Journal of Medical Case Reports最新文献

Background: Low-grade fibromyxoid sarcoma is a rare soft tissue tumor characterized by a benign histological appearance but with a high potential for recurrence and metastasis. First described by Evans in 1987, recurrence and metastasis can occur decades after the initial diagnosis, complicating long-term management.

Case presentation: We report the case of an 83-year-old Jewish female patient diagnosed with low-grade fibromyxoid sarcoma in her right shoulder. The patient underwent wide resection with positive margins, followed by regular follow-ups. At 9 months postoperatively, she developed recurrence involving the right trapezius, thoracic vertebrae, ribs, and pleural cavity, a second local resection was performed. At 2 years post-surgery, the patient remains recurrence free.

Conclusion: Low-grade fibromyxoid sarcoma, though rare, presents a high risk for recurrence and metastasis. Long-term follow-up and vigilant monitoring are crucial, particularly in cases where positive surgical margins are involved. Surgery remains the cornerstone of treatment, but ongoing research into systemic therapies may offer new options for managing metastatic or recurrent low-grade fibromyxoid sarcoma in the future.

Background: Central retinal vein occlusion and cilioretinal artery occlusion are rare but serious ocular conditions that can lead to significant visual impairment. While few cases of central retinal vein occlusion and cilioretinal artery occlusion have been individually reported, concurrent occlusion of both vessels is extremely rare, particularly in younger patients without traditional vascular risk factors. We present the first reported case of simultaneous central retinal vein occlusion and cilioretinal artery occlusion in a young female patient associated with short-term use of progestin-only oral contraceptives (OCPs).

Case presentation: A 28-year-old Pakistani female patient presented with sudden, painless vision loss in the left eye, 3 hours prior to her arrival at the ophthalmology clinic. Visual acuity in the affected eye was limited to counting fingers at a distance of 0.5 feet, with a best-corrected visual acuity of 6/6 in the right eye. Fundoscopic examination revealed optic disc edema, preretinal hemorrhages, venous dilation, and cotton wool spots consistent with central retinal vein occlusion, alongside ischemic changes in the foveal region suggestive of cilioretinal artery occlusion. On the basis of clinical examination, fundus fluorescein angiography, and optical coherence tomography findings, the patient was diagnosed with concurrent central retinal vein occlusion and cilioretinal artery occlusion. Systemic workup to rule out thrombophilia and other vascular risks was negative. She was treated with acetazolamide, aspirin, and ocular massage, alongside a dorzolamide-timolol combination for intraocular pressure control. Six weeks later, panretinal photocoagulation was performed to prevent neovascular complications.

Conclusions: This case highlights the rare presentation of simultaneous central retinal vein occlusion and cilioretinal artery occlusion, likely precipitated by short-term progestin-only OCP use in a young female. The absence of other vascular risk factors emphasizes the potential thrombotic risk associated with hormonal contraception, even in brief courses. Careful consideration should be given to contraceptive choice, and ophthalmologic monitoring is recommended for early detection and intervention in at-risk patients.

Introduction: Osteogenesis imperfecta is a rare inherited connective tissue disorder that results in excessive bone fragility due to defects in collagen production. The majority of osteogenesis imperfecta cases are inherited in an autosomal dominant pattern, and 17 genetic causes have been identified. Diagnosis is usually based on clinical presentation and low bone mineral density scores, while treatment involves a multidisciplinary approach using medical therapies such as bisphosphonates, vitamin C, and pamidronate. Recent research has also explored new therapies, including teriparatide, denosumab, and allele-specific silencing (Edelu et al. in Ann Med Health Sci Res 4(Suppl 1):S1-5, 2014; Bastos et al. in Einstein (São Paulo) 8:480-2, 2010; Van Dijk and Sillence in Am J Med Genet A 164A(6):1470-81, 2014; Subramanian and Viswanathan in Osteogenesis Imperfecta. In: StatPearls. Treasure Island (FL): StatPearls Publishing. http://www.ncbi.nlm.nih.gov/books/NBK536957/ . Accessed 2 Mar 2023, 2022).

Case presentation: A 3-week-old female neonate of African ethnicity was delivered at term by emergency C-section due to two previous scars. The baby had an APGAR score of 7 at 5 minutes and a birth weight of 2.5 kg. The neonate had short and deformed limbs, a soft head, and bluish eyes. The neonate was diagnosed with osteogenesis imperfecta on the basis of clinical examination findings and radiological investigations, which showed multiple bony discontinuities at variable stages of healing in the limbs and ribs. The neonate was managed with supplemental oxygen by nasal prongs and intravenous antibiotics but unfortunately passed away before being reviewed by the orthopedic team.

Conclusion: This case report underscores the importance of early diagnosis of osteogenesis imperfecta and highlights the need for increased clinical awareness, specialized training, and resource allocation to improve outcomes for patients with rare genetic disorders in low-resource settings.

Background: Malignant mesotheliomas are aggressive forms of tumors arising from mesothelial cells. The most common type is malignant pleural mesothelioma, which progresses rapidly and leads to pleural effusion. It typically affects older men and is strongly associated with asbestos exposure. However, a few studies have reported cases of malignant pleural mesothelioma resulting from non-asbestos factors, including radiotherapy for breast cancer, viruses, chronic inflammation, and BRCA1-associated protein-1-associated genetic mutations. Breast cancer is the most common sporadic cancer among women, and a small percentage of cases are related to genetic factors, such as BRCA1/2 and BRCA1-associated protein-1 mutations. While breast cancer can be linked with other primary malignancies through germline mutations, the synchronous occurrence of breast cancer with pleural mesothelioma is extremely rare.

Case presentation: We present the case of a 40-year-old Pashtun woman diagnosed with primary breast cancer. She underwent surgery followed by chemotherapy (paclitaxel). During chemotherapy, she developed right-sided chest pain and dyspnea. A computed tomography scan revealed pleural thickening, and a pleural biopsy confirmed the diagnosis of malignant pleural mesothelioma, with positive results for the diagnostic markers WT1 and D240.

Conclusion: This case represents a rare occurrence of synchronous breast cancer and pleural mesothelioma in a 40-year-old female, and is the first case reported in Khyber Pakhtunkhwa, Pakistan. These findings demonstrate the importance of comprehensive diagnostic testing and the potential role of genetic mutations in concurrent cancers. The challenge of simultaneously treating these cancers highlights the need for further research and the importance of multidisciplinary approaches.

Introduction: Severe acute respiratory syndrome coronavirus infection is responsible for multisystemic disease and has high transmissibility. It culminated in a pandemic, challenging scientific knowledge and care capacity. Neurological symptoms are highly prevalent, and cases of encephalitis have been described, in both peri- and postinfectious periods. However, pathogenesis and prognosis are unclear. Thus, we aim to describe the clinical findings in cases of encephalitis in patients infected with severe acute respiratory syndrome coronavirus, together with a 1-year follow-up of self-perception of recovery and remaining neuropsychiatric symptoms.

Methods: This is a retrospective observational study in which patients with cerebrospinal fluid collection and a recent diagnosis of severe acute respiratory syndrome coronavirus infection were screened for encephalitis through analysis of medical records. We describe their clinical and paraclinical findings using descriptive statistics, together with their long-term outcome, through a self-assessment questionnaire.

Results: Among the 135 patients screened, 11 patients were included. Most of them were admitted for neurological symptoms (73%), and in 63% of cases, those symptoms occurred within the first 7 days of systemic symptoms. Most patients had minor pulmonary involvement assessed on chest computed tomography. On cerebrospinal fluid analysis, the most relevant finding was hyperproteinorrachia. Three patients (27%) had positive changes on magnetic resonance studies. In the outcome analysis, most patients (77%) reported gait difficulties and 66% reported memory and concentration problems.

Conclusion: Encephalitis associated with severe acute respiratory syndrome coronavirus 2 infection is rare but responsible for chronic sequelae in cognitive and motor aspects. The pathophysiology seems to be associated with both the immune-mediated and inflammatory processes, and the low frequency of paraclinical findings demands a high clinical suspicion.

Background: Heterotaxia is characterized by an abnormal positioning of the thoracic and/or abdominal organs, resulting in various physiological and hemodynamic implications. Congenital heart disease involves structural irregularities in the heart or major vessels within the chest, leading to functional challenges.

Case presentation: We present a 26-year-old Arab female patient with a complex medical history involving heterotaxy, dextrocardia, congenital heart disease, and ureteropelvic junction obstruction diagnosed in her first year of life, followed by the identification of endometriosis in her early twenties. This combination of disorders is reportedly unique in existing literature. The patient sought emergency care for severe diffuse abdominal pain unrelated to diet or bowel movements, accompanied by nausea. The pain was localized in specific areas and radiated to the shoulder. Despite treatment attempts with hormonal therapy for abdominal pain relief, her symptoms persisted. Upon examination, no immediate surgical or medical emergencies were noted, leading to symptom management with antispasmodics and recommendations for specialist follow-ups. The patient's cardiac condition, including cyanosis and related complications, was discussed along with her past surgeries and diagnostic findings related to her cardiovascular health.

Conclusion: This case emphasizes the challenges of managing complex medical conditions in a young individual, highlighting the need for multidisciplinary care and long-term follow-up to ensure the best possible quality of life for the patient. An interdisciplinary approach is crucial for the comprehensive care of patients with heterotaxy, as they may present with a wide range of anatomical abnormalities affecting different organ systems. Clinicians need to be well informed about the complexities of heterotaxy syndromes and their diverse manifestations to provide effective and personalized care.

Background: Meniere's disease arises when an abnormal fluid accumulation results in heightened pressure within the inner ear or labyrinth. Its symptoms encompass vertigo, tinnitus, hearing loss, and a sensation of fullness in the ear. Various triggers for Meniere's disease are known, from smoking and alcohol consumption to recent viral illnesses, allergies, and anxiety. Meniere's disease presenting as a postinfectious inflammatory condition secondary to parasitic disease is unknown.

Case presentation: A 37-year-old Hispanic male patient, native to southern Honduras, presented with dizziness and tinnitus. These symptoms progressed to include left-sided sensorineural hearing loss. The patient was clinically diagnosed with Meniere's disease and referred to an otolaryngologist. Laboratory work-up revealed a positive result for the anti-heat shock proteins antibody and abnormal electrocochleography, more prominent on the left than the right. His vestibulonystagmogram displayed both central and peripheral findings, and bithermal caloric irrigations suggested abnormal peripheral function with a 57% weakness in the left ear. Despite dietary and lifestyle modifications, as well as treatment with oral steroids, his symptoms persisted. More detailed history revealed that he had been treated for a tapeworm infection at the age of 14 years in his Honduran village. Subsequent magnetic resonance imaging scans of the brain highlighted postinflammatory calcification in the right parietal lobe and generalized volume loss, more substantial than what would be expected for the patient's age. The patient was also referred to rheumatology and neurology, where he was diagnosed with neurocysticercosis.

Conclusion: To the authors' knowledge, this is the first report suggesting that Meniere's disease could be possibly triggered by or concurrent with neurocysticercosis. This highlights the need for a comprehensive examination to identify any coexisting neurological conditions in patients presenting with Meniere's disease.

Background: Intrathecal baclofen therapy can substantially improve symptoms in patients with severe spasticity owing to traumatic spinal cord injury, multiple sclerosis, cerebral paresis, or tethered cord syndrome. Problems associated with intrathecal catheters include migration, laceration, occlusion, or disconnection. Several case reports have described the management of catheter fragments. To the best of our knowledge, this is the first detailed report of the insertion of a new catheter.

Case presentation: A 64-year-old Japanese man with spinal myoclonus was undergoing intrathecal baclofen therapy; his spasticity was well controlled with intrathecal baclofen therapy but worsened 13 years after pump implantation. Imaging revealed spinal catheter breakage, and the catheter was retained in the spinal canal. We inserted a new catheter through a different intervertebral space without removing the original catheter. Postoperatively, the spasticity remained well controlled with intrathecal baclofen therapy.

Conclusion: This is the first detailed report on the insertion of a new catheter for intrathecal baclofen therapy at a different intervertebral space from the catheter breakage, without removal of the old intrathecal catheter.

Background: Mantle cell lymphoma is a diverse B-cell lymphoma with varying clinical behaviors. Treating relapsed or refractory mantle cell lymphoma is challenging, with Bruton's tyrosine kinase inhibitors proving effective but not curative. Post-Bruton's tyrosine kinase inhibitor failure, the prognosis remains unfavorable. Brexucabtagene autoleucel, a US Food and Drug and European Medicines Agency-approved anti-CD19 chimeric antigen receptor T-cell therapy, marks a significant breakthrough offering hope in this challenging scenario.

Case presentation: This article presents an analysis of the management of short-term chimeric antigen receptor T-cell therapy-associated toxicities, focusing on a specific case of a patient with refractory mantle cell lymphoma. The report underscores the complexities of chimeric antigen receptor T-cell treatment and sheds light on strategies employed to mitigate toxic effects. The case involves a white Caucasian 59-year-old male affected by relapsed mantle cell lymphoma who underwent various treatments, including autologous anti-CD19 chimeric antigen receptor T-cell therapy (brexucabtagene autoleucel). The patient experienced immune effector cell-associated hematotoxicity along with cytokine release syndrome and immune effector cell-associated neurotoxicity syndrome, necessitating intervention. The management involved a combination of tocilizumab, corticosteroids, and anakinra, which effectively alleviated symptoms. Additionally, the article highlights the patient's case of intestinal perforation following CAR-T therapy. Although there is a correlation between gastrointestinal perforation and interleukin 6 receptor inhibitors, the adverse event was attributed to the patient's preexisting diverticulitis and the immunosuppressive drugs administered leading to cytomegalovirus reactivation. The study emphasizes the evolving landscape of chimeric antigen receptor T-cell therapy and the significance of addressing toxicities associated with this innovative treatment approach. It underscores the value of anakinra as a potential corticosteroid-sparing therapy for immune effector cell-associated neurotoxicity syndrome and raises the need for further research to optimize the management of immune effector cell-associated hematotoxicity and associated complications. The potential preventive use of drugs to mitigate toxicities also warrants exploration, albeit with the current dearth of evidence.

Conclusions: In conclusion, this article offers valuable insights into the challenges of managing chimeric antigen receptor T-cell-related toxicities through a detailed case presentation and highlights the significance of adopting multidisciplinary approaches to enhance patient outcomes and safety. Further research is needed to refine strategies and advance the understanding of these complex treatment-associated toxicities.

Background: Headaches are more prevalent in patients with multiple sclerosis compared with the general population. However, headaches are still considered a rare symptom of multiple sclerosis, especially when they appear as an initial symptom. The occurrence of a headache as a symptom of radiologically isolated syndrome (RIS) is uncommon, and it can significantly increase the likelihood of developing multiple sclerosis.

Case presentation: We report the case of a 36-year-old Iranian woman experiencing severe unilateral headaches without other multiple sclerosis symptoms. Despite normal physical and laboratory exams, cerebrospinal fluid analysis showed positive oligoclonal bands. Magnetic resonance imaging (MRI) revealed multiple demyelinating plaques consistent with RIS. She was treated with dimethyl fumarate. Subsequent MRI confirmed multiple sclerosis by showing new gadolinium-enhanced lesions. After 3 months of dimethyl fumarate treatment, her headache intensity decreased, and she remained otherwise symptom free. Written informed consent was obtained from the patient.

Conclusion: Effectively managing headaches in patients with RIS is a challenge for clinicians to improve their quality of life and delay the progression of multiple sclerosis.