Rett症候群が併存した胆道閉鎖症葛西手術後患児に対し生体肝移植術を行った1例

抄録

The case is that of a 12-year-old girl. Kasai’s procedure was performed for biliary atresia on the 29th day of life. Liver failure gradually progressed, and she was referred to our hospital for living-donor liver transplantation (LDLT). She was genetically diagnosed with Rett syndrome at the age of 5, and due to the decline in motor function and language function associated with Rett syndrome, she was able to express emotion but she only spoke babblingly and could hardly communicate, and thought she was able to stand and walk, she was unstable. The movement of putting a fist in the mouth and bruxism, which are peculiar to patients with Rett syndrome, were frequently observed. Although she had autism due to Rett syndrome, the neurological and life prognosis of Rett syndrome was predicted to be good, and her family had a positive desire for liver transplantation and was available to cooperate in postoperative management. Based on the above, we judged that the case was suitable for LDLT and performed LDLT using a left lobe graft with caudate lobe with the father of the patient as a donor. Although Rett syndrome is a refractory mental and nervous system systemic progressive disease, the prognosis of liver cirrhosis is significantly worse than that of Rett syndrome in this case. Liver transplantation was acceptable, after balancing the potential risks and benefits.