Clinical Medicine Insights. Case Reports最新文献

Background: Cystic echinococcosis (CE), or hydatid disease, is a zoonotic parasitic infection caused by Echinococcus granulosus. Although primarily hepatic, pulmonary involvement accounts for 10% to 30% of cases. Rupture of pulmonary hydatid cysts can lead to life-threatening complications such as pneumothorax and anaphylaxis.

Case presentation: We report the case of a 20-year-old female from Syria who presented with sudden-onset dyspnea, pleuritic chest pain, palpitations, and dry cough. Imaging revealed a massive right-sided pneumothorax with a ruptured hydatid cyst in the right middle lobe, evidenced by the presence of a Water Lily sign. Emergency decompression and chest tube insertion were performed, followed by definitive surgical intervention with cyst excision and capitonnage. The postoperative course was uneventful, and the patient achieved full radiological and clinical recovery.

Discussion: Pulmonary hydatid cysts are often asymptomatic but may become acutely symptomatic upon rupture. Diagnosis relies on imaging, particularly CT, and can be supported by serology. While medical therapy is reserved for select cases, surgery remains the mainstay of treatment, especially in complicated or large cysts. Intraoperative precautions are crucial to avoid recurrence.

Conclusion: This case highlights the importance of early recognition and multidisciplinary management of ruptured pulmonary hydatid cysts. Prompt surgical intervention following stabilization can lead to favorable outcomes even in cases complicated by tension pneumothorax.

Background: Inflammatory myofibroblastic tumor (IMT) is a rare mesenchymal neoplasm of intermediate malignant potential that predominantly affects children and young adults. Although pulmonary involvement is most frequently reported, mesenteric IMT is uncommon in pediatric patients. Its diagnosis remains challenging due to nonspecific clinical manifestations and significant radiologic and histopathologic overlap with other mesenchymal tumors.

Case presentation: We describe the case of a 5-year-old girl who presented with a three-month history of progressive abdominal distension, anorexia, and weight loss. Radiologic evaluation revealed a calcified mesenteric mass initially suggestive of a calcified fibrous tumor. The patient subsequently underwent exploratory laparotomy with complete surgical excision of the lesion. Histopathologic examination, supported by immunohistochemical analysis, established the diagnosis of inflammatory myofibroblastic tumor. The postoperative course was uneventful, and no evidence of recurrence was observed at the six-month follow-up.

Conclusion: Although rare, pediatric mesenteric IMT should be considered in the differential diagnosis of abdominal masses in children. The absence of distinctive clinical and radiologic features frequently limits accurate preoperative diagnosis, highlighting the importance of a multidisciplinary approach. Definitive diagnosis relies on histopathologic evaluation and immunohistochemical studies, including anaplastic lymphoma kinase (ALK) assessment. Complete surgical excision remains the cornerstone of management and is generally associated with favorable outcomes. This case emphasizes the need for heightened clinical suspicion and underscores the critical role of immunohistochemistry in establishing an accurate diagnosis and guiding appropriate management.

Introduction: IgA nephropathy (IgAN) with concurrent thrombotic microangiopathy (TMA) is an unusual combination of pathological findings that is associated with severe hypertension, proteinuria, and lower estimated glomerular filtration rate (eGFR). This series presents 7 patients with kidney biopsies demonstrating IgAN and concomitant TMA and presents a link by way of complement disorder.

Case presentation: Seven patients all presented as IgAN with associated TMA coinciding with hypertension, proteinuria, and low eGFR. Six patients showed tubular atrophy or interstitial fibrosis and 5 of those 6 showed >50% of renal cortex containing tubular atrophy or interstitial fibrosis. Variations of low serum C3, high serum C4, elevated IgA or IgM proteins, and elevated CH50 were found in 6 of the 7 patients.

Conclusions: Chronic changes seen like interstitial fibrosis and tubular atrophy appear to show a subacute or chronic nature of IgAN with TMA. The low serum C3, high C4, elevated CH50, suggests complement activation in endothelial and mesangial from IgG-IgA complexes known to occur in IgAN. This phenotype of IgAN with TMA may represent a more unique IgAN phenotype with a more severe clinical course and be indicative of underlying complement dysregulation.

Q fever, caused by Coxiella burnetii, is a zoonotic infection with highly variable clinical manifestations, often leading to diagnostic delays. Although typically associated with livestock exposure and presenting with nonspecific febrile illness or hepatitis, its clinical spectrum is broad. We report an unusual case of a 53-year-old previously healthy male who presented with high-grade fever, epigastric pain radiating to both upper quadrants, marked jaundice, severe acute kidney injury, and dark urine. Initial imaging revealed bilateral perinephric and periureteral stranding, gallbladder wall edema, and absence of biliary obstruction, raising concern for urinary and hepatobiliary pathology. Serologic testing for viral hepatitis and multiple bacterial pathogens was negative. Persistent cholestatic abnormalities and systemic symptoms prompted an expanded infectious workup, which revealed positive Coxiella burnetii IgG and IgM. Doxycycline therapy resulted in rapid clinical improvement and progressive normalization of renal and hepatic parameters, confirming acute Q fever based on compatible clinical presentation, positive serology, exclusion of alternative diagnoses, and response to doxycycline. This case is notable for the coexistence of cholestatic jaundice, severe renal dysfunction, and urinary symptoms without pulmonary or classical hepatitic features, illustrating a rare phenotype of acute Q fever. Additionally, the absence of identifiable exposure risks underscores ongoing under recognition of this infection outside traditional high-risk settings. The patient's favorable response to timely doxycycline treatment highlights the importance of considering Q fever in the differential diagnosis of febrile jaundice with multiorgan involvement. This report reinforces the value of broad infectious evaluation in atypical presentations and contributes to expanding clinical awareness of Q fever's diverse manifestations.

Background: Pulmonary embolism is considered a life-threatening condition, with a variable spectrum of clinical presentations. Dyspnea, hemoptysis, and chest pain are the classical symptoms; however, atypical presentations may delay the diagnosis. Persistent hiccups as the sole presentation of pulmonary embolism are rarely reported, posing a diagnostic challenge. Identifying this rare presentation is paramount for early diagnosis and improving patient outcomes.

Case presentation: A 76-year-old Egyptian man was admitted with persistent, daily hiccups lasting ~2 months, refractory to conservative and pharmacologic measures. He denied chest pain, dyspnea, or any respiratory or gastrointestinal symptoms. On admission, physical examination was unremarkable, while laboratory testing revealed an elevated D-dimer level. On hospital day 1, lower limb Doppler ultrasound demonstrated acute deep vein thrombosis in the right lower extremity. Subsequently, CT pulmonary angiography confirmed bilateral pulmonary embolism.

Conclusions: This case highlights persistent hiccups as the sole manifestation of pulmonary embolism. Clinicians should maintain a high index of suspicion for pulmonary embolism in elderly patients presenting with persistent, unexplained hiccups particularly after common causes of hiccups have been excluded. Early diagnosis and timely treatment are crucial to reducing morbidity and improving patient outcomes in such atypical presentations.

Pure ground-glass and part-solid lung nodules are becoming increasingly appreciated as harbingers of malignancy. However, occasionally diagnostic biopsies can demonstrate unexpected findings that may lead to a misleading diagnosis and clinical confusion. Here we present the case of a 70-year-old Taiwanese man with a light smoking history (10-20 pack years), emphysema, and childhood-treated tuberculosis who presented with a part-solid nodule that was diagnosed as a very rare case of adenocarcinoma of the lung with desquamative interstitial pneumonia (DIP)-like microscopic morphology. DIP is a non-neoplastic interstitial lung disease which presents as a diffuse and bilateral process and primarily occurs in smokers. When the morphologic pattern of DIP presents as a focal process, usually around bronchioles, it is labeled respiratory bronchiolitis. (RB)- a very common entity and almost universal in patients with significant smoking history. We describe this case to help educate and guide pathologists on the existence of this very rare entity and to consider performing lung cancer immunohistochemical markers whenever faced with this unexpected histological pattern in a pulmonary nodule.

Background: Congential thrombotic thrombocytopenic purpura (cTTP) is a ultrarare genetic disorder caused by reduced or absent ADAMTS13 enzyme activity. In contrast to the acquired form of TTP, which results from inhibitory autoantibodies against ADAMTS13, cTTP arises due to mutations in the ADAMTS13 gene and lacks such inhibitors. cTTP commonly manifests during infancy through recurrent episodes of hemolytic anemia and signs of microvascular damage. Episodes are often precipitated by infections or physical stressors.

Case presentation: A 23-year-old female patient presented to the emergency department with microangiopathic hemolytic anemia (MAHA), a reduced platelet count and acute kidney injury stage 3 (AKI 3). Three days before she had suffered a knee injury, which was treated with fentanyl. The peripheral-blood smear showed many schistocytes. A thrombotic microangiopathy was suspected and therapeutic plasma exchange (TPE) was initiated. ADAMTS13 activity on admission was 4% without a detectable inhibitory antibody and an inherited ADAMTS13 deficiency was suspected. Genetic testing revealed 2 presumably compound heterozygous variants in the ADAMTS13 gene, confirming the diagnosis of cTTP. After 3 TPE platelet count raised significantly with improvement of renal function. Thereafter the patient received prophylactic plasma infusions every 2 to 3 weeks. At 1-year follow-up she had a normal renal function and no recurrence of hemolytic anemia.

Conclusion: The present case of cTTP is notable for its late onset at first presentation, with unusual severe renal impairment. Rapid diagnosis and timely initiation of treatment are critical. Differential diagnoses such as malignant hypertension, sepsis, and autoimmune diseases like systemic lupus erythematosus must be excluded.

Background: Aluminum phosphide (ALP) is a highly toxic pesticide widely used as a grain fumigant, especially in low- and middle-income countries. Ingestion of ALP releases phosphine gas, causing cellular oxidative damage and profound mitochondrial dysfunction. The cardiovascular system is particularly affected, typically resulting in refractory hypotension and dysrhythmias. There is no specific antidote, so management is entirely supportive. We report a case of intentional ALP ingestion leading to new-onset atrial fibrillation with rapid ventricular response and mild left ventricular dysfunction.

Case presentation: A 32-year-old Black African man presented 4 hours after ingesting 4 ALP tablets. He developed hypotension, tachycardia, and metabolic acidosis. Six hours into intensive care unit (ICU) care, he acutely developed atrial fibrillation with rapid ventricular response (heart rate ~140/minute) and persistent hypotension. Laboratory troponin remained normal, but echocardiography showed mild global left ventricular systolic dysfunction.

Management and outcome: The patient received aggressive supportive care, including intravenous fluids, vasopressors, corticosteroids, and repeated magnesium sulfate and electrolyte repletion. Amiodarone infusion was used for rate control (to avoid negative inotropic effects). No invasive therapies were needed. The atrial fibrillation reverted to sinus rhythm within 18 hours. Hemodynamics normalized over 24 to 48 hours, and the patient fully recovered without neurologic sequelae. On follow-up, cardiac function and electrocardiogram (ECG) were normal.

Conclusion: This case highlights that surviving ALP-induced cardiotoxicity is possible with prompt aggressive supportive therapy. Key learning points include recognition of ALP ingestion in shock, vigilance for life-threatening arrhythmias, and tailored management (eg, use of amiodarone and careful fluid and pressor support). The patient's full recovery underscores that even severe ALP cardiotoxicity can be reversible with appropriate care.

Background: Olfactory nerve schwannomas are sporadic, benign neurogenic tumors arising from Schwann cells within the olfactory pathway. Their clinical presentation is typically nonspecific, and diagnosis often requires careful radiologic and histopathologic evaluation.

Case presentation: We describe a 19-year-old male patient with an olfactory schwannoma that was incidentally discovered during evaluation for head trauma. The patient was asymptomatic, with preserved olfactory function.

Management and results: The patient underwent complete surgical excision via bifrontal craniotomy. Immunohistochemical staining demonstrated positivity for S100, CD34, and Bcl-2, and negativity for GFAP and EMA, confirming the diagnosis of schwannoma. The postoperative course was uneventful, with full preservation of olfactory nerve function, and the patient was discharged in stable condition on postoperative day 7.

Conclusion: This case highlights the clinical significance of recognizing olfactory schwannomas, which may be discovered incidentally. Comprehensive imaging and histopathological evaluation are crucial for accurate diagnosis. Early detection and total resection contribute to favorable neurological outcomes in asymptomatic patients.

Introduction: The increasing use of advanced imaging modalities has led to a growing number of Incidental thyroid nodules (ITNs). Although most ITNs are benign, dedicated evaluation with a thyroid ultrasound (US) is strongly recommended to assess malignancy risk with a dedicated.

Case presentation: We report a case of a 66-year-old male with large fluorodeoxyglucose (FDG)-avid right thyroid mass identified incidentally on a positron emission tomography (PET) scan. Initial fine needle aspiration (FNA) suggested benign pathology. However, subsequent thyroid US demonstrated highly suspicious features concerning for lymphoma or sarcoma, prompting a core biopsy with flow cytometry and immunohistochemistry, which confirmed a diagnosis of small lymphocytic B-cell infiltrating the thyroid gland.

Conclusion: This case underscores the diagnostic limitation of FNA in detecting thyroid lymphoma and highlights the critical role of thyroid US in identifying concerning features. When US findings are highly suspicious for lymphoma, additional diagnostic approaches - including core biopsy with flow cytometry and immunohistochemistry - are essential to ensure accurate diagnosis and appropriate management.