Case Reports in Medicine最新文献

Background: Cronkhite-Canada syndrome (CCS) is a rare, nonhereditary gastrointestinal polyposis characterized by diffuse polyps, hyperpigmentation, onychodystrophy, and alopecia. Hypothyroidism has been infrequently reported in association with CCS. Case Presentation: A Caucasian male in his late 70s presented with dysgeusia, asthenia, and significant weight loss, initially diagnosed with Crohn's disease. Physical examination showed onychodystrophy, hyperpigmentation, and leg edema. Laboratory tests revealed severe hypothyroidism, hypoalbuminemia, and elevated serum IgG-4 levels. Upper and lower endoscopies showed diffuse gastric and colonic polyposis with chronic inflammation, eosinophilic infiltration, and hyperplastic changes. Diagnosis of CCS was confirmed. Treatment included corticosteroids and thyroid hormone replacement. Conclusion: This case highlights CCS diagnostic challenges, particularly when misdiagnosed as inflammatory bowel disease. The coexistence of hypothyroidism and elevated serum IgG-4 levels suggests a possible autoimmune component. Early recognition of this rare syndrome is essential for appropriate management.

Background: Basal cell carcinoma (BCC) is the most common cutaneous malignancy, characterized by slow progression and a low propensity for metastasis. Metastatic basal cell carcinoma (mBCC) occurs in fewer than 0.1% of the cases, most frequently involving the lungs, lymph nodes, or bones. Although rare, mBCC is associated with poor prognosis and presents unique diagnostic and therapeutic challenges. Case Presentation: We report a 77-year-old male with a remote history of multiple head-and-neck BCCs, including aggressive histologic subtypes (basosquamous and micronodular), treated predominantly with Mohs surgery; the margin status varied across procedures (some tumor free and some positive). Ten years after the initial lesion, the patient developed progressive dyspnea and was found to have bilateral pulmonary nodules on chest CT. PET/CT demonstrated increased FDG uptake, and a CT-guided biopsy of the right lung nodule confirmed mBCC. There was no evidence of local recurrence at the original excision sites. p16/HPV studies were not performed on the prior cutaneous primaries. Conclusion: This case highlights the potential for delayed pulmonary metastasis in BCC, even years after apparently curative treatment. The absence of local recurrence and the bilateral lung involvement suggest hematogenous spread. Clinicians should remain vigilant for metastatic disease in patients with a history of high-risk BCC, particularly when new pulmonary symptoms arise. Imaging and immunohistochemistry are critical for diagnosis, and early detection may improve therapeutic outcomes in this rare and aggressive manifestation. In this patient, the presence of aggressive histologic subtypes and prior positive margins likely increased metastatic risk.

Background: Fructose-1,6-bisphosphatase (FBPase) deficiency is a rare autosomal recessive disorder of gluconeogenesis caused by biallelic pathogenic variants in the FBP1 gene. It presents with episodic hypoglycemia, lactic acidosis, and ketone body abnormalities, particularly during catabolic stress, but often mimics more common metabolic disorders, leading to diagnostic delays. Case Presentation: We describe the first genetically confirmed Albanian case of FBPase deficiency in a 3-year-old girl, born to nonsanguineous parents. The patient presented with recurrent episodes of vomiting, hypoglycemia, and metabolic decompensation since infancy. At her most severe presentation, she was admitted in a subcomatose state with profound hypoglycemia (35 mg/dL) and lactic acidosis (pH 6.9) without ketonuria. Whole exome sequencing identified a homozygous pathogenic FBP1 variant NM_000507.3(FBP1): c.472C > T; p. (Arg158Trp), a recurrent missense mutation associated with significant phenotypic variability. Parental testing confirmed autosomal recessive inheritance. Management and Outcome: Emergency management included intravenous dextrose and bicarbonate for metabolic acidosis, followed by nutritional interventions. The patient was advised to avoid fasting for more than 8 h and to limit fructose intake. No further metabolic crises were observed after these interventions. Conclusion: This case highlights the clinical and genetic complexity of FBPase deficiency and underlines the importance of genomic diagnostics in children with unexplained hypoglycemia and metabolic acidosis. Early diagnosis allows effective dietary management and prevents recurrent life-threatening episodes. As the first reported case in Albania, it contributes to the growing recognition of FBPase deficiency as an underdiagnosed but treatable metabolic disorder.

Survivors of renal cell carcinoma (RCC), especially following nephrectomy, require long follow-up for recurrence or systemic complications. While those with a history of RCC develop pulmonary nodules often with concern for metastasis, we must consider infectious diseases, especially in patients with environmental exposures and immune alterations related to metabolic changes secondary to nephrectomy. We report a 49-year-old male with a history of RCC status postnephrectomy, history of long-term smoking, and history of significant coal dust exposure, who developed progressive pulmonary nodules. Although initially suspected to be metastatic RCC (mRCC), serial imaging demonstrated nodule enlargement without metabolic activity on PET scan, requiring further evaluation. Given the persistent respiratory symptoms, he underwent bronchoscopy with microbiologic analysis which identified Aspergillus fumigates and was ultimately diagnosed with chronic pulmonary aspergillosis. Our patient was successfully treated with voriconazole and over time demonstrated significant clinical improvement. In this case, we have made the observation of the diagnostic dilemma presented by the pulmonary nodules in RCC survivors and the importance of a broad differential to avoid misdiagnosis. Immune changes following nephrectomy, possible accompanying chronic kidney disease (CKD), or prolonged oncologic surveillance could place patients at risk for opportunistic infections. In order to ensure timely detection and treatment of infections that may mimic tumor progression, clinicians treating RCC survivors should integrate microbiologic diagnostics into routine pulmonary evaluations.

Introduction: Cytomegalovirus (CMV) retinitis typically occurs in patients with acquired immunodeficiency syndrome. It may also manifest in patients with hematological diseases, mostly after allogeneic hematopoietic cell transplantation. However, its incidence in multiple myeloma remains exceedingly rare, with only 15 reported cases in the literature. Case Report: A 71-year-old man diagnosed with multiple myeloma achieved complete response following treatment with daratumumab, lenalidomide, and dexamethasone. After 2 years of therapy, he developed CMV retinitis. Systemic antiviral treatment led to improved visual acuity, and antimyeloma treatment was successfully resumed with reduced intensity of chemotherapy. Conclusion: CMV reactivation is increasingly being reported with the development of new treatment strategies for multiple myeloma and is considered a significant drug-related clinical complication. We reviewed previous reports and discussed the incidence and optimal management of CMV reactivation in this patient population.

Duplex kidneys, though relatively uncommon (occurring in 1%-4% of the cases), can pose significant clinical challenges when associated with urinary tract symptoms. Complications requiring intervention include stone formation, urinary obstruction, and reflux disease. We present the case of a 22-year-old male with complete duplex right kidney with upper moiety hydronephrosis due to a distal ureteral stone, diagnosed by ultrasonography and confirmed with intraoperative retrograde pyelography (RPG). Definitive management was achieved via ureteroscopy (URS) lithotripsy.

Oral and maxillofacial space infection (OMSI) progresses rapidly, and when combined with diabetic ketoacidosis (DKA), it can become a serious and life-threatening condition. Cases of OMSI with concurrent DKA are relatively rare. This case report describes a young man who developed OMSI caused by methicillin-resistant Staphylococcus aureus in the setting of DKA. A 21-year-old man presented with swelling and pain in the right lower lip that had persisted for four days; the symptoms were both atypical and severe. Based on the patient's clinical course, hyperglycemia may play an important role in the onset and progression of OMSI in young individuals. It is essential to identify the underlying cause of OMSI and to closely monitor clinical signs for timely intervention.

Exogenous lipoid pneumonia (ELP) is a rare disease with both acute and chronic forms. This paper primarily summarizes the diagnosis and treatment process of bronchoalveolar lavage combined with glucocorticoids treatment of acute ELP caused by aspiration of liquid hydrocarbons (e.g., kerosene and diesel fuel) at our hospital. Furthermore, the present study analyzes the advantages of bronchoalveolar lavage combined with glucocorticoids treatment of acute ELP.

Ectopic spleen (ES) is a rare complication of autologous transplant following spleen injury. Autopsy studies suggest that the true incidence rate could be as high as 67%, though only 5%-10% of patients require clinical intervention. This case report describes a highly cautionary case of ES, with an extremely long latent period. The patient presented with dull lower abdominal pain 24 years after undergoing a splenectomy. An ultrasound examination revealed a round-shaped, solid mass measuring 1.6 × 2.5 cm adjacent to the right ovary. Following laparoscopic surgery, a 2.5 × 1.5 cm mass on the surface of the sigmoid colon and a 1.0 cm dark red nodule on the pelvic floor were completely removed. Pathological and immunohistochemical examinations confirmed that both lesions were splenic tissue. This case highlights the fact that the latent period of ES can last for decades. For patients with a history of splenectomy, any new pelvic or abdominal masses should be included in the differential diagnosis of ES. We urge the implementation of standardized long-term follow-up mechanisms combined with multimodal imaging techniques for a comprehensive assessment in order to effectively avoid misdiagnosis and overtreatment.

COVID-19 pandemic led to a fast vaccine design due to the threat of rapid spreading worldwide. Safety profile of the approved vaccines has been achieved mostly through clinical trials. However, some unsolicited adverse events in a longer duration of time have been recorded in addition to the late disorders known as long-COVID, stemming from classical infection. Therefore, case studies and long-term follow-up are required to enrich the current data on SARS-COV-2 infection/vaccination. In this study, two cases of autoimmune diseases induced by COVID-19 and/or vaccination were followed in three years. The profile of each is presented, and the probable cause has been discussed. The laboratory findings approved systematic lupus erythematosus and Hashimoto's thyroiditis in the studied cases. The key finding of this study is that the importance of probable autoimmune diseases flares up in individuals with a history of autoimmunity in their families which could manifest as a long-COVID symptom or late vaccination side effect.