Oxford Medical Case Reports最新文献

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.

A 49-year-old woman presented with a chronic, painful umbilical mass refractory to antibiotics and incision and drainage, ultimately diagnosed as well-differentiated squamous cell carcinoma (SCC) with positive margins. Imaging revealed an abnormal left inguinal lymph node, and biopsy confirmed metastatic disease. She underwent wide local excision with abdominal wall reconstruction and completion inguinal lymphadenectomy, which demonstrated extranodal extension in 2 of 10 nodes. Adjuvant radiotherapy was administered to the left groin, but surveillance imaging five months later showed progression to retroperitoneal and periaortic lymphadenopathy. She is currently receiving cemiplimab immunotherapy, highlighting the importance of multimodal management in treating rare primary abdominal wall SCC. As much of the literature and prior reports focus on cutaneous SCC, this case provides a unique insight into the diagnosis, treatment, and future of care in aggressive metastatic non-cutaneous primary SCC.

In this case study, we describe the presentation of a 6-year-old male patient afflicted with iron deficiency anaemia (IDA) who manifested gastrointestinal obstruction attributable to the habitual ingestion of brick dust and soil, a characteristic behaviour associated with pica. The obstructive material, resembling bricks in consistency, necessitated manual extraction from the patient's anus. Subsequently, the patient received oral iron supplementation as part of the therapeutic regimen. While the causative relationship between pica and IDA remains subject to ongoing debate within the scientific community, our findings underscore the importance of implementing routine screening protocols for iron deficiency in the evaluation of lithobezoar cases among paediatric populations.

Introduction: Methotrexate (MTX) is a key drug in rheumatoid arthritis (RA) management but can rarely cause life-threatening hematologic toxicity, including therapy-related myelodysplastic syndrome (t-MDS), even at low doses.

Case presentation: A 58-year-old male with RA on low-dose MTX (7.5 mg/week) presented with pancytopenia. Evaluation showed Hb 5.7 g/dL, TLC 1300/μL, and platelets 63 000/μL. Nutritional deficiencies, infections, and autoimmune flare were excluded. Bone marrow examination revealed dysplasia with 11% blasts and abnormal precursors, suggestive of t-MDS. MTX and leflunomide were discontinued. He received leucovorin, G-CSF (Granulocyte colony stimulating factor), and supportive care. Rapid hematologic recovery was observed.

Conclusion: This case highlights the potential for low-dose MTX to cause t-MDS, which may be reversible if detected early. As serum MTX levels do not correlate with toxicity, regular blood count monitoring is essential. Prompt drug withdrawal and supportive therapy can lead to full recovery and prevent permanent marrow damage.

Situs inversus totalis (SIT) is a rare congenital abnormality characterized by a mirror-image transposition of thoracic and abdominal organs. Although SIT is a recognized congenital anomaly, it is often unfamiliar to physicians because it is typically asymptomatic and discovered incidentally. We report the case of a 7-year-old girl from Central Honduras who presented with decreased visual acuity in the right eye, and was diagnosed with granulomatous panuveitis. Clinical evaluation revealed a right-sided apex beat, systolic murmur, and left-sided hepatic dullness. Electrocardiogram showed right axis deviation, inverted P waves in I and aVL, and positive P waves in aVR. Radiographic and Ultrasonography imaging confirmed dextrocardia, right-sided aortic knuckle, and mirror-image transposition of abdominal organs, consistent with SIT. This rare coexistence of SIT with ocular inflammation highlights the importance of multidisciplinary evaluation in atypical clinical presentations. Although often asymptomatic, SIT requires recognition to avoid diagnostic errors and guide appropriate management.

Introduction: Gliomas, particularly glioblastomas (GBMs), are the most common malignant primary brain tumors, comprising nearly 80% of CNS malignancies. Despite aggressive treatment, recurrence is common due to its infiltrative nature and therapy resistance, with median survival around 14-15 months.

Case presentation: A 48-year-old male with a history of WHO Grade IV glioblastoma presented five years after subtotal resection with recurrent symptoms. He had not received adjuvant radiotherapy and was lost to follow-up. Recent imaging showed a lesion near the original tumor site. He underwent repeat craniotomy with subtotal excision. The patient's neurological status remained stable postoperatively, although headaches persisted.

Discussion: Recurrent GBMs pose significant management challenges due to diagnostic complexity and limited treatment options. Multimodal imaging and individualized strategies, including surgery and potential adjuvant therapies, are critical.

Conclusion: This case underscores the need for vigilant follow-up and a personalized, multidisciplinary approach to improve outcomes in patients with recurrent glioblastoma.