Abstract：
BACKGROUND: 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.
METHODS: 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.
CONCLUSIONS: 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.
CONCLUSIONS: 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.
METHODS: 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.
CONCLUSIONS: 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.
CONCLUSIONS: 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.
摘要：
背景：Berardinelli-Seip综合征是一种罕见且可能致命的遗传性疾病，其特征是缺乏脂肪组织。在这里，我们报道了1例7岁女孩因Berardinelli-Seip综合征引起肝硬化而进行的首次肝移植。
方法：体格检查显示突出的皮下脂肪组织丢失和轻度肌肉肥大，给她一个苗条的外表，多毛症,浓密的头发,与身体形成对比的大头，低前发际线，icterus,突出的面部轮廓,突出的下颌骨,口腔脂肪的损失，低耳朵，和四肢很大。诊断后,她因食管静脉曲张破裂出血和肝酶升高而入院。手术团队做出了移植决定，并进行了原位肝移植。
结论：Berardinelli-Seip综合征患者的常见死亡原因是感染和肝硬化。患者死亡时的平均年龄为27.1岁。到目前为止，尚无任何已确定的治疗先天性脂肪营养不良的方法。然而,发现一些对症治疗方法是有帮助的。要讨论的病例报告的要点是我们的手术团队进行的肝移植。在Berardinelli-Seip综合征患者中没有任何移植的例子，但是可以发现一些关于肾或肝衰竭患者的报告。
结论：Berardinelli-Seip综合征是一种罕见的疾病，无法治愈，但有机会改善生活方式和预期寿命。在进行多学科审查后，应在年轻患者中考虑移植选择。
方法：体格检查显示突出的皮下脂肪组织丢失和轻度肌肉肥大，给她一个苗条的外表，多毛症,浓密的头发,与身体形成对比的大头，低前发际线，icterus,突出的面部轮廓,突出的下颌骨,口腔脂肪的损失，低耳朵，和四肢很大。诊断后,她因食管静脉曲张破裂出血和肝酶升高而入院。手术团队做出了移植决定，并进行了原位肝移植。
结论：Berardinelli-Seip综合征患者的常见死亡原因是感染和肝硬化。患者死亡时的平均年龄为27.1岁。到目前为止，尚无任何已确定的治疗先天性脂肪营养不良的方法。然而,发现一些对症治疗方法是有帮助的。要讨论的病例报告的要点是我们的手术团队进行的肝移植。在Berardinelli-Seip综合征患者中没有任何移植的例子，但是可以发现一些关于肾或肝衰竭患者的报告。
结论：Berardinelli-Seip综合征是一种罕见的疾病，无法治愈，但有机会改善生活方式和预期寿命。在进行多学科审查后，应在年轻患者中考虑移植选择。
