Liv Bona Dea Hospital, Baku, Azerbaijan.
Pediatr Transplant. 2024 Feb;28(1):e14680. doi: 10.1111/petr.14680. Epub 2023 Dec 27.
Berardinelli-Seip syndrome is an infrequently seen and potentially fatal genetic disorder characterized by the absence of adipose tissue. Herein, we report a first-in-literature liver transplant done on a 7-year-old girl because of liver cirrhosis caused by the Berardinelli-Seip syndrome.
Physical examination showed prominent subdermal fat tissue loss and mild muscle hypertrophy, giving her a slim appearance, hirsutism, thick hair, a large head in contrast to the body, low anterior hairline, icterus, prominent facial contours, prominent mandibula, loss of buccal fat, low set ears, and large limbs. After the diagnosis, she admitted to our clinic because of variceal esophageal bleeding and increasing liver enzymes. Transplantation decision was made and orthothopic liver transplantation done by the surgery team.
Common causes of death in Berardinelli-Seip syndrome patients are infections and liver cirrhosis. The mean age of the patients was 27.1 at the time of death. There is no any established cure for congenital lipodystrophies so far. However, some symptomatic treatment methods are found to be helpful. The main point of the case report to be discussed is the liver transplantation done by our surgical team. There are no examples of any transplantation in Berardinelli-Seip syndrome patients, but several reports can be found of patients with kidney or liver failure.
Berardinelli-Seip syndrome is a rare disorder with no cure but a chance of improving lifestyle and life expectancy. The transplantation option should be considered in young patients after a multidisciplinary review.
伯-塞二氏综合征是一种罕见的遗传性疾病，以缺乏脂肪组织为特征，可能致命。本文报告了首例因伯-塞二氏综合征导致肝硬化而进行的肝移植，该患者为一名 7 岁女孩。
体格检查显示皮下脂肪组织明显缺失伴轻度肌肉肥大，使她呈现出消瘦的外观、多毛症、粗厚的毛发、大头与身体不成比例、前发际线低、黄疸、轮廓突出、下颌突出、颊脂垫消失、耳朵位置低、四肢大。确诊后，她因食管静脉曲张出血和肝酶升高而入住我院。经多学科讨论后决定进行移植，并由外科团队进行原位肝移植。
伯-塞二氏综合征患者的常见死因是感染和肝硬化。患者死亡时的平均年龄为 27.1 岁。目前尚无针对先天性脂肪营养不良的既定治疗方法，但一些对症治疗方法被发现是有帮助的。病例报告讨论的重点是我们外科团队进行的肝移植。虽然在伯-塞二氏综合征患者中没有进行过任何移植的例子，但可以找到一些患有肾衰竭或肝功能衰竭的患者的报告。
伯-塞二氏综合征是一种罕见的疾病，尚无治愈方法，但可以通过改善生活方式和延长预期寿命来提高生活质量。在多学科评估后，应考虑为年轻患者提供移植选择。
