Clinical Case Summary

We present the case of a 49-year-old woman with a 10-year history of coxalgia. Initial lumbar MRI revealed a soft tissue increase in the presacral area, prompting a CT scan, which identified a presacral mass and three liver lesions. Subsequent dynamic liver MRI confirmed three hypervascular lesions. A core needle biopsy confirmed neuroendocrine tumor metastasis despite negative tumor markers and a positive somatostatin receptor scan.
The case is presented in a multidisciplinary committee, which initially decided to remove the presacral mass by minimally invasive transanal surgery and laparoscopic right hepatectomy. Subsequently, the treatment was completed with twenty-five sessions of radiotherapy on the presacral bed and somatostatin analogs, all of which were well tolerated by the patient.
Neuroendocrine tumors of unknown origin, as is the case of our patient, are usually well-differentiated tumors and often present as liver metastases. In many of them, the primary site is identified as a posteriori in the intestinal tract or pancreas. Both to guide treatment and to try to direct the search for the primary tumor, multiple imaging tests, a complete endoscopic study, a study of somatostatin receptors and an analysis of tumor markers must be performed. In patients with symptoms suggestive of carcinoid syndrome, it is interesting to measure urinary levels of 5-hydroxyindoleacetic acid.
The treatment of well-differentiated neuroendocrine tumors of unknown primary is treated similarly to those of gastrointestinal origin. Thus, depending on the clinical situation, the surgical option must be evaluated. For tumors that express somatostatin receptors, the use of somatostatin analogs should be considered and the growing role of radiotherapy with peptide receptors should even be taken into account, which uses radiolabeled somatostatin analogs with excellent results so far.

References

1. Carrillo D, Muñoz-Medel M, Retamal I, Pinto M, Bravo ML, Nervi B, Peña J, Valenzuela Y, Guarda FJ, Nilo F, Bello F, Orellana P, Vicentini D, Quintana JC, Torres PJ, Leal JL, Garrido M. Tumores Neuroendocrinos: un desafío transversal [Update on neuroendocrine tumors]. Rev Med Chil. 2021 Jun;149(6):888-898. Spanish. doi: 10.4067/s0034-98872021000600888. PMID: 34751348.
2. Sanz Viedma S, Alors Ruiz J, Roldán de la Rua J, Ortega Lozano S, Osorio Fernández D, Suárez Muñoz MA. Metastatic neuroendocrine neoplasia of unknown origin: From uncertainty in diagnostic imaging to the accuracy of radioguided laparoscopic surgery. Rev Esp Med Nucl Imagen Mol (Engl Ed). 2021 Apr 16:S2253-654X(21)00069-X. English, Spanish. doi: 10.1016/j.remn.2021.02.019. Epub ahead of print. PMID: 33875402.
3. Spigel DR, Hainsworth JD, Greco FA. Carcinoma neuroendocrino de sitio primario desconocido. Semin Oncol 2009; 36:52.
4. Wang SC, Parekh JR, Zuraek MB, et al. Identificación de tumores primarios desconocidos en pacientes con metástasis hepáticas neuroendocrinas. Arco Surg 2010; 145:276.
5. Strosberg JR, Nasir A, Hodul P, Kvols L. Biología y tratamiento de tumores neuroendocrinos gastrointestinales metastásicos. Cáncer gastrointestinal Res 2008; 2:113.

Clinical Case Summary

A 66-year-old female with a history of prior stroke presented with generalized weakness. She was disoriented and unable to provide a reliable history. She was febrile and tachycardic, and labs were notable for elevated direct bilirubin and liver enzymes. Physical exam was notable for right upper quadrant tenderness and well-healed scarring consistent with prior abdominal surgery. CT abdomen showed intrahepatic micro-abscesses and MRI revealed a cystic duct–duodenal fistula. Due to the patient’s clinical improvement with antibiotics, she was able to be discharged with a plan for outpatient ERCP. Due to issues with insurance coverage following discharge, the patient was lost to follow-up.
This is a rare presentation of a cysto-duodenal fistula that was the source of cholangitis and hepatic micro-abscesses resulting in sepsis. The incidence of cysto-duodenal fistulas is unknown, though fewer than 12 case reports of cystic duct-enteric fistulas have been published. The formation of a fistula can occur after cholecystectomy, involving a persistent cystic duct remnant that can become obstructed by calculi, leading to increased pressure and subsequent fistulization. It can present within days to years following cholecystectomy. This patient’s surgical history was unclear due to her altered mental status and a lack of records, though she had abdominal scarring and imaging findings that were consistent with prior cholecystectomy. It was confirmed that the patient did not have any recent abdominal procedure or cholecystectomy, making her presentation even rarer. Patients with a cysto-duodenal fistula typically present with signs of biliary sepsis, like in this case. ERCP is both a key diagnostic and therapeutic tool, as management of the fistula may involve interventions such as sphincterotomy and stenting to relieve obstruction. If endoscopic management is unsuccessful or if symptoms recur, surgical intervention may be necessary.

References

CT abdomen showed multiple small irregular hypodense lesions concerning for intrahepatic micro-abscesses. MRI was performed for further characterization and revealed inflammatory changes of the cystic duct stump with high suspicion for cystic duct–duodenal fistula and hepatic micro-abscesses (most notable in segment VII) with no drainable abscess.

Clinical Case Summary

A 75-year-old male with a history of ischaemic heart disease, pulmonary embolism and ischaemic stroke is referred to gastroenterology with weight loss, epigastric pain and reduced appetite. Bloods reveal mild thrombocytosis (546 x10^9/L). CT chest, abdomen and pelvis demonstrates extensive portal venous thrombosis with collateralisation, small volume ascites, and mild intrahepatic duct dilatation. There is splenomegaly with no signs of chronic liver disease. OGD reveals no varices. Liver screen bloods are negative. Warfarin is commenced. The patient later presents to hospital with abdominal pain and jaundice. Bloods reveal bilirubin 60 umol/L, ALT 131 U/L and ALP 627 U/L. CT abdomen and pelvis demonstrates ascites, progressive intrahepatic duct dilatation, with the portal vein recanalizing. MRCP suggests a soft tissue mass causing CBD compression. Ca19-9 is normal range (30 kU/L), but the differential diagnosis of intraductal cholangiocarcinoma is considered. ERCP revealed a spindly appearance of the biliary tree and an ovoid mass at the junction of the cystic duct causing obstruction. Brushings were taken and plastic stent was placed. Haemobilia occurred following brushings. Brushings cytology is negative for malignant cells. Diagnostic ascitic paracentesis identifies no malignant cells and a serum ascites albumin gradient of 22 g/L. FDG PET scan reveals no focus of tracer uptake. An endoscopic ultrasound is performed which reveals choledochal varices as the cause of biliary obstruction. An indwelling tunnelled peritoneal drain is placed for symptom management of diuretic refractory ascites. From a haematological perspective he is commenced on hydroxycarbamide after a thrombophilia screen reveals a JAK2 V617F mutation. He continues on warfarin. The plastic stent is changed to a metal stent at a further ERCP. This case is notable for potential for choledochal varices to be confused for malignant biliary strictures and highlights the value of EUS in their diagnosis.

References

Images to be used:
1) Initial CT chest abdomen and pelvis at time of referral
2) Second CT abdomen and pelvis as inpatient demonstrating progressive ascites and new biliary dilatation
3) MRCP prior to initial ERCP suggesting soft tissue mass causing biliary obstruction
4) ERCP images from first procedure
5) FDG PET scan images
6) Generic EUS images for choledochal varices – we do not have access to the actual EUS of the choledochal varices of this patient, but instead would use other images to demonstrate similar findings

Clinical Case Summary

A 48-year-old man underwent an endoscopic retrograde cholangiopancreatography (ERCP) due to acute cholangitis and choledocholithiasis. During the procedure sphincterotomy and extraction of gallstones from the common bile duct were performed. However, biliary cannulation was difficult with involuntary pancreatic injection and prophylactic pancreatic stent placement. Following ERCP, the patient developed mild abdominal pain, bilious vomiting, and melena. Physical examination was unremarkable except for mild epigastric tenderness. He was hemodynamically stable and subfebrile. Blood tests showed a 4gr/dL hemoglobin drop and a moderate rise in pancreatic enzyme levels. An urgent duodenoscopy revealed a huge bulging mass associated with the intestinal wall of the duodenum, congestive and swelling, conditioning luminal obstruction, suggestive of a hematoma (Fig. 1A). An abdominal angio-CT scan confirmed the presence of a massive duodenal wall hematoma, measuring at least 10cm, without signs of active bleeding (Fig. 2A). The patient was managed conservatively with close clinical assessment. Four days later, an upper endoscopy was performed to extract the pancreatic stent and showed a less hemorrhagic bulge, although the duodenum was still severely swollen (Fig. 1B). The patient presented a favorable global evolution and was discharged twelve days later. An abdominal CT scan four weeks later revealed complete resorption of the hematoma (Fig. 2B).
Intramural duodenal hematoma (IDH) is a very rare condition after endoscopic intervention and is typically caused by blunt trauma from the endoscope. IDH generally resolves spontaneously with supportive management. Nevertheless, occasionally, it requires percutaneous, endoscopic, or surgical drainage. This case report illustrates an unexpected and massive complication after ERCP that was managed successfully with a conservative approach. Thus, invasive procedures, with significant morbidity and mortality, were avoided.

Clinical Case Summary

We present a 58-year-old man with a history of cardiovascular risk factors, tobacco and previous alcohol abuse, chronic liver disease, and chronic calcifying pancreatitis, with multiple episodes of acute on chronic exacerbations.
In one admission, his pancreatic disease was complicated by a gastroduodenal 4cm-length gastroduodenal artery branch pseudoaneurysm, for which he underwent an endovascular embolization with coils.
Four years later, he presented with mild acute cholangitis, being admitted to the Gastroenterology department. Abdominal ultrasound and magnetic resonance cholangiopancreatography revealed dilated intrahepatic biliary ducts and common biliary duct (CBD) - maximum of 10mm -, with an apparent biliary stricture, a 17mm-length lymphadenopathy and millimetric gallstones in the distal CBD.
An endoscopic retrograde cholangiopancreatography (ERCP) was performed, showing an irregular stricture in the distal CBD. A brush cytology was collected, revealing atypia, and a plastic biliary stent was placed.
In the following months, he presented with recurrent acute cholangitis episodes, requiring serial stent replacements.
Considering this undetermined CBD stricture and the recurrent acute cholangitis episodes, an ERCP with per oral cholangioscopy was performed, remarkably showing multiple spiral-surface metallic foreign bodies, compatible with coils (used in pseudoaneurysm embolization), with adherent biliary smudge, in the CBD stricture portion.
This case shows, through a very rich iconography, a rare finding of foreign body on CBD, in a patient with several possible causes for biliary stricture (extrinsic compression due to chronic pancreatitis, biliopancreatic malignancy or ischemia). To our knowledge, there are no similar cases reported so far. This case also underscores the essential role of per oral cholangioscopy in the management of biliary stricture, particularly when conventional interventions are not able to exclude malignancy.

References

Cholangiography image; Per os cholangioscopy images (at least 3)

Clinical Case Summary

A 56-year-old woman was referred to tertial hospital for decompensated liver cirrhosis of unknown origin. She was slightly overweight (BMI 25.3) and denied alcohol consumption or any history of liver disease. Since childhood, she had been diagnosed with congenital ichthyosis, strabismus, and myopia, had a history of bilateral neurosensory hearing loss, arterial hypertension, and cataracts. Since 2016, she had been experiencing progressive muscle weakness, and intermittent speech impairment. The patient complained of eyes dryness, episodic joint and muscle pain, muscle weakness, general malaise, dizziness, dry and scaling skin. Physical examination revealed diffuse skin dryness, scaling and an enlarged abdomen. Radiological examination revealed a cirrhotic liver, splenomegaly and moderate ascites. The MELD score was 18 and the Child-Pugh - 9. Laboratory tests excluded Wilson's disease, autoimmune liver diseases, hemochromatosis, α-1 antitrypsin deficiency. Liver biopsy showed macro and microvesicular steatosis (>50% of hepatocytes with lipid vacuoles), hepatocytes ballooning and inflammation compatible with MAFLD related liver cirrhosis. In peripheral blood smear was detected multiple lipid vacuoles in the leukocytes cytoplasm, known as Jordan‘s anomaly, confirming Chanarin–Dorfman syndrome (CDS) - a rare autosomal recessive neutral lipid storage disease. Genetic testing confirm diagnosis and revealed a potentially pathogenic homozygous c.133+3A>C mutation in the ABHD5 gene. Due to progression of liver failure patient was referred for liver transplantation (LT) and liver was successfully transplanted in 2024.
The case showed that LT is a realistic option if liver function deteriorates in CDS. LT does not affect neurological, dermatological and other extrahepatic symptoms of the syndrome. In early post-transplant period attention should be paid to possible temporary worsening of heart failure due to cardiomyopathy associated with CDS.

Clinical Case Summary

The authors present a case of a 22-year-old male with no previous medical history, apart from COVID-19 in January 2022, which had a mild course. He was referred to a medical appointment in our department after routine blood tests, from March 2022, that revealed abnormal liver biochemistry elevation (ALT 476U/L, AST 139U/L, GGT 135U/L, normal ALP and total bilirubin), which was normal in the previous year. He reported no symptoms and physical examination was unremarkable. There was no chronic medication, recent introduction of drugs, herbal products or epidemiology for zoonoses.
Abdominal ultrasound and CT scan with IV contrast showed discrete hepatomegaly with homogeneous steatosis, without focal lesions, and splenomegaly.
An extensive work-up excluded hepatotropic agents, metabolic causes, autoimmune aetiologies and haematological or lymphoproliferative disorders. The serum protein electrophoresis and immunofixation, immunoglobulins count, tumour markers and celiac disease serology were also normal. During this period, the patient maintained the same liver elevation pattern with stable values, without any alteration in total bilirubin, albumin, coagulation and hemogram, except for the appearance of discrete thrombocytopenia. We remained asymptomatic, with no signs of hepatic decompensation or haemorrhagic diathesis.
The percutaneous liver biopsy documented septal fibrosis and regenerative nodules, interface hepatitis, focal hepatocellular necrosis and, notably, the presence of numerous multinucleated giant hepatocytes, allowing the diagnosis of post-infantile giant cell hepatitis (PIGCH), in cirrhotic phase.
We present a case of PIGCH, with rapid progression to cirrhosis, whose aetiology remains unknow. Viral aetiologies account for 20% of the cases. Given the temporal association between SARS-CoV-2 infection and liver enzymes’ elevation, we cannot exclude this agent as a possible culprit. To our knowledge, this is the first case reporting this possible trigger.

References

Xiao, Y., Gao, Z. H., & Deschenes, M. (2021). Autoimmune post-infantile giant cell hepatitis: a case report and review of the literature. Canadian liver journal, 4(2), 104–109. https://doi.org/10.3138/canlivj-2020-0024;
Jiao, J., & Zhang, X. (2022). Post-infantile Giant Cell Hepatitis: A Literature Review and Meta-analysis. Journal of clinical and translational pathology, 2(3), 100–107. https://doi.org/10.14218/jctp.2022.00016.