Case report: Unusual and extremely severe lipoprotein X-mediated hypercholesterolemia in extrahepatic pediatric cholestasis.

Background: Lipoprotein X (LpX) - mediated extremely severe hyperlipidemia is a possible feature detectable in children with syndromic paucity of intralobular bile ducts (Alagille syndrome) but rarely in other types of intra- and/or extrahepatic infantile cholestasis. Case presentation: Here we report on a previously well 18-month child admitted for cholestatic jaundice and moderate hepatomegaly. Laboratory tests at entry showed conjugated hyperbilirubinemia, elevated values of serum aminotransferases, gamma-glutamyl transpeptidase (GGT) and bile acids (100 folds upper normal values). Extremely severe and ever-increasing hypercholesterolemia (total cholesterol up to 1,730 mg/dl) prompted an extensive search for causes of high GGT and/or hyperlipidemic cholestasis, including an extensive genetic liver panel (negative) and a liver biopsy showing a picture of obstructive cholangitis, biliary fibrosis, and bile duct proliferation with normal MDR3 protein expression. Results of a lipid study showed elevated values of unesterified cholesterol, phospholipids, and borderline/low apolipoprotein B, and low high-density lipoprotein-cholesterol. Chromatographic analysis of plasma lipoproteins fractions isolated by analytical ultracentrifugation revealed the presence of the anomalous lipoprotein (LpX). Magnetic resonance cholangiopancreatography and percutaneous transhepatic cholangiography showed stenosis of the confluence of the bile ducts with dilation of the intrahepatic biliary tract and failure to visualize the extrahepatic biliary tract. Surgery revealed focal fibroinflammatory stenosis of the left and right bile ducts confluence, treated with resection and bilioenteric anastomosis, followed by the rapid disappearance of LpX, paralleling the normalization of serum lipids, bilirubin, and bile acids, with a progressive reduction of hepatobiliary enzymes. Conclusion: We have described a unique case of focal non-neoplastic extrahepatic biliary stenosis of uncertain etiology, presenting with unusual extremely high levels of LpX-mediated hypercholesterolemia, a condition which is frequently mistaken for LDL on routine clinical tests.

Spontaneous common bile duct perforation in full term pregnancy: a rare case report and review of literature.

BACKGROUND: Spontaneous biliary system perforation is a rare presentation in clinical practice especially in adults. It is rarely suspected and diagnosed preoperatively due to small number of cases, vague sign and symptoms, and ambiguous presentation. CASE PRESENTATION: We describe an interesting case of spontaneous perforation of the common bile duct in a 16 year-old female who presented a week after her first birth to the emergency department with complaints of diffuse abdominal pain, abdominal distention, fever, vomiting, and constipation. She was having generalized peritonitis but the etiology was unclear despite a thorough workup. She underwent exploratory laparotomy, and a perforation in the supra duodenal region of the common bile duct was found intraoperatively. The common bile duct was repaired over T-tube, and cholecystectomy was performed; the patient was recovered uneventfully. CONCLUSION: Spontaneous biliary perforation is a rare cause of acute abdomen in adults and extremely rare in pregnancy. Its delayed diagnoses and management can lead to a high morbidity and mortality. All physicians, especially surgeons, should be aware of this possibility and consider it a cause of peritonitis on differential diagnosis particularly when there is no apparent etiology available for presentation.

Spontaneous biliary perforation in infancy: Management strategies and outcomes.

PURPOSE: Infantile spontaneous biliary perforation is rare with variable management strategies ranging from nonoperative treatment to complex operations such as biliary-enteric reconstruction. Biliary fistula and portal vein thrombosis are known complications, though outcomes are poorly defined. METHODS: We assessed the incidence of spontaneous biliary perforation in infants <1 year old using a population database. Next, we describe 4 patients treated at our institution and review all reported cases within the past 25 years. RESULTS: The incidence of spontaneous biliary perforation is 1.5 in 1,000,000 live births. Over the past 25 years, 90 cases were reported, over half of which were initially managed with a surgical drainage procedure. The most common reason for failure of this strategy was CBD obstruction. Our 4 patients were successfully managed without biliary reconstruction despite 2 presenting with CBD obstruction. Reported complications occurred in 22% of patients, most frequently biliary fistula requiring delayed biliary reconstruction. CONCLUSIONS: Surgical drainage is an effective method for treatment of infantile spontaneous biliary perforation; however a persistent biliary fistula should prompt evaluation for distal CBD obstruction. Though biliary-enteric anastomosis is the historic procedure of choice for persistent fistula, with improvements in endoscopic and percutaneous treatment, extensive biliary reconstruction may be avoided in the future.

Spontaneous biliary peritonitis in children.

Pediatric Spontaneous Bile duct perforation is a rare clinical condition with only around 150 cases reported worldwide. Early management gives excellent prognosis but the condition often presents a diagnostic dilemma. Hepato-biliary Technetium-99m-iminodiacetic acid scintiscan is the diagnostic investigation of choice but its availability in third world countries is limited. We present two cases of spontaneous biliary peritonitis in children, which were diagnosed without scintiscanning. The first case was a one-and -a half-year-old child, who was diagnosed with biliary peritonitis without pneumoperitoneum by a combination of Ultrasound (USG), Contrast enhanced computed tomography (CECT), and Magnetic Resonance Imaging (MRI). The child underwent USG-guided drainage and subsequent cholecystectomy with hepatico-jejunostomy. The second child also had biliary peritonitis without pneumoperitoneum, which was initially suspected on USG. CECT revealed dilated gall bladder and fluid collection in sub-hepatic space and pelvis. Abdominal paracentesis revealed presence of bile. The child responded to conservative therapy. Both are doing well on two-year follow-up. In a patient with jaundice, biliary tract abnormalities and/or free fluid, either generalized or localized to peri-cholecystic/sub-hepatic space on USG/CT/MRI, in the absence of pneumoperitoneum, suggest a diagnosis of biliary perforation even in the absence of scintiscanning.

Spontaneous Biliary Perforations: An Uncommon yet Important Entity in Children.

Spontaneous or idiopathic biliary perforations are an infrequently encountered but an important cause of surgical jaundice in paediatric patients and one of the most common causes of surgical jaundice in infancy. A pre-operative diagnosis with a clinical history and physical findings may not be possible in most of the cases. The exact cause of the perforation remains unclear and the diagnosis is made at the time of laparotomy for an acute abdomen. An early, efficient and an effective surgical management is associated with a good prognosis; however, a delay in the correct diagnosis or an inappropriate management may result in bacterial contamination of the biliary ascites, with an unfavourable outcome. The relative rarity of this condition is reflected by the very few case reports, limited case studies and scarcity of published literature.