AI Summary & Key Takeaways
AI InsightWe report the case of a patient with Alström syndrome who presented to emergency department with esophageal varice- al bleeding and who was not known to have hepatic cirrhosis before.
📌 3 Key Takeaways
Abstract
Alström syndrome is a rare autosomal recessive genetic disorder characterized by cone-rod dystrophy, hearing loss, childhood trun- cal obesity, insulin resistance and hyperinsulinemia, type 2 diabetes, hypertriglyceridemia, short stature in adulthood, cardiomyo- pathy, and progressive pulmonary, hepatic, and renal dysfunction. Alström syndrome is a very rare cause of liver cirrhosis. Post- mortem biopsies of patients with Alström syndrome show relevant fibrosis in multiple organs especially in the liver, kidneys, heart, and lungs. We report the case of a patient with Alström syndrome who presented to emergency department with esophageal varice- al bleeding and who was not known to have hepatic cirrhosis before.
Özet
Alström sendromu çocukluk çağında trunkal obezite, insülin direnci ve hiperinsülinemi, tip 2 diyabet, hipertrigliseridemi, yetişkinlikte boy kısalığı, kardiyomyopati ve ilerleyici akciğer, karaciğer ve böbrek fonksiyon bozukluğu, işitme kaybı, gözde koni-çomak distrofisi ile karakterize otozomal resesif geçişli genetik bir hastalıktır. Alström sendromu karaciğer sirozunun oldukça nadir bir sebebidir. Alström sendromlu hastaların post-mortem biyopsilerinde karaciğer, böbrek, kalp ve akciğerler gibi birçok organda fibro- sis gösterilmiştir. Bilinen karaciğer sirozu olmayan ve acil servise özofagus varis kanaması ile başvuran Alström sendromlu bir vaka sunmaya çalıştık.