Volume 89 - 2026 - Fasc.3 - Case reports
Cirrhosis caused by RTEL1-Associated Telomeropathy
Telomere biology disorders (TBDs), or telomeropathies, are rare genetic conditions caused by defective telomere maintenance, leading to accelerated telomere shortening, premature cellular senescence, and multi-organ dysfunction(1,3). The clinical spectrum ranges from dyskeratosis congenita to pulmonary fibrosis, bone marrow failure (pancytopenia, leukemia, myelodysplasia), and cirrhosis(2,4). Overall, up to 40% of TBD patients present various hepatic manifestations such as cirrhosis (7%), nodular regenerative hyperplasia and steatohepatitis (5).
The Great Imitator strikes again: a hepatobiliary puzzle unraveled by a skin biopsy
Hepatic syphilis is a rare and often overlooked cause of cholestatic liver injury. A 65-year-old male presented with new-onset cholestasis, severe pruritus, weight loss, and marked elevation of CA 19-9. MRCP revealed irregular ductal calibers in a PSC-like pattern with biliary dilatation predominantly on the right side with stricture of the central bile ducts with a central filling defect, initially raising concern for occult cholangiocarcinoma. Histology from cholangioscopic bile duct biopsies demonstrated nonspecific inflammation. Concurrent dermatologic evaluation of a persistent rash led to a punch biopsy showing plasma-cell-rich inflammation, prompting serologic testing that confirmed active syphilis. Spirochetes were visualized on bile duct tissue using specific staining. This case highlights the protean manifestations of Treponema pallidum, including its ability to mimic PSC and even malignancy. Clinicians should maintain a low threshold for syphilis testing in unexplained cholestasis, even in the absence of overt risk factors, to avoid misdiagnosis and delayed treatment.
Linitis plastica-like metastasis of invasive lobular carcinoma: a diagnostically challenging case report and literature review
A 64-year-old woman with a history of bilateral recurrent breast cancer (intraductal carcinoma in the right breast and invasive lobular carcinoma in the left breast) had an FDG-PET-CT scan since her tumor markers were high. The FDG-PET-CT scan showed a moderate increase in FDG avidity in the diffuse thickened stomach wall. Endoscopic and endosonographic examinations revealed no malignancy. After two negative biopsies, suspicious imaging led to exploratory laparoscopy, and a trucut biopsy confirmed linitis plastica–like lobular breast cancer metastasis. Our aim with this case report and the review of the literature is to emphasize the importance of optimal deep tissue acquisition in establishing the correct diagnosis in light of radiological suspicion to inform a proper treatment plan in a multidisciplinary tumor board.
PKHD1 biallelic defects caused Severe Hepatic Fibrosis and polycystic kidney: Identification of a novel pathogenic variant in a Chinese family
Background:Autosomal recessive polycystic kidney disease (ARPKD) is a rare hereditary ciliopathy, clinically characterized by fibrocystic changes in the kidneys and liver. The disease is manifested by hepatic fibrosis and significantly enlarged, echogenic kidneys with fusiform dilation of the collecting ducts. ARPKD is predominantly associated with homozygous or compound heterozygous mutations in the PKHD1 gene, which encodes the protein fibrocystin.
Clinical case: In this study, we report a case involving a young Chinese female who presented with recurrent upper gastrointestinal bleeding, abdominal distension, and hepatosplenomegaly. Imaging studies revealed portal hypertension and bilateral renal involvement, while a liver biopsy indicated portal fibrosis with ductal plate malformation. Genetic analysis identified her as a compound heterozygote for a known pathogenic variant, c.2107G>A (p.D703N), and a novel variant, c.4820A>G (p.Y1607C), in the PKHD1 gene.
Conclusion: Family-based studies have shown that individuals carrying the novel variant exhibit a hepatic abnormal phenotype. Bioinformatics analysis suggests that this novel mutation may impact the protein structure by altering hydrogen bond interactions with other amino acids
ZNFX1 Deficiency: An Interferonopathy Mimicking Wilson Disease with Hepatic and Neurologic Manifestations
ZNFX1 deficiency is a recently recognized type I interferonopathy with heterogeneous systemic manifestations. We report a 15-year-old boy presenting with chronic liver disease, hepatic fibrosis, gait disturbance, and persistent proteinuria. Neuroimaging demonstrated bilateral globus pallidus signal changes and diffuse cerebral calcifications, raising suspicion for a metabolic disorder, particularly Wilson disease. However, copper metabolism studies and hepatic copper quantification were normal, and ATP7B sequencing was negative. Liver biopsy showed portal-to-portal bridging fibrosis without steatosis or copper accumulation. Whole-exome sequencing identified a novel homozygous ZNFX1 c.5733del variant, establishing the diagnosis. Over eight years of follow-up, hepatic disease remained stable without progression or hyperinflammatory episodes. This case expands the phenotypic spectrum of ZNFX1 deficiency, emphasizing that interferonopathies may mimic Wilson disease through hepatic and neurologic involvement. Recognition of this overlap is essential for accurate diagnosis, appropriate genetic testing, and long-term surveillance
Delayed Bleeding Due to Vascular Pseudoaneurysm After Endoscopic Full-Thickness Resection of Duodenal Subepithelial Lesion: A Case Report
We report a case of delayed gastrointestinal bleeding due to a vascular pseudoaneurysm 17 days after duodenal endoscopic full -thickness resection (EFTR) for a subepithelial lesion. Although EFTR is widely accepted and generally safe, severe complications can occur. Diagnosis required advanced imaging, and definitive treatment was achieved with angiographic coil embolization. Awareness of such delayed vascular events is essential for prompt recognition and management.