Journal of Medical Cases最新文献

Tuberculous pericarditis, a rare but potentially lethal manifestation of tuberculosis, poses diagnostic and therapeutic challenges in clinical practice. Its nonspecific clinical presentation often mimics other conditions, leading to delayed or missed diagnoses. We report a 25-year-old male with no past medical history, who presented with nonspecific symptoms such as fatigue, weight loss, body aches, and dyspnea. An electrocardiogram showed low voltage QRS complex with electrical alternans, and transthoracic echocardiography (TTE) showed large pericardial effusion with tamponade physiology with right ventricular diastolic collapse, the collapse of the right atrium and the inferior vena cava was dilated with a respiratory variation of less than 50%. The diagnosis of tuberculous pericarditis was made based on clinical presentation, imaging, and laboratory findings, including a positive QuantiFERON-TB gold test and pericardial fluid analysis, despite negative cultures. This case highlights the significance of considering tuberculosis in the differential diagnosis of pericardial effusion and underscores the role of imaging and laboratory investigations in diagnosis. Management of tuberculous pericarditis involves a combination of antituberculous chemotherapy, pericardiocentesis, and corticosteroids. Despite its rarity, tuberculous pericarditis carries a high mortality rate and can present as cardiac tamponade, as illustrated in our case. This underscores the need for high clinical suspicion, especially in high-risk populations, for timely diagnosis and initiation of treatment.

Sebaceous adenoma (SA) is a rare solitary tumor that preferentially affects the forehead and scalp. The objective of this case report was to determine the efficacy and safety of a 10,600-nm carbon dioxide (CO₂) laser device in the treatment of large scalp SA, using a new scanning system which allows to speed up the removal of the lesion. A 65-year-old male with SA on the scalp area underwent one session with the CO₂ laser system. For this procedure, a new scanner system with 7-inch or 4-inch focal handpieces were used. A local anesthesia with lidocaine was performed before laser treatment. Some possible side effects such as dyschromia, burning sensation, bleeding and mild to moderate post-treatment erythema, itching, crusting, and edema, were checked. In order to monitor the effectiveness of the treatment, clinical photos that documented the patient lesion were captured before treatment and at 1 month of follow-up. The clinical and aesthetic results observed after laser procedure were excellent, with a complete remission of patient's scalp SA lesion at 4 weeks' follow-up. Patient satisfaction was very high, and no side effects were observed. This laser system technology allows for precise, effective, and targeted action on the lesions treated while simultaneously protecting the surrounding areas, ensuring the best possible re-epithelialization.

Mucosa-associated lymphoid tissue (MALT) lymphoma is a type of non-Hodgkin lymphoma with characteristic histopathological features and can occur in various extranodal sites, including the gastrointestinal tract. While gastric MALT lymphoma has been extensively researched, primary lymphoma presentation in the colorectal mucosa is rare and lacks any association with Helicobacter pylori infection. Furthermore, there are currently no standardized treatment guidelines for this condition. This report presents a rare case of primary MALT lymphoma that manifested as a broad-based polyp. The diagnosis was confirmed through histopathological and immunohistochemical examination, and the polyp was resected endoscopically with the endoscopic submucosal dissection technique.

Perthes disease typically presents between the ages of 4 and 9 years and is characterized by unilateral or bilateral avascular necrosis of the femoral head. Clinically it presents with pain and decreased range of motion and has a disease course of up to 5 years. We report the clinical and radiological findings of a female in early adolescence who was referred to pediatric physiotherapy and found to have Perthes-like changes of the hip, on a background of tricho-rhino-phalangeal syndrome type 1 (TRPS1). The patient's first symptoms of hip pain were reported at age 10, but there was no radiographic evidence until 2.5 years later when a diagnosis of Perthe's disease was made. This uniquely late presentation may have been due to the altered skeletal maturation seen in TRPS1, whereby skeletal age lags behind chronological age. This case highlights the importance of identifying relevant past medical history on initial assessment, and having rapid access to radiology and orthopedic support to enable timely diagnosis, as prognosis becomes poorer as age increases. Perthes-like changes should be considered as a differential diagnosis in patients presenting with non-traumatic hip pain, regardless of age of onset.

Hypernatremia is defined as having a serum sodium concentration exceeding 145 mmol/L (normal range is 136 - 145 mmol/L). When the serum sodium level surpasses 160 mmol/L and 190 mmol/L, it is classified as severe and extreme hypernatremia, respectively. Extreme hypernatremia is an uncommon occurrence and is associated with significant risks of mortality and morbidity. The most frequently reported causes of extreme hypernatremia are accidental or intentional salt ingestion and diabetes insipidus, while dehydration due to poor water intake as a trigger for extreme hypernatremia is rarely documented. Here, we present a case study of an elderly patient who experienced extreme hypernatremia with a serum sodium level of 191 mmol/L due to dehydration and had altered mental status and ventriculomegaly as a complication.

Histoplasmosis is caused by infection with Histoplasma capsulatum (H. capsulatum). Progressive disseminated histoplasmosis is a more severe form of histoplasmosis and is seldom diagnosed in non-endemic regions of the world owing to the fungus's geographical distribution. In the United States (USA), Histoplasma capsulatum is classically known to be endemic to the Mississippi and Ohio River valleys, and cases in non-endemic areas, such as the southwest USA, are exceedingly rare. Patients with acquired immunodeficiency syndrome (AIDS) are at risk for infection with H. capsulatum, and failure to recognize and treat histoplasmosis may be devastating to patients. In non-endemic regions, the proposed mechanism for disseminated histoplasmosis in AIDS patients is reactivation of a previous infection. Here, we present the case of a young male patient who presented to a southern California hospital with diarrhea, was diagnosed with AIDS, and developed acute hypoxic respiratory failure. Chest imaging revealed diffuse reticulonodular opacities, and histoplasmosis was confirmed by urine and serologic examination. He was subsequently treated with liposomal amphotericin B and safely discharged from the hospital with oral itraconazole therapy. This case contributes to the current limited body of literature citing histoplasmosis infections in California, and clinicians should consider histoplasmosis as a differential diagnosis in non-endemic regions.

Wolfram syndrome (WS) is a rare neurodegenerative and genetic disorder, also known by the synonym DIDMOAD, which stands for diabetes insipidus (DI), childhood-onset diabetes mellitus (DM), optic atrophy (OA), and deafness (D). We present a case of a 25-year-old diabetic patient, using insulin for 15 years, who had increasing polyuria and polydipsia, along with progressive hearing and vision loss. Laboratory tests revealed elevated hemoglobin A1c (HbA1c) and blood sugar levels. Optic nerve, optic chiasm, pons, and brain stem atrophy was seen on magnetic resonance imaging (MRI) of brain. After workup, a diagnosis of DI was made. Once the diagnosis was reached, treatment with subcutaneous insulin and nasal desmopressin improved patient's symptoms. In juvenile diabetic patients presenting with new onset or worsening polyuria and polydipsia, the possibility of WS should be considered. Early diagnosis and initiation of appropriate management leads to improved outcomes and the quality of life.

Intravenous immunoglobulin (IVIG) is used to treat immunodeficiency conditions, neuro-immunological, infection-related, autoimmune, and inflammatory disorders and is typically well tolerated. A hematological adverse reaction such as hemolytic anemia and neutropenia is known to occur with IVIG, which is usually transient and subclinical. However, severe hemolytic anemia is known to occur in some cases. We present a case of a 66-year-old man who developed severe symptomatic hemolytic anemia after receiving IVIG for acute inflammatory demyelinating polyneuropathy (AIDP). The patient had known risk factors such as non-O blood group, high cumulative dose of IVIG, and underlying autoimmune condition, which would have put him at high risk for developing hemolytic anemia after IVIG. Therefore, it is prudent for clinicians to have increased awareness regarding the potential for severe hemolysis and closely monitor these patients with risk factors after treatments to identify this adverse reaction before more severe complications occur.

Myocarditis is a rare complication of therapy with mesalazine, a drug traditionally used in the treatment of inflammatory bowel disease. We report a case of a 32-year-old man with a recent diagnosis of ulcerative colitis, who presented to our hospital with chest pain and elevated troponin, 12 days following initiation of mesalazine. Diagnosis of myocarditis was confirmed with cardiac magnetic resonance imaging (CMR), which showed subepicardial gadolinium enhancement in the basal lateral/inferolateral segment of the heart. The patient's clinical condition improved upon stopping mesalazine and the follow-up CMR demonstrated resolution of the previous findings. Mesalazine can cause myocarditis early after initiation and clinicians should be aware of this rare yet serious cardiotoxic effect, as the discontinuation of the medication is the mainstay of treatment and leads to significant recovery.

Spindle cell carcinoma (SpCC), also referred to as sarcomatoid carcinoma, makes up less than 3% of all head and neck squamous cell carcinomas (SCCs). It is an uncommon and unusual biphasic malignant tumor primarily affecting the upper aero-digestive tract. SpCC consists of spindled or pleomorphic tumor cells. Mostly, these tumors are seen in the fifth or sixth decades of life and are strongly associated with smoking and alcohol. We hereby report an infrequently encountered case of SpCC in a patient with xeroderma pigmentosum (XP), who was young, nonsmoker, and did not consume alcohol. The mass arose from the right orbit and involved the entire right face. The postoperative histopathological report showed SpCC. Surgical excision of the mass was performed. We aimed to add to the prevailing literature by reporting this case.