Case Reports in Medicine最新文献

Ruptured ovarian ectopic pregnancy (ROEP) is a rare and life-threatening condition that can increase maternal morbidity and mortality. This case report describes a patient with an atypical presentation that illustrates the diagnostic difficulty of ROEP. Due to overlapping clinical features, it was initially misdiagnosed as an ovarian malignancy. We review relevant clinical symptoms, βHCG trends, and imaging findings that should be evaluated together when considering differential diagnoses. Although most ROEPs are ultimately diagnosed intraoperatively and by histopathology, this case report highlights key diagnostic decision points in the setting of ambiguous clinical and radiologic findings.

Introduction: Gastric adenomyoma is a rare benign lesion that may present with nonspecific gastrointestinal symptoms or be incidentally discovered. Due to its rarity and imaging resemblance to malignant tumors, it often leads to diagnostic and therapeutic dilemmas. Methods: A retrospective study was conducted, and a literature review was made to describe the background of the case found. Case Report: We report a case of a 50-year-old female who developed a gastric adenomyoma mimicking a pyloric lesion initially suspected to be malignant. Histopathological examination confirmed the diagnosis of gastric adenomyoma. The patient's postoperative course was uneventful, and she remains asymptomatic on follow-up. Conclusions: Gastric adenomyoma should be considered in the differential diagnosis of pyloric masses. Awareness of its imaging and histopathological characteristics can prevent unnecessary radical surgery.

Pregnancy is a special period characterized by changes in the immune system as well as alteration of the microbiota predisposing to opportunistic infections, including tonsillopharyngitis. Streptococcus anginosus has numerous virulence factors, and it is associated with a variety of diseases. Being a part of the normal oral microbiota, it can be overlooked as a causative agent of infections in the oral cavity. A clinical case of a 29-year-old pregnant female who was allergic to penicillins and presented with recurrent tonsillopharyngitis has been described. Previous microbiological examinations have not shown any etiologic cause of patient's symptoms. Two species were isolated. S. anginosus and S. oralis were identified using various methods, including nucleotide sequencing. S. anginosus was defined as the causative agent. Both were susceptible to all tested antibiotics. S. anginosus was positive for the duplicated sagA gene, encoding streptolysin S, an important factor of virulence. Based on clinical symptoms, paraclinical tests, immune competence, and characteristics of the strain, a multifactorial evaluation is required to determine whether an opportunist is a causative agent. Moreover, treatment of pregnant patients, particularly with antibiotics, is limited, which leads to therapeutic difficulties.

Background: Kaposi Sarcoma (KS) is a rare low-grade vascular neoplasm that is associated with Human herpesvirus 8 (HHV-8). KS commonly affects HIV or immunocompromised patients. However, classical KS can be present even in the absence of these factors. In this case report, we describe a case of KS in an 83-year-old, HIV-negative Saudi male who was misdiagnosed for two years. Case Presentation: The patient presented with right foot pain and swelling with two large masses. The patient was initially diagnosed with stasis dermatitis and chronic venous ulcer due to venous insufficiency and treated with endovenous thermal ablation. However, the patient's symptoms did not resolve, and he experienced several episodes of cellulitis that required multiple hospital admissions over a 2-year period. When the patient presented to our center, a biopsy was taken from the lesion, and it confirmed the diagnosis of KS. Conclusion: KS or other underlying etiologies should be suspected in cases of recurrent unresolved infections, particularly in older patients. A high index of suspicion and a low threshold for biopsy are recommended to prevent missed or delayed diagnoses, which could ultimately lead to the worst prognosis.

Wilms' tumor (nephroblastoma) is among the most common childhood cancers in the Democratic Republic of Congo and other African countries. However, its association with sickle cell disease is rarely reported in the literature. We present a case of nephroblastoma associated with sickle cell disease. The management of such a case requires a multidisciplinary team in a specialized center. The combination of surgery with pre- and postoperative chemotherapy leads to excellent curative rates. Renal histology after nephrectomy provides the diagnosis and defines the tumor type. Multiple mutations leading to cancers in humans may explain the coexistence of these two genetic diseases with affected genes found in the same chromosome. Further research to provide a molecular genetic explanation of such comorbidity is recommended.

Leprosy, caused by Mycobacterium leprae, remains a significant public health concern in certain endemic regions, but it is rarely encountered in nonendemic areas, posing diagnostic challenges. This case report discusses an unusual presentation of lepromatous leprosy in a patient residing in Saudi Arabia with no history of travel to endemic regions. The patient's clinical features were atypical, lacking the classic neurological involvement and sensation loss commonly associated with leprosy. Definitive diagnosis was achieved through histopathological examination revealing diffuse histiocytic infiltrates, a grenz zone, and acid-fast bacilli confirmed by modified Ziehl-Neelsen staining. The patient responded well to multidrug therapy according to WHO guidelines. This case highlights the importance of maintaining high clinical suspicion, utilizing appropriate diagnostic techniques, and understanding the epidemiological complexities of leprosy in low-prevalence settings. Strengthening awareness and surveillance is essential to prevent underdiagnosis and curb transmission in nonendemic regions.

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.