Pérez-Galaz F, Rea FG, Álvarez M, Rius R

Language: Spanish
References: 10
Page: 221-224
PDF size: 242.42 Kb.

ABSTRACT

Introduction: Alagille syndrome is a rare genetic disease, with an autosomal dominant pattern, occurs in one of every 100,000 live births. This syndrome is caused by a mutation in JAG1 causing renal, hepatic, cardiac, ocular and a «triangular face» with deep set eyes and a large forehead. The medical and/or surgical treatment of these patients depends on the clinical status and complications, and they are a great challenge for surgeons. Case report: A 23-year-old male patient with Alagille Syndrome was diagnosed at six years old. He presented with pain in the right hypochondrium and nausea without vomit. He refers that pain increases with meals high in cholecystokinetics, for the past two months. He was treated initially with omeprazole and antiacids. Physical examination was remarkable for a triangular facies, jaundice ++, thorax, with a loud systolic murmur, multifocal, abdomen distended with hepatomegaly 3 cm, painful at palpation of right hypochondrium, Murphy +, diminished peristaltism. Abdominal USG with macronodular cirrhosis, gallbladder sclera-athrophic gallbladder, wall of 6 mm, without lithiasis. Panendoscopy with 3 cm hiatal hernia type I and esophagitis A. Multiple hepatic cysts were found, so we decided to do an anterograde cholecystecomy, and resection of the two larger hepatic cysts. Conclusions: Until now, the impact on the presentation of cholecystitis and a consensus on the management of this in patients with Alagille Syndrome has not been reported. These patients usually are condemned to nonoperative management due to the complexity of the surgical procedure and surgical patients are treated by open surgery, increasing morbidity. We demonstrated that a patient with liver cirrhosis, simple cysts and Alagille Syndrome can be mannaged with a laparoscopic approach in expert hands.

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