Altay Aliyev, Elgun Samadov, Arturan Ibrahimli, Akbar Hajiyev, Gunay Allahverdiyeva, Eldar Ahmadov
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...
December 27, 2023: Pediatric Transplantation