Journal of medical cases最新文献

Myocardial cysts represent a miscellaneous and infrequent spectrum of conditions, with each of them coming from a different etiological background. Congenital myocardial cysts, neoplasia, cysts of infectious origin (bacterial, viral, or parasitic), and cardiac pathologies that may fake cystic content are all encompassed in this group. Although most patients are asymptomatic, some may occasionally present with obstruction, valvular dysfunction, or heart failure. Even more uncommon is the coexistence of a myocardial cyst with other extracardiac locations causing extracardiac symptoms. In this direction, the coexistence of a myocardial and endocranial cyst is extremely rare and can cause symptomatology from the affected organs (e.g., seizures). Cardiac investigation in this context is mainly dependent on non-invasive diagnostic modalities, and laboratory procedures. In this case report, we present a 26-year-old Congolese male admitted with dyspnea and epileptic seizures. Echocardiography revealed left ventricular and both mitral and tricuspid valve dysfunction and the presence of two myocardial cysts, while brain computed tomography showed an additional frontal cystic lesion. A precise diagnostic workup with a combination of non-invasive imaging, laboratory results, and epidemiology data assisted the diagnosis and guided the most suitable therapeutic choice.

VEXAS (vacuoles, E1 enzyme, X-linked, auto-inflammatory, somatic) syndrome is a newly defined illness that bridges hematology, oncology, and rheumatology. Its pathophysiology originates in a mutation in the UBA1 gene that leads to a defect in ubiquitination resulting in a severe systemic inflammatory syndrome. It is associated with significant morbidity and mortality; however, data are scarce due to limited cases described in the literature. Here we describe a case of a male in his 60s who was referred to hematology-oncology due to progressive dyspnea, poor oral intake, and weight loss. He was diagnosed with relapsing polychondritis 2 years prior; however, his symptoms did not improve despite treatment. He was ultimately diagnosed with VEXAS syndrome with a mutation in UBA1 (ubiquitin-like modifier activating enzyme 1) and a concurrent SQSTM1 mutation. In addition, the coexistence of two mutations in the ubiquitination pathway in the same patient has not been reported to date. This patient and the treatment course were compared to pre-existing literature to increase awareness and improve the medical management of VEXAS syndrome.

Pancreatic vasoactive intestinal peptide-producing tumor (VIPoma) is a rare functional neuroendocrine tumor most commonly presenting with watery diarrhea and electrolyte abnormalities that include hypokalemia, hypercalcemia and metabolic acidosis. This type of tumor has usually insidious clinical behavior that is characterized by chronic secretory diarrhea, lasting usually from months to years before diagnosis, not responsive to usual medical or dietary treatment approaches. Given the resemblance of VIPoma with other more common causes of chronic watery diarrhea, the final diagnosis is often delayed and the tumors are usually large and metastatic at the time of detection. Our case of pancreatic VIPoma demonstrates an unusual clinical course for this type of tumor with acute refractory diarrhea and rapid deterioration of patient's clinical and biochemical status that required emergent in-hospital diagnosis and treatment. Our patient is a 45-year-old woman who presented with abrupt, watery diarrhea during the past 24 h before admission accompanied with severe hypokalemia as well as hyponatremia, hyperglycemia and hypercalcemia. Despite aggressive management with fluid administration and electrolyte replenishment, no significant improvement in patient's symptoms and electrolyte imbalance was observed. After exclusion of other causes of acute diarrhea from the medical history and the laboratory tests, the clinical suspicion of a functional neuroendocrine tumor was raised. After the establishment of final diagnosis of pancreatic VIPoma with biochemical tests and magnetic resonance imaging (MRI), somatostatin analogues were prescribed and the patient underwent distal pancreatectomy and splenectomy with no signs of lymph node and splenic metastases. Few days after the surgical resection of the tumor, the patient readmitted to our hospital with tarry stools and severe anemia. The abdominal computed tomography (CT) revealed a retroperitoneal cystic lesion. The gastrointestinal bleeding gradually recessed after endoscopic hemostasis of duodenal ulcer lesions whereas the cystic lesion (postoperative lymphocele) was successfully drained under CT-guidance before discharge. After almost 10 years postoperatively, the patient is still asymptomatic with no signs of relapse or metastasis of the disease in the periodic laboratory and imaging follow-up. In conclusion, pancreatic VIPoma can sometimes manifest symptoms of abrupt onset and rapid progression that require high clinical suspicion, appropriate diagnostic workup and aggressive management.

Immunoglobulin G4-related disease (IgG4-RD), which was initially identified as a type of autoimmune pancreatitis around the year 2000, is now widely acknowledged to be a systemic sickness. Based on both general and organ-specific criteria, alongside laboratory measurements of IgG4-subtype, the diagnosis is made. The diagnosis requires, however, a heightened index of suspicion, especially given the nonspecific clinical presentation. In addition to this, the symptoms may be "disseminated" in time and the multitude of organ-system involvement may seem initially unrelated. Furthermore, IgG4 levels may be falsely normal especially during the first presentation of IgG4-RD. We report a case of a 33-year-old male who was referred by his general practitioner (GP) to the fast access nephrology clinic due to elevated creatinine and fatigue, which was found after the patient had undergone some investigations at the GP office. He had history of atopic dermatitis and a prior admission for acute pancreatitis of unknown cause and recent bilateral anterior uveitis treated with steroid eyedrops. His urinalysis showed one to two granular casts per high-power field (HPF), and his creatinine was 262 µmol/L (previously normal). Three main differential diagnoses were considered given the patient's history: sarcoidosis, tubulointerstitial nephritis with uveitis (TINU) and IgG4-related disorder. Investigations were undertaken in that regard showing elevated serum IgG4 levels (2.7 times upper-limit of normal). Renal biopsy demonstrated tubulointerstitial nephritis (TIN) with 30 IgG4-positive plasma cells per HPF. Given the patient's presentation over time, a diagnosis of IgG4-TIN was considered. The patient was treated with high-dose steroids and has shown signs of improvement of both his renal and ocular problems. The uniqueness of the case is reflected through the fact that IgG4-renal disease is usually diagnosed in patients with an already established manifestation of another organ, whilst in our patient the renal involvement led to establishing IgG4-RD. It is also important to note that, in spite of initially negative serum IgG4 levels, the diagnosis still needs to be considered especially if multisystem involvement is present (as in this case).

Anorexia nervosa is a psychiatric disorder that is often diagnosed in adolescents and young adults. Renal-related complications of anorexia nervosa include abnormal water metabolism, electrolyte abnormalities, and nephrocalcinosis, which may lead to irreversible renal damage. Furthermore, tubulointerstitial nephritis has been reported as a renal pathological feature of anorexia nervosa. Immunosuppressive therapy, such as with glucocorticoids, has been recommended for idiopathic interstitial nephritis treatment; however, the effectiveness of immunosuppressive therapy for interstitial nephritis in patients with anorexia nervosa remains unestablished. Here, we report a case of interstitial nephritis in a patient with anorexia nervosa whose renal function was successfully improved with glucocorticoid therapy. The patient was a 38-year-old woman who was referred for renal dysfunction (estimated glomerular filtration rate: 7.6 mL/min/1.73 m²). She had anorexia nervosa and repeated episodes of vomiting. Hypokalemia (K: 2.1 mEq/L) and metabolic alkalosis (HCO₃^-: 54.2 mEq/L) were observed. Fluid therapy and potassium supplementation did not improve renal function; therefore, a percutaneous renal biopsy was performed. The renal pathology results revealed interstitial fibrosis, inflammatory cell infiltration in the interstitium, and tubulitis, suggesting a diagnosis of tubulointerstitial nephritis. Glucocorticoid therapy improved the patient's renal function to an estimated glomerular filtration rate of 19.91 mL/min/1.73 m², and the renal function remained stable thereafter. This case suggests that glucocorticoid therapy may be considered for the treatment of interstitial nephritis in patients with anorexia.