Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2024 Feb;28(1):e14680.
doi: 10.1111/petr.14680. Epub 2023 Dec 27.

Liver transplantation in patient with Berardinelli-Seip syndrome: A literature review and case report

Altay Aliyev  1 , Elgun Samadov  1 , Arturan Ibrahimli  1 , Akbar Hajiyev  1 , Gunay Allahverdiyeva  1 , Eldar Ahmadov  1
Affiliations
Review

Liver transplantation in patient with Berardinelli-Seip syndrome: A literature review and case report

Altay Aliyev et al. Pediatr Transplant. 2024 Feb.

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.

Case report: 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.

Discussion: 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.

Conclusion: 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.

Keywords: Berardinelli-Seip; liver; transplantation.

PubMed Disclaimer

References

REFERENCES

    1. Berardinelli W. An undiagnosed endocrinometabolic syndrome: report of 2 cases. J Clin Endocrinol Metab. 1954;14(2):193-204. doi:10.1210/jcem-14-2-193
    1. Seip M, Trygstad O. Generalized Lipodystrophy. Arch Dis Child. 1963;38(201):447-453. doi:10.1136/adc.38.201.447
    1. Hegele RA. Monogenic forms of insulin resistance: apertures that expose the common metabolic syndrome. Trends Endocrinol Metab. 2003;14(8):371-377. doi:10.1016/s1043-2760(03)00142-5
    1. Westvik J. Radiological features in generalized lipodystrophy. Acta Paediatr Suppl. 1996;413:44-51. doi:10.1111/j.1651-2227.1996.tb14265.x
    1. Agarwal AK, Simha V, Oral EA, et al. Phenotypic and genetic heterogeneity in congenital generalized lipodystrophy. J Clin Endocrinol Metab. 2003;88(10):4840-4847. doi:10.1210/jc.2003-030855