Oxford Medical Case Reports最新文献

Systemic mastocytosis co-occurring with chronic myelomonocytic leukemia (SM-AHN) presents therapeutic challenges, especially in cases of cytopenia. We present a case of a 76-year-old woman with advanced SM-AHN and thrombocytopenia, who responded to reduced-dose avapritinib combined with dexamethasone. Initial treatment with midostaurin and azacitidine was discontinued due to hematological toxicity. Avapritinib (100 mg/day) initiated but reduced to 50 mg/day due to thrombocytopenia risk, with dexamethasone (20 mg) added for platelet support. Clinical improvement was observed within two weeks, with lymphadenopathy resolution, spleen and liver size reduction, platelet count normalization, and serum tryptase decrease. Avapritinib combined with dexamethasone offers a promising therapeutic strategy for SM-AHN, particularly in thrombocytopenic cases.

Background: Hydatid cyst (HC) represents a remarkable zoonotic parasitic disease, mostly affecting the liver and lungs. In this report, we present a patient from northern Iran who exhibited HC involvement in the pelvic region, a rare occurrence that is often asymptomatic.

Case presentation: A 41-year-old female presented with hypogastric pain, and imaging survey showed the potential presence of cystadenoma, endometriosis, and various typical ovarian lesions. She underwent laparotomy, during which pelvic HC was identified. Serological testing confirmed this finding. Also, albendazole was prescribed, and she was discharged in relatively good condition.

Conclusion: In regions where this infection is prevalent, HC must be considered in the differential diagnosis of ambiguous cystic tumors. This case highlights the importance of including HC in the differential diagnosis of pelvic cysts, especially in endemic areas. Furthermore, we recommend the using of molecular techniques during surgical interventions as potentially beneficial.

Background: Ewing sarcoma rarely arises in the gastrointestinal (GI) tract, and rectosigmoid presentations are exceptionally uncommon.

Case presentation: 36-year-old man with rectosigmoid mass showing small round blue cells with pseudorosettes, CD99 and FLI1 positive, diagnosed as Ewing sarcoma; managed with surgical resection followed by chemotherapy.

Conclusion: Primary EES of rectosigmoid is extremely rare; diagnosis requires morphology, IHC and molecular testing wherever possible; early biopsy allows neoadjuvant chemo before surgery.

We report a case of a 65-year-old man with diffuse hepatic artery dilation. Laboratory tests and imaging studies indicated signs of chronic liver disease. Specific measurements of dilated vessels are provided, and relevant diagnostic and therapeutic considerations are discussed. The patient was treated with common hepatoprotective agents and the progression of cirrhosis was prevented. Importantly, this case emphasizes the need to distinguish hepatic artery dilation from other vascular anomalies, particularly in the absence of portal hypertension, through high-resolution imaging and clinical correlation.

Laryngeal webs are rare structural anomalies, typically anterior in location when congenital. Posterior laryngeal webs are exceedingly uncommon and are most often acquired, with common associations including prior intubation and gastroesophageal reflux disease (GERD). GERD-induced laryngeal inflammation is a proposed mechanism for web formation due to chronic mucosal irritation and fibrosis. We present the case of a 24-year-old male with recurrent globus pharyngeus and chest discomfort, found to have a posterior laryngeal web in the absence of prior intubation or trauma. The patient was diagnosed with GERD and demonstrated marked symptomatic improvement following anti-reflux therapy. This case highlights the potential link between GERD and posterior laryngeal web formation, emphasizing the role of conservative management in select cases. Further research is warranted to explore the pathophysiological relationship between GERD and laryngeal structural changes, as well as to refine treatment strategies.

Primary cutaneous mucinosis (PCM) is a rare condition characterized by dermal mucin deposition without systemic disease, thyroid dysfunction, or paraproteinemia. The following report details the case of a 25-year-old female patient who exhibited the presence of firm, flesh-colored nodules and plaques that were strictly confined to the right hemibody, distributed linearly along Blaschko's lines. Laboratory tests revealed no significant findings, and histological analysis confirmed the presence of abundant dermal mucin, as indicated by Alcian Blue staining within a normal epidermis. This strictly unilateral Blachkoid distribution is exceptionally rare in mucinoses and raises the hypothesis of genetic mosaicism as a possible pathogenic mechanism. In contrast to generalized scleromyxedema, which carries systemic risk, this case exemplifies a localized, benign variant. This atypical presentation broadens the clinical spectrum of cutaneous mucinoses and underscores the significance of considering this diagnosis in atypical linear dermatoses.

Background: Ataxia-telangiectasia (A-T) is a rare autosomal recessive disorder characterized by progressive cerebellar ataxia, oculocutaneous telangiectasia, and profound immunodeficiency. Although individuals with A-T exhibit a heightened predisposition to malignancies, the incidence of hepatocellular carcinoma is exceptionally rare where diagnosis may be further complicated by the underlying immunodeficiency.

Case presentation: We present a 14-year-old male with a confirmed diagnosis of A-T since the age of two, experiencing progressive neurological decline. Hepatocellular carcinoma was identified during routine systemic surveillance through imaging studies and rising alpha-fetoprotein levels. The patient underwent chemotherapy with PLADO regimen and sorafenib, alongside monthly intravenous immunoglobulin. He had an exceptionally satisfactory course and successful outcome following chemotherapy.

Conclusion: The coexistence of A-T and hepatocellular carcinoma is an exceptionally rare phenomenon, with only a limited number of cases reported globally. Comprehensive, multidisciplinary management is crucial in optimizing survival outcomes and enhancing the quality of life in these medically complex patients.

Primary duodenal cancer is very rare, accounting for approximately 0.3% of all gastrointestinal cancers. Duodenal cancer is most often located in the descending portion of the duodenum, and cancer of the bulb is exceedingly rare. Additionally, most types of duodenal cancers are histologically differentiated adenocarcinomas, and signet ring cell carcinoma of the duodenum is extremely rare. Since most cases of signet ring cell carcinoma of the duodenum are discovered at an advanced stage, endoscopic treatment is seldom indicated. Here, we report a case of a 72-year-old woman in whom endoscopic treatment was performed for early signet ring cell carcinoma of the duodenum localized in the duodenal bulb, with achievement of curative resection. This is a valuable report of endoscopic curative resection of signet ring cell carcinoma of the duodenal bulb.

Anti-LGI1 encephalitis is an autoimmune disorder of the brain, characterized by subacute cognitive impairment, faciobrachial dystonic seizures, and hyponatremia. Although rare, recent reports suggest that LGI1 encephalitis may be triggered following COVID-19 exposure whether through infection or vaccination. It usually presents with insidious progression which, along with old age predominance, may delay the diagnosis. We herein report a 67-year-old patient with positive LGI1 antibody titers, who developed subacute parkinsonism after serial COVID-19 vaccination. To our knowledge, this is the first documented case report highlighting a potential association between COVID-19 vaccination and the development of parkinsonism in the context of LGI1 encephalitis.

Pierre Robin sequence (PRS) is a rare congenital abnormality that may complicate serious circumstances in infants. We report a very rare case of PRS in a five-day-old Afghan girl, accompanied by patent ductus arteriosus (PDA), severe persistent pulmonary hypertension of the newborn (PPHN), perinatal asphyxia, sepsis, and low birth weight. The integration of these comorbidities with PRS makes the case noteworthy. The infant was initially admitted due to perinatal asphyxia and hypothermia and, was discharged in stable condition the next day. On the fifth day of life, she was readmitted with a diagnosis of PDA, severe PPHN, and sepsis, and received treatment for these conditions. Finally, the newborn died from cardiopulmonary arrest resulting from respiratory failure caused by severe airway obstruction and comorbidities. PRS may predispose the neonate to PDA, PPHN, perinatal asphyxia and infection. Consequently, it is important to treat coexisting morbidities that worsen prognosis, especially in resource-limited settings.