Journal of medical cases最新文献

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.

Hepatoid adenocarcinoma of the stomach (HAS) is a rare type of gastric cancer with unique clinicopathological features. HAS has a poor prognosis because of early liver, lung, and lymph node metastasis. Owing to its rarity and malignant potential, data on its pathophysiology and management are scarce. Herein, we describe a case of alpha-fetoprotein-producing HAS (AFP-HAS) with metastases to the liver, lungs, and spine. The patient presented with a 3-month history of epigastric pain and intractable emesis, initially thought to be gastroparesis given her uncontrolled diabetes mellitus. Contrast-enhanced computerized tomography (CECT) of the abdomen and pelvis revealed thickening of the gastric wall with hepatic metastases. Upper endoscopy revealed a fungating gastric mass, and the histopathology confirmed AFP-HAS. The patient did not tolerate palliative chemotherapy and died 6 months after her gastric cancer diagnosis.

Catastrophic antiphospholipid syndrome (CAPS) is a rare, severe, and life-threatening form of antiphospholipid syndrome (APS). Early recognition and rapid treatment are of great importance to improve patient outcomes and decrease mortality. Herein, we present a case of lupus and APS with obstetric complications, recurrent thrombosis, and renal and hematological manifestations of APS which showed great response to the treatment.

Unilateral pulmonary hypoplasia (UPH) is a rare congenital disorder that presents rarely in adulthood. Most patients succumb to complications at a young age, and those who survive are rare and susceptible to frequent lifelong pulmonary infections. It has a high infant mortality rate. We present the case of a 66-year-old male with rheumatoid arthritis and severe persistent asthma who first presented to our emergency department in 2013 with worsening shortness of breath. Chest imaging with a computed tomography (CT) scan revealed right hemithorax volume loss with hypoplasia, honeycomb lung formation, and right mediastinal shift. He was treated with prednisone, inhalers, and antibiotics for asthmatic bronchitis. He continued to suffer frequent hospital admissions (56 to our hospital alone) over the next decade for pneumonia and asthma exacerbations. The hypoplastic right lung was deemed to be contributing to recurrent infections/inflammation, and he is currently being re-evaluated for a right pneumonectomy, as surgical resection is an option for localized bronchiectasis associated with recurrent respiratory infections.

Insertion of a peritoneal dialysis (PD) catheter in end-stage renal disease (ESRD) patients with cirrhosis and tense ascites remains a challenge for nephrologists. Ascitic fluid leak at the surgical site, a common postoperative occurrence, leads to the disqualification of many patients who could be otherwise great candidates for PD. The ascitic fluid leak has been described to occur during or immediately after surgery even after the entire volume of ascitic fluid has been drained. In this study, we report a case study of three patients with ESRD, liver cirrhosis, and tense ascites on hemodialysis. The patients required super large volume paracentesis (SLVP), draining 9,000 - 15,000 cc of ascitic fluid twice weekly in an interventional radiology setup. Besides ascitic fluid drainage, the patients needed in-center hemodialysis (ICHD) 3 days a week, leading to their engagement in procedures 5 days a week. In addition, intradialytic symptomatic hypotension, hypoalbuminemia, and other adverse effects of hemodialysis lead to their poor lifestyle. To improve their lifestyle, all patients desired to switch to PD from ICHD. Upon the PD catheter insertion and drainage of the entire ascitic fluid, leaks developed at the insertion site within a few hours. To overcome these leaks, PD catheters of all three patients were attached via a transfer set to a bag for continuous drainage of ascitic fluid for about 2 weeks. No leak or complication was noted, leading to complete healing of insertion site. We recommend, for the patients with tense ascites requiring SLVP, approximately 2 weeks of healing period continuously be performed till initiation of PD training,.

Tyrosine kinase inhibitors (TKIs) have changed the prognosis of Philadelphia-positive B-cell acute lymphoblastic leukemia (ALL); however, relapsed and refractory disease after multiple TKIs continues to be a clinical challenge. Brexucabtagene autoleucel (brexu-cel) is a novel FDA-approved therapy for relapsed and refractory ALL. Given the lengthy manufacturing time, bridging therapy is commonly employed prior to brexu-cel. Here we describe a case of a 75-year-old Hispanic male patient with relapsed/refractory Philadelphia-positive B-cell ALL with extramedullary disease involving abdominal lymph nodes and skin. He was initially treated with chemotherapy in combination with imatinib, and later received dasatinib and subsequently blinatumomab and nilotinib. As the patient progressed, he received ponatinib with low-dose salvage chemotherapy and did not show kinase domain mutation. In a final effort, a novel combination of ponatinib with asciminib was used as a bridge therapy before brexu-cel and later as maintenance therapy after brexu-cel. This novel combination was able to control disease prior to brexu-cel for 2 months and maintained remission for at least 10 months. This report shows that the novel combination of ponatinib and asciminib is tolerable and effective as a bridge and maintenance therapy after brexu-cel.

Femoral fractures are indubitably common injuries that can occur either from high-energy trauma in young patients or due to fragility in the geriatric population. Femoral fractures affecting two or more regions of the femur are exceedingly infrequent injuries, ordinarily caused by high-energy trauma and are considered segmental femoral fractures. We present a rare case of a 33-year-old male patient presented to our Emergency Department with multiple femoral fractures at the subtrochanteric, diaphyseal and supracondylar femoral regions, a condition regarded as double segmental femoral fracture. After assiduous consideration of treatment options, intramedullary nailing was employed for osteosynthesis. Fracture reduction was laborious, as an entirely separated femoral fragment was present between the fracture lines. The reaming process required paramount attentiveness as the middle femoral fragment was prone to rotational displacement by the reamer. Finally, the intramedullary nail was successfully placed, and the patient was discharged without complications after 11 days of hospitalization. Currently, the patient is capable of full weight-bearing without crutches. This paper underlines the challenges that double-segmental femoral fractures' treatment can bring on to the orthopedic surgeon.

Thyrotoxicosis has been associated with several cardiac conditions including atrial fibrillation, congestive heart failure due to left ventricular dysfunction, and cardiomyopathy. However, few cases of ventricular fibrillation as a complication of thyrotoxicosis have been reported. Our case described a 45-year-old male with a history of hypertension and Graves' disease, who presented with 1 week of left-sided chest pain associated with shortness of breath on exertion and occasional palpitations. His workup revealed acute diastolic congestive heart failure secondary to thyrotoxicosis, causing pulmonary hypertension, which led to ventricular fibrillation and cardiac arrest. After being treated with methimazole and metoprolol, the patient's symptoms improved. This case underscores the significance of assertive medical interventions alongside both invasive and non-invasive cardiac procedures. Addressing thyrotoxicosis and ventricular arrhythmia in hyperthyroid patients is crucial to prevent potentially life-threatening complications.