Liver transplantation in patient with Berardinelli-Seip syndrome: A literature review and case report.
Berardinelli-Seip
liver
transplantation
Journal
Pediatric transplantation
ISSN: 1399-3046
Titre abrégé: Pediatr Transplant
Pays: Denmark
ID NLM: 9802574
Informations de publication
Date de publication:
27 Dec 2023
27 Dec 2023
Historique:
revised:
26
10
2023
received:
07
09
2023
accepted:
07
12
2023
medline:
27
12
2023
pubmed:
27
12
2023
entrez:
27
12
2023
Statut:
aheadofprint
Résumé
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.
Sections du résumé
BACKGROUND
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
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.
DISCUSSION
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.
CONCLUSION
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.
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
e14680Informations de copyright
© 2023 Wiley Periodicals LLC.
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