, muscle strength of the limbs gradually recovered from grade 0 to grade 4, and muscle tone gradually recovered from grade 4 to grade 1, suggesting that the motor nerves had gradually recovered. However, the child is currently mentally retarded, and the language center has not yet fully recovered.At the same time, we made a literature review of OTCD. Conclusion For OTCD patients with central nervous system injury, liver transplantation can fundamentally solve the problem of ammonia metabolism in the liver and avoids further damage to the central nervous system caused by hyperammonemia. At the same time, children's nervous systems are in the developmental stage when neuroplasticity is greatest. If liver transplantation is performed as soon as possible, nerve repair is still possible.

central nervous system injury hydrocephalus hyperammonemia liver transplantation ornithine transcarbamylase deficiency

SCI

English

Corresponding

Science and Technology Program of Shenzhen, China[JCYJ20190809165813331] ; National Natural Science Foundation of China[81871999] ; Shenzhen KeyMedical Discipline Construction Fund[SZXK079]

Behavioral Sciences ; Neurosciences & Neurology

Behavioral Sciences ; Neurosciences

WOS:000855752600001

WILEY

Web of Science

1.Southern Univ Sci & Technol, Natl Clin Res Ctr Infect Dis, Affiliated Hosp 2, Shenzhen Peoples Hosp 3,Div Liver Surg, 29 Bulan Rd, Shenzhen 518112, Guangdong, Peoples R China
2.Southern Univ Sci & Technol, Natl Clin Res Ctr Infect Dis, Affiliated Hosp 2, Shenzhen Peoples Hosp 3,Organ Transplantat Ctr, 29 Bulan Rd, Shenzhen 518112, Guangdong, Peoples R China

Jin, Xin,Zeng, Xinchen,Zhao, Dong,et al. Liver transplantation in rare late-onset ornithine transcarbamylase deficiency with central nervous system injury: A case report and review of the literature[J]. Brain and Behavior,2022.

Jin, Xin,Zeng, Xinchen,Zhao, Dong,&Jiang, Nan.(2022).Liver transplantation in rare late-onset ornithine transcarbamylase deficiency with central nervous system injury: A case report and review of the literature.Brain and Behavior.

Jin, Xin,et al."Liver transplantation in rare late-onset ornithine transcarbamylase deficiency with central nervous system injury: A case report and review of the literature".Brain and Behavior (2022).