World Journal of Clinical Cases最新文献

Background: Erdheim-Chester disease (ECD) is an ultra-rare non-Langerhans cell histiocytosis driven by clonal proliferation of lipid-laden histiocytes. With fewer than a thousand documented cases globally, it remains largely unreported in South Asia.

Case summary: A 46-year-old male presented with chronic leg pain, polyuria, and visual disturbances. Radiologic findings revealed symmetric osteosclerosis of long bones and absent pituitary shadow with thickened stalk of pituitary gland. Histopathology showed foamy histiocytes positive for CD68 and CD163 but negative for CD1a and Langerin. Detection of BRAF V600E mutation confirmed the diagnosis. The patient was treated with corticosteroids and interferon-alpha, with significant symptomatic improvement at six months.

Conclusion: This case represents the first case of ECD reported from Pakistan. Awareness of its distinct imaging and histologic patterns can facilitate diagnosis even in resource-limited settings. National rare disease registries and access to molecular diagnostics are essential for improving outcomes.

Background: Scorpion envenomation in pregnancy is a rare but potentially fatal obstetric emergency, with limited evidence on optimal management and antivenom safety. Neurotoxic venom induces autonomic storms, threatening maternal cardiovascular stability and uteroplacental perfusion, which can lead to fetal distress or demise.

Case summary: A 31-year-old gravida 4, para 3 woman at 36 weeks' gestation presented 30 minutes after a confirmed Parabuthus maximus sting to her right foot. She manifested systemic envenomation, including agitation, profuse sweating, tachycardia (142 bpm), and hypertension (168/102 mmHg). Cardiotocography revealed fetal tachycardia (175-180 bpm). A multidisciplinary team initiated intravenous morphine, midazolam, and species-specific antivenom (South African Vaccine Producers Polyvalent Scorpion Antivenom), resulting in the resolution of maternal and fetal symptoms within 12 hours. Critically, antivenom was administered within 40 minutes of the sting, which likely contributed to the rapid reversal of the catecholamine surge. A key factor enabling this rapid and targeted response was the patient's action of capturing the scorpion, allowing for precise species identification. The pregnancy progressed uneventfully to term, culminating in an uncomplicated vaginal delivery of a healthy infant.

Conclusion: This case illustrates that scorpion envenomation in late pregnancy poses a dual threat to both maternal and fetal well-being. Prompt recognition, continuous fetal monitoring, and the very early administration of antivenom-buttressed by multidisciplinary care-can avert catastrophic outcomes. This case provides supporting evidence that antivenom can be safe and effective during the third trimester, even in resource-constrained environments. Public education on safe first aid, including bringing the scorpion for identification, is essential.

Therapy discontinuation in inflammatory bowel disease, particularly involving immunomodulators, biologics, and small molecules, remains a controversial and evolving topic. This letter reflects on developments following the publication by Meštrović et al, emphasizing the complex balance between risks of relapse, anti-drug antibody formation, and potential complications of long-term immunosuppression. Recent evidence underscores high relapse rates following withdrawal - especially of anti-tumor necrosis factor agents - and highlights the lack of robust data for newer biologics. Updated guidelines from European Crohn's and Colitis Organization, British Society of Gastroenterology, and American College of Gastroenterology all support cautious and individualized approaches, with strict criteria and close follow-up, particularly in Crohn's disease. For ulcerative colitis, therapeutic cycling remains insufficiently addressed. We proposed a flowchart to support clinical decision-making and stress the importance of shared decision-making in the era of personalized medicine since, despite new drug classes and evolving strategies, the therapeutic ceiling in inflammatory bowel disease has yet to be fully overcome.

Background: Due to the increasing rate of thyroid nodules diagnosis, and the desire to avoid the unsightly cervical scar, remote thyroidectomies were invented and are increasingly performed. Transoral endoscopic thyroidectomy vestibular approach and trans-areolar approaches (TAA) are the two most commonly used remote approaches. No previous meta-analysis has compared postoperative infections and swallowing difficulties among the two procedures.

Aim: To compared the same among patients undergoing lobectomy for unilateral thyroid carcinoma/benign thyroid nodule.

Methods: We searched PubMed MEDLINE, Google Scholar, and Cochrane Library from the date of the first published article up to August 2025. The term used were transoral thyroidectomy vestibular approach, trans areolar thyroidectomy, scarless thyroidectomy, remote thyroidectomy, infections, postoperative, inflammation, dysphagia, and swallowing difficulties. We identified 130 studies, of them, 30 full texts were screened and only six studies were included in the final meta-analysis.

Results: Postoperative infections were not different between the two approaches, odd ratio = 1.33, 95% confidence interval: 0.50-3.53, the χ ² was 1.92 and the P-value for overall effect of 0.57. Similarly, transient swallowing difficulty was not different between the two forms of surgery, with odd ratio = 0.91, 95% confidence interval: 0.35-2.40; the χ ² was 1.32, and the P-value for overall effect of 0.85.

Conclusion: No significant statistical differences were evident between trans-oral endoscopic thyroidectomy vestibular approach and trans-areolar approach regarding postoperative infection and transient swallowing difficulties. Further longer randomized trials are needed.

Background: Congenital hypothyroidism (CH) is a common condition in both preterm and term infants characterized by either thyroid gland absence or hypofunctionality. The clinical association of refractory lactic acidosis and heart failure has rarely been observed in cases of pediatric patients with CH pathology. Here, we explored the etiological relationship between CH, heart failure, and refractory lactic acidosis to reflect the importance of thyroid function screening in neonates with heart disease.

Case summary: A 33-day-old extremely premature female infant presented with tachypnea, respiratory distress, recurrent infections, and abdominal distension postnatal. On admission to our facility, she had cardiomegaly, hepatomegaly, and lactic acidosis (revealed on blood gas analysis), with lactate progressively rising to 25 mmol/L. Chest radiographs showed pulmonary congestion, while echocardiography revealed cardiac enlargement, left ventricular wall thickening, and pericardial effusion. Initial management aimed at correcting acidosis and treating heart failure proved ineffective. After reassessment, thyroid function tests showed significantly decreased triiodothyronine, free triiodothyronine, thyroxine, and free thyroxine levels, with a significantly increased thyroid-stimulating hormone level, confirming a CH diagnosis. Levothyroxine was administered, resulting in rapid correction of lactic acidosis and gradual improvement of thyroid function and systemic symptoms, culminating in full recovery and discharge. We also reviewed the relevant literature on thyroid and cardiac dysfunctions in order to explore their deeper association.

Conclusion: This case links CH-induced heart failure with refractory lactic acidosis, urging prompt thyroid screening in affected neonates to reduce mortality.

Background: Gallstones and gallbladder wall thickening (GBWT) are frequent findings in patients with cirrhosis, reflecting the critical interplay between hepatobiliary dysfunction and portal hypertension.

Aim: To assess the prevalence of gallstones and asymptomatic GBWT in patients with cirrhosis.

Methods: Hospitalized patients with cirrhosis who had undergone abdominal imaging studies during hospitalization were retrospectively analyzed.

Results: A total of 128 patients were included. The patients had a mean age of 64 ± 12.2 years, were predominantly male (73.4%), and most had decompensated liver cirrhosis (DeCi) (78.1%). Alcohol-associated liver disease (47.7%) and metabolic dysfunction-associated steatohepatitis (16.4%) are the leading causes of cirrhosis. Most patients were classified as Child-Pugh stage B (53.1%), followed by stage C (32%), and stage A (14.8%). A significant percentage of patients had cholelithiasis (39.8%), and DeCi patients were more likely to have gallstones (45%) than compensated patients (21.4%) (P = 0.024). Furthermore, a significant number of patients had asymptomatic GBWT (32.8%), and almost half (42.9%) did not have concurrent cholelithiasis. Patients with DeCi were significantly more likely to have GBWT (39%) than those with compensated disease (10.7%) (P = 0.005). There was no statistical correlation between cirrhosis etiology and cholelithiasis or GBWT.

Conclusion: This study underlines the high prevalence of radiologic gallbladder findings in patients with cirrhosis while simultaneously serving as a reminder to clinicians to refrain from accrediting these findings to a diagnosis of acute cholecystitis in the absence of symptoms.

Rheumatoid arthritis (RA) is a chronic systemic autoimmune disease that extends beyond joint inflammation, affecting pulmonary and metabolic pathways. Interstitial lung disease (ILD) is one of its most serious extra-articular complications, while type 2 diabetes mellitus (T2DM) frequently coexists with RA and may exacerbate inflammatory and fibrotic processes. This editorial discusses the study by Sutton et al, the largest population-based analysis to date exploring the link between T2DM and ILD in patients with RA, and reflects on its mechanistic and clinical implications. In a nationwide cohort of more than 120000 hospitalized RA patients, Sutton et al demonstrated that the coexistence of T2DM nearly doubles the odds of developing ILD (odds ratio = 2.02; 95% confidence interval: 1.84-2.22), with additional increases in pulmonary hypertension, pneumothorax, and length of stay. These findings reinforce the concept of a metabolic-pulmonary-autoimmune axis, in which chronic inflammation promotes insulin resistance and metabolic dysfunction, while hyperglycaemia and advanced glycation end-products amplify oxidative stress and fibrogenesis. This reciprocal interaction may induce a self-perpetuating cycle of "metaflammation", fibrosis, and organ damage. Conclusion: Recognizing diabetes as a silent amplifier of RA-associated ILD redefines the interface between rheumatology, pulmonology, and endocrinology. Early detection and integrated management of metabolic and pulmonary comorbidities should be prioritized, while future studies must determine whether optimizing glycemic control can attenuate pulmonary fibrosis and improve long-term outcomes.

Background: It is challenging to diagnose isolated hyperbilirubinemia with rare and complex etiologies under the constraints of traditional testing conditions. Herein, we present a rare case of coexisting Gilbert syndrome (GS) and erythropoietic protoporphyria (EPP), which has not been previously documented.

Case summary: We present a rare case of coexisting GS and EPP in a 23-year-old Chinese male with a long history of jaundice and recently found splenomegaly. Serial non-specific hemolysis screening tests yielded inconsistent results, and investigations for common hemolytic etiologies were negative. However, Levitt's carbon monoxide breath test, which measures erythrocyte lifespan (the gold-standard marker of hemolysis), demonstrated significant hemolysis, revealing a markedly shortened erythrocyte lifespan of 11 days (normal average 120 days). Genetic testing subsequently confirmed EPP with a homozygous ferrochelatase gene mutation and GS with a heterozygous uridine diphosphate glucuronosyl transferase 1A1 gene mutation.

Conclusion: The rapid, non-invasive Levitt's carbon monoxide breath test resolved the diagnostic challenge posed by a rare and complex cause of hyperbilirubinemia.

Hodgkin lymphoma (HL) is a heterogenous lymphoproliferative disorder of B-cell origin and represents one of the most common malignancies in children and young adults. In addition to well-known underlying factors - such as Epstein-Barr virus infection - the familial aggregation demonstrated in large population studies suggested a genetic predisposition. First-degree relatives of patients with HL have an approximately threefold increased risk of developing the disease compared to the general population. These observations have recently prompted several whole-genome studies in affected families, identifying variants possibly implicated in lymphomagenesis, including alterations in DICER1 (a member of the ribonuclease III family), POT1 (protection of telomeres 1), KDR (kinase insert domain receptor), KLHDC8B (kelch domain-containing protein 8B), PAX5 (paired box protein 5), GATA3 (GATA binding protein 3), IRF7 (interferon regulatory factor 7), EEF2KMT (eukaryotic elongation factor 2 lysine methyltransferase), and POLR1E (RNA polymerase I subunit E). In this article, we review current insights into the etiopathogenesis and risks of familial HL, and present case reports involving two sisters diagnosed with HL nearly 17 years apart. Recognizing the risk for first-degree relatives may potentially increase awareness of early symptoms among family members of HL patients, leading to earlier diagnosis and better outcomes. Conversely, understanding that the hereditary risk, though higher than in the general population, remains relatively low may provide reassurance for affected families.

Background: Edwardsiella tarda (E. tarda) belongs to the family Enterobacteriaceae and is generally seen to cause infections mainly in fish, but is also capable of infecting humans. Extraintestinal infections occur in patients with certain risk factors, including immunocompromised status. We recently diagnosed a case of spontaneous bacterial peritonitis (SBP) due to E. tarda in an immuno-compromised dialysis patient.

Case summary: Patient was a 55-year-old male, with a history of diabetic nephropathy being treated with hemodialysis three times a week. He was referred to our hospital due to an increased volume of ascites, and blood examination revealed increased inflammatory reaction. At our emergency department, he developed fever, disturbance of consciousness, abdominal distension, and abdomen-wide pain. In addition, a dialysis shunt was confirmed in his right forearm, and the shunt site showed no signs of inflammation. No wounds were confirmed on or in his body. A blood examination revealed increased values of white blood cells, C-reactive protein, and creatinine. Plain chest and abdominal computed tomography scanning revealed increased ascites volume. Abdominal paracentesis was performed and a Gram stain revealed Gram-negative bacillus. These findings prompted diagnosis of SBP. The patient was admitted and treated with cefmetazole, causing fever resolution and symptom improvements. Later, E. tarda was identified in ascites culture. The patient improved with decreased inflammatory response and was discharged on the 12^th day of hospitalization. The antibiotic was terminated after 14 days of treatment. SBP in this case may have developed from chronic renal failure and diabetes mellitus.

Conclusion: We report the first known case of SBP due to E. tarda in an immuno-compromised dialysis patient.