Journal of medical cases最新文献

Miller Fisher syndrome (MFS), a variant of Guillain-Barre syndrome (GBS), is characterized by the classic triad of ataxia, areflexia, and ophthalmoplegia. Approximately 20% of MFS patients experience facial weakness, with a subset developing delayed facial palsy (DFP) after other neurological symptoms have peaked or begun to improve. Initially, DFP was considered a natural progression of MFS, leading to recommendations against additional treatment. However, DFP persisted for more than 50 days without additional treatment in some patients, prompting additional steroid therapy, resulting in quicker resolution of DFP. We describe an MFS patient who presented with the classic triad of MFS and subsequently developed DFP. The patient was treated with methylprednisolone pulse therapy (1,000 mg/day for 3 days) followed by oral prednisolone (60 mg/day) with a gradual taper, resulting in rapid and complete resolution of DFP, suggesting an alternative mechanism behind DFP, opening avenues for further research and insights into this matter. MFS-DFP is rarely reported in the literature. In addition to this case, we aim to provide a comprehensive literature review on MFS-DFP, to further expand the existing knowledge on the current concepts of DFP-MFS.

Kaposi sarcoma (KS) is an angioproliferative neoplasm that affects the skin and lymph nodes. Human herpesvirus-8 (HHV-8) triggers KS by infecting the endothelium and inducing angiogenesis through the production of vascular endothelial growth factors and cytokines. KS is characterized by purplish or hyperpigmented plaques involving the skin and mucous membranes, and visceral involvement is very rare. Pulmonary KS (PKS) is an exceedingly rare visceral manifestation of KS and has a poor prognosis. PKS often presents with cough, hemoptysis, pleuritic chest pain, fever, and weight loss. In this case series, we share our experience in diagnosing and treating two patients with PKS. We also provide a concise review of the epidemiology, signs and symptoms, diagnosis, and management of this rare condition.

The phenomenon of double interatrial septum (DIAS) represents a particularly rare subtype of atrial septal malformation, characterized by the presence of dual membranes separating the atria, resulting in a distinctive interatrial space. This unique anatomical structure has been linked to a paradoxical right-to-left shunt, potentially contributing to embolic ischemic strokes. Within this context, we report a rare case of a 34-year-old female who presented with a transient ischemic attack (TIA) and was diagnosed with patent foramen ovale (PFO) and a small adjacent atrial septal defect (ASD), along with the presence of a DIAS. The diagnosis was confirmed wit transoesophageal echocardiography and cardiac magnetic resonance imaging (MRI), and the condition was successfully treated with a transcatheter occluder device.

Epstein-Barr virus-positive diffuse large B-cell lymphoma (EBV⁺ DLBCL) is an uncommon subtype of aggressive B-cell lymphoma, with both nodal and extranodal involvement being exceedingly rare. We present a unique case of a 32-year-old immunocompetent male with a nasopharynx lesion accompanied by fever and bilateral cervical lymphadenopathy. The initial biopsy from the nasopharynx proposed infectious mononucleosis (IM) as a potential diagnostic pitfall. The further discovery of lymph node and intestinal mucosa biopsies confirmed the diagnosis of systemic EBV⁺ DLBCL. After receiving four cycles of rituximab, cyclophosphamide, doxorubicin, vincristine, and prednisone (R-CHOP) treatment, the patient got complete remission. However, hemophagocytic lymphohistiocytosis (HLH) developed following the fifth cycle of CHOP. The patient accepted allogeneic hematopoietic stem cell transplantation (allo-HCT) subsequently. Unfortunately, the survival time was only 14 months. Appeals for a multi-dimension approach to understanding more fully and improving the outcomes of such cases are underscored.

This case report describes an 85-year-old patient who presented with painless, unilateral right testicular swelling of 2 months' duration. This raised the possibility of testicular cancer, especially given his recent treatment for bladder cancer, which included adjuvant intravesical bacillus Calmette-Guerin (BCG) therapy. This poses a diagnostic dilemma regarding tuberculosis (TB) of the testis, BCG complications or a true testicular malignancy. Biochemical markers and a computed tomography (CT) scan showed no evidence of malignancy or disseminated TB. A TB-ELISpot test was negative. An ultrasound of the testis revealed a hypoechoic soft tissue lesion measuring approximately 24 × 19 mm, with internal vascularity and calcifications, causing a bulge in the testicular capsule with probable extracapsular extension. Based on the clinical suspicion of a testicular tumor, a right inguinal orchidectomy was performed. Histopathologic examination revealed isolated tuberculous orchitis with focal epididymal involvement; the spermatic cord was not involved. Polymerase chain reaction (PCR) testing on the histological sample confirmed the presence of Mycobacterium bovis DNA. As a radical right orchidectomy had been performed, no abnormal tissue remained. Additionally, the CT scan showed no evidence of TB dissemination, and the patient was asymptomatic, so he was being closely monitored in the infectious disease clinic. Importantly, a urine culture became positive for TB, and he was started on antituberculosis medication. BCG-induced granulomatous epididymo-orchitis may rarely occur as a late complication following intravesical BCG therapy for superficial bladder cancer. In this case report, we attempted to understand the pathophysiology, diagnostic challenges, patient implications, and potential future research directions.

In the presence of a strong magnetic field such as for magnetic resonance imaging (MRI), ferromagnetic objects may become a source of patient or healthcare provider injury. To prevent such problems, careful screening of patients and healthcare workers is mandatory prior to MRI to identify contraindications to MRI including the presence of external or internal ferromagnetic products. We present a 2-year, 11-month-old child who presented for MRI to evaluate a potential vertebral anomaly. During initial scanning and image acquisition, image distortion was noted which was subsequently determined to be the result of ingested magnetic objects. The basic principles of MRI are discussed, safety pathways to prevent patient and practitioner risk related to ferromagnetic objects presented, and previous reports of patient-related adverse effects from internal ferromagnetic devices reviewed.

Endogenous endophthalmitis is an infectious disease of the intraocular tissue that is a consequence of bloodstream infection. The efficacy of intravitreal fluconazole injection to assist low-dose oral fluconazole in fungal endophthalmitis remains unknown in older adults with advanced liver and renal disease. In this case report, a 78-year-old man with hepatitis C virus-related liver cirrhosis and hepatocellular carcinoma who also had end-stage renal disease with temporary nephrostomy noticed blurred vision and showed a large retinal infiltrate with vitreous opacity in the right eye. In the clinical diagnosis of endogenous fungal endophthalmitis, he had an intravitreal injection of 0.1% fluconazole in 0.2 - 0.3 mL every 2 weeks four times in total, in addition to a minimum dose of oral fluconazole. One month before the ophthalmic presentation, he developed a fever and computed tomography scan showed ureterolithiasis with hydronephrosis on the right side, indicating that the renal pelvic stone fell into the ureter. He underwent nephrostomy tube insertion on the right side in the diagnosis of obstructive urinary tract infection. In the course, a potassium hydroxide (KOH) preparation of the urine sediments which were obtained from the nephrostomy tube showed yeast-like fungi, suggestive of Candida, 1 week before the development of eye symptoms. One week after the ophthalmic presentation, the nephrostomy tube at 14 Fr (French gauge) which had been inserted 1 month previously was replaced with a new tube with a larger size at 16 Fr because urine excretion from the tube was reduced. Immediately after the exchange of the nephrostomy tube, a large volume of urine was excreted from the tube. In a week, he had no systemic symptoms and serum C-reactive protein became low. In the meantime, the retinal infiltrate became inactive and vitreous opacity resolved. Intravitreal fluconazole injection is a treatment option for fungal endophthalmitis in the case that a patient cannot undergo vitrectomy and cannot take a maximum dose of fluconazole because of poor renal function.

Lymphoma is a common malignancy in children. It is the second most common malignancy in children older than 1 year of age. Most extranodal non-Hodgkin lymphoma (NHL) in the head and neck is usually caused by diffuse large B-cell lymphoma (DLBCL), but pediatric DLBCL with cluster of differentiation (CD)5 expression is rarely discussed in the literature. An 8-year-old Saudi female presented with painful swallowing for a year. She underwent tonsillectomy. Histopathology and immunohistochemistry studies show stage II NHL as DLBCL in the left tonsil, non-germinal center B-cell (non-GCB) with aberrant CD5 expression. She completed all cycles of chemotherapy. She experienced febrile neutropenia after the first cycle but did not have any other complications. Current chemotherapy has an excellent prognosis, but the treatment approach depends on the disease stage risk classification. We emphasized that malignancy is not excluded by the absence of constitutional symptoms.

Platypnea-orthodeoxia syndrome (POS) is an uncommon yet clinically significant medical phenomenon characterized by dyspnea, a distressing symptom manifesting as breathlessness upon assuming an upright position, which notably improves upon reclining. In stark contrast to orthopnea, where dyspnea worsens in a supine position, POS uniquely presents with decreased blood oxygen saturation upon transitioning from lying down to standing up. This syndrome poses diagnostic challenges due to its subtle symptomatology and requires a high index of clinical suspicion for accurate identification. Herein, we present a case of a 79-year-old female with a complex medical history, notably encompassing deep vein thrombosis (DVT) and subsequent pulmonary embolism (PE) necessitating long-term anticoagulation with warfarin, a history of breast cancer status post lumpectomy and chemotherapy, hypertension, and chronic kidney disease (CKD). The patient was admitted from a living facility with persistent hypoxemia and clinical features suggestive of POS. Despite comprehensive physical examination and routine laboratory investigations, no overt abnormalities were discerned. However, echocardiography unveiled a severe patent foramen ovale (PFO) with right-to-left shunting, corroborating the diagnosis of POS. Subsequently, percutaneous closure of the PFO using the GORE CARDIOFORM septal occluder was performed, with fluoroscopy confirming successful device placement within the atrial septum. Remarkably, the patient demonstrated significant improvement in oxygenation post-procedure, prompting her discharge within 2 days. POS, though rare, holds substantial clinical significance owing to its potential to precipitate considerable morbidity and mortality. The pathophysiological basis of POS lies in the discordance between pulmonary and systemic blood flow, culminating in arterial desaturation upon assuming an upright posture. Timely recognition and intervention are imperative to mitigate symptom burden and avert the progression of associated complications. Early diagnosis facilitates the implementation of targeted therapeutic strategies, thereby alleviating dyspnea and forestalling adverse sequelae stemming from this syndrome. As such, heightened awareness among healthcare practitioners regarding the nuanced presentation of POS is paramount to expedite appropriate management and optimize patient outcomes.

Thrombotic microangiopathy (TMA) is an uncommon but severe complication that may occur in cancer patients under gemcitabine chemotherapy. Gemcitabine-induced thrombotic microangiopathy (G-TMA) can clinically and biologically present as atypical hemolytic uremic syndrome, with activation of the complement pathway asking the question of the use of eculizumab. We describe here the case of a patient suffering from metastatic cholangiocarcinoma treated by gemcitabine for 4 years leading to the remission of the underlying neoplasia. Despite an impressive response to therapy, she developed thrombopenia, regenerative anemia, and acute kidney injury leading to the suspicion then diagnosis based on the renal biopsy of a very late G-TMA. Spontaneous evolution after treatment interruption was favorable without dialysis requirement. However, in this case where gemcitabine is the only chemotherapy remaining for a mortal underlying condition, we discussed the re-initiation of gemcitabine under eculizumab treatment. This atypical case of TMA illustrates the importance of recognizing, even belatedly, this rare but serious complication of chemotherapy. It asks the question of rechallenging discontinued chemotherapy notably under eculizumab cover, in this population with a high risk of cancer progression.