Journal of investigative medicine high impact case reports最新文献

Rectal signet ring cell carcinoma represents a rare subtype of colorectal adenocarcinoma known for its aggressive biological nature and poor prognosis. Although the co-occurrence of colorectal carcinoma with other tumors has been reported, the uncommon phenomenon of tumor-to-tumor metastasis, first described in 1930, remains rare. The most frequent donor neoplasms are lung or breast carcinomas, whereas cerebral meningiomas have been reported to be the most frequent recipient neoplasms. Here we report a case of a typical lipomatous tumor harboring metastatic signet ring cell rectal carcinoma. It is about a 42-year-old man diagnosed with rectal signet ring cell carcinoma and treated with concurrent radiotherapy and chemotherapy followed by an anterior resection and manual coloanal anastomosis with a temporary ileostomy. During the surgery, an abdominal wall lipoma was discovered and excised. A histopathological examination revealed infiltration of the fibro adipose tissue by a mucinous adenocarcinoma with a contingent of signet ring cells. The patient died 12 months after adjuvant chemotherapy due to peritoneal progression. To the best of our understanding, this represents the initial documented instance of tumor-to-tumor metastasis from rectal signet cell carcinoma to a conventional nonvascular lipoma. Consequently, even if one of these tumors appears clinically and radiologically benign, it is prudent to entertain the prospect of tumor-to-tumor metastasis. Thus, a comprehensive pathologic study of both tumors is highly recommended.

Thyrotoxic periodic paralysis (TPP) and thyrotoxic cardiomyopathy (TCMP) are potentially lethal complications of thyrotoxicosis that require emergent recognition and management to attenuate significant morbidity and mortality. We present the case of a 23-year-old Asian male with no prior medical history who developed TPP with coincident TCMP, which was successfully managed with antithyroid and heart failure therapies. The clinician should be aware of the diagnosis and treatment of these 2 life-threatening conditions in a hyperthyroid state.

Chronic recurrent multifocal osteomyelitis (CRMO) is a rare, non-infectious inflammatory disease with a prevalence of 1 to 2/10⁶, causing multiple lytic bone lesions. There are no established protocols for treating CRMO; thus, current practice is largely empirical. Data on the use of zoledronic acid (ZA) in juvenile CRMO are scarce. A 12-year-old male child with a history of multiple aseptic osteomylitis, affecting the chest wall, right ankle, and wrist, had no fever. Cultures and a bone biopsy ruled out infection or malignancy. The patient's condition stayed stable while taking naproxen (20 mg/kg/day) and methotrexate (10 mg/week) for 1.5 years until he experienced right elbow pain, swelling, no overlying skin erythema, and a restricted range of motion. The laboratory tests all came back normal, including white blood cell (WBC) count, erythrocyte sedimentation rate, C-reactive protein, and immunoglobin assays. The magnetic resonance imaging showed a focal lesion in the medial humeral condyle with increased signal intensity on T2 and short tau inversion recovery, mild joint effusion, and no cortical break. Thus, intravenous ZA infusion commenced at 0.0125 mg/kg initially, followed by 0.025 mg/kg 3 months later, with a marked improvement in the patient's clinical symptoms and radiological findings. Non-steroidal anti-inflammatory drugs and methotrexate were initially effective in treating our patient's condition, but a recurrence necessitated treatment modification. To the best of our knowledge, this case is the first documented instance of the use of ZA in CRMO in Iraq and Arab nations.

Breast cancer (BC) accounts for 24.2% of all women's malignant tumors, with rising survival rates due to advancements in chemotherapy and targeted treatments. However, second primary cancers, particularly lung cancer (LC), have become more prevalent, often emerging approximately 10 years after BC treatment. This study presents a case series of 9 women diagnosed with second primary LC following BC, treated at a high-complexity hospital in Colombia between 2014 and 2019. All initial BCs were ductal carcinomas, 7 were triple negative, 1 was human epidermal growth factor receptor 2 positive, and 1 was estrogen and progesterone positive. Each patient had undergone radiation therapy, and 7 had received chemotherapy, increasing their LC risk. The second primary LCs, all adenocarcinomas, were confirmed using immunohistochemical stains for thyroid transcription factor-1 (TTF-1), Napsin A, and estrogen receptor (ER) status. The interval between treatments and LC detection ranged from 1 to 17 years, with 4 cases identified after 10 years and 3 within 1 to 3 years, underscoring the need for prolonged surveillance. Seven LCs were ipsilateral to the BC and radiation site, while 2 were contralateral, highlighting the necessity of monitoring both sides for potential LC development. This case series enhances the local epidemiological understanding, showing that prior radiotherapy for BC and histological analysis are key in characterizing second primary LC patients. The study emphasizes the critical role of accurate histological diagnosis in guiding treatment approaches for lung lesions in BC survivors.

Esophageal dysphagia is most commonly caused by motility disorders and intrinsic mechanical obstruction. However, extrinsic obstruction, such as pericardial effusion, is rare causes of dysphagia. We present an 89-year-old male with history of Waldenstrom macroglobulinemia, Charcot-Marie-Tooth syndrome, and basal cell carcinoma presenting with generalized weakness, productive cough, shortness of breath, and dysphagia to both solids and liquids. A chest X-ray obtained showed cardiomegaly with suggested central vascular congestion and pulmonary edema. Further imaging with computed tomography (CT) abdomen and pelvis showed a moderate-to-large pericardial effusion. Patient later developed signs and symptoms of cardiac tamponade, requiring urgent pericardiocentesis with removal of 1 L of sanguineous fluid. Up to today, only 6 cases of dysphagia due to pericardial effusion have been described. This case displays another rare case and highlights the importance of recognizing dysphagia as a critical symptom as well as non-gastrointestinal (GI) causes of dysphagia.

Ventricular septal rupture, a formidable complication of acute myocardial infarction (AMI), is linked to significant morbidity and mortality. The clinical manifestation typically involves pronounced hemodynamic compromise necessitating prompt surgical intervention. This report outlines the case of a 60-year-old male presenting with acute heart failure 3 weeks post a presumed AMI. On evaluation, a substantial ventricular septal defect with left-to-right shunt was observed. The patient, although hemodynamically stable with mild symptoms, underwent surgical closure of the defect and coronary artery bypass graft for multivessel coronary artery disease. This case contributes to the literature on the delayed presentation of post-myocardial infarction (MI) ventricular septal rupture, a scenario deviating from the anticipated severe hemodynamic instability given the timing of the MI and the extent of the septal defect.

The concurrent development of abducens nerve palsy and optic neuritis on the same side is rare. Here we presented an 82-year-old man who developed the combination of abducens nerve palsy and optic neuritis on the left side 2 months after the sixth inoculation of COVID-19 mRNA vaccine. In past history at 45 years old, he experienced subarachnoid hemorrhage and underwent surgery for the clipping of intracranial aneurysm. The patient had no systemic symptoms, such as general fatigue, fever, arthralgia, and skin rashes. Physical and neurological examinations were also unremarkable. Since the aneurysmal metal clip used at that time was not compatible with magnetic resonance imaging, he underwent computed tomographic (CT) scan of the head and showed no space-occupying lesion in the orbit, paranasal sinuses, and brain. As an old lesion, the anterior temporal lobe on the left side had low-density area with metallic artifact on the left side of the skull base, indicative of metal clipping. In 4 weeks of observation from the initial visit, he showed complete recovery of visual acuity and became capable of abducting the left eye in full degrees. We also reviewed 8 patients with the combination of abducens nerve palsy and optic neuritis in the literature to reveal that the combination of signs did occur in mild meningitis with rare infectious diseases and in association with preceding herpes zoster in the first branch of the trigeminal nerve. The course of the present patient suggested that the combination of signs might be vaccine-associated.

Immune-mediated necrotizing myopathy (IMNM) is a rare subtype of idiopathic inflammatory myopathy that is characterized by severe subacute proximal weakness, myofiber necrosis, and significantly elevated serum creatine kinase. Anti-signal recognition particle (SRP) and anti-3-hydroxy-3-methylglutaryl-coenzyme-A reductase autoantibodies have been found in about two-thirds of patients with IMNM. This myopathy is usually idiopathic and there is a scarce literature concerning its association with connective tissue diseases. Herein, we report an unusual case of a young woman who presented with both rheumatoid arthritis and severe anti-SRP IMNM. Thankfully to a therapeutic protocol combining rituximab and cyclophosphamide, an important improvement was achieved, and notably no serious side effect was observed.

Bilothorax, an exudative pleural effusion due to the accumulation of bile. It is also called cholethorax or thoracobilia and was initially reported in 1971. Here, we report a rare case of an elderly male presenting with bilateral bilothorax due to esophageal rupture. A 78-year-old man with multiple medical ailments presented to the emergency room (ER) with a severe episode of vomiting accompanied by a popping sound, respiratory distress, and right sided chest pain. The patient had tachycardia, BP of 101/89 mm Hg, and tachypnea. Computed tomography scan of the chest and abdomen revealed air adjacent to the esophagus, suggesting perforation, atelectasis of right lung, and bilateral pleural effusion (R > L). However, an esophagram did not reveal any perforation. Right-sided chest tube drained dark green bilious fluid. The day after admission, he experienced hemodynamic compromise and hypoxemia requiring intubation, along with fluids and inotropes support. Diagnosis of bilateral bilothorax complicated by hypoxemic respiratory failure with septic shock was made. Cultures were drawn, and empiric antibiotics were started. Nuclear hepatobiliary scan (HIDA) was performed to rule out a hepatobiliary fistula. Results showed reflux activity in the stomach, and distal esophageal leak was identified. Gastrojejunal stenting was performed. However, after prolonged intubation, the family decided on terminal extubation, and he died while receiving hospice care. This case highlights the rarity of bilateral bilothorax, where the HIDA scan played a crucial role in identifying an esophageal leak as the underlying cause, despite normal esophagram results. This condition necessitates prompt diagnosis and aggressive therapeutic interventions.

Chronic pancreatitis is commonly associated with heavy alcohol use and cigarette smoking, though many cases of chronic pancreatitis are idiopathic. Energy drink consumption has been on the rise over the last decade, with an adverse health risk profile including gastrointestinal symptoms such as dyspepsia, reflux, and gastritis. There have been several case reports linking energy drink consumption to presentations of acute pancreatitis in adult patients. To our knowledge, the association between energy drinks and episodes of chronic pancreatitis flares has not been well studied. This article explores a case of chronic pancreatitis pain related to excessive energy drink consumption in an adult male patient. This study aims to shed light on energy drinks as a potential etiology of chronic pancreatitis flares, and emphasizes the importance of counseling patients on the potential risks of excessive energy drink consumption.