Journal of Medical Case Reports最新文献

Background: Pompe disease, a rare autosomal recessive disorder, is caused by mutations in the acid α-glucosidase gene. Pompe disease is a congenital metabolic disorder that affects all organs, particularly the striated muscle and nerve cells. Diagnosis is typically confirmed through enzyme assays that reveal reduced acid α-glucosidase activity. Enzyme replacement therapy utilizing human α-glucosidase is an available treatment option. Timely diagnosis and treatment in the early stages of the disease significantly impact the effectiveness of enzyme replacement therapy in enhancing patient condition. Here, we present a case of a patient with Pompe disease diagnosed 20 years after the onset of clinical symptoms.

Case presentation: A 38-year-old Iranian Baloch woman referred to our rheumatology clinic with progressive muscle weakness presents with a complex medical history. On mechanical ventilation for 12 years, she has endured fatigue and limb weakness since the age of 16, exacerbated following an abortion at 19. Despite undergoing corticosteroid and azathioprine therapies, the suspected diagnosis of inflammatory myopathy did not yield improvement. Hospitalization at 23 due to respiratory failure post-pregnancy led to her continued reliance on a ventilator. A dried blood spot test indicated reduced GAA enzyme activity, confirming a diagnosis of Pompe disease through genetic testing. Treatment with myozyme for 2 years demonstrated limited efficacy, as the patient experienced improved breathing but no significant overall improvement in limb-girdle muscular weakness. This case underscores the challenges and complexities involved in diagnosing and managing rare neuromuscular disorders like Pompe disease.

Conclusion: Early intervention with enzyme replacement therapy plays a crucial role in halting further muscle loss and disease progression in Pompe disease patients. It is important to note that treatment during advanced stages of the disease may not yield substantial benefits. Nevertheless, enzyme instability and denaturation due to temperature and neutral pH levels, along with limited delivery to disease-relevant tissues, can pose challenges in treatment. However, timely diagnosis of Pompe disease is paramount for its effective management and improved outcomes.

Background: Hydatid disease is a zoonotic infection caused by the species Echinococcus that typically affects the liver. Most liver hydatid cysts are asymptomatic at first, but as the cyst grows larger, symptoms, such as compression effects, start to appear. Ultrasonography and computed tomography scans are the widely used diagnostic tools, and surgery is considered the mainstay of treatment.

Case presentation: We present an unusual case of a giant pedunculated hydatid cyst causing inferior vena cava syndrome in a 20-year-old male patient from the Oromo ethnic group from a rural area of the country. Abdominal ultrasound and computed tomography scan confirmed the diagnosis. Our patient underwent radical surgical resection of the cyst and had a good outcome.

Conclusion: Hydatid liver cyst diagnosis needs a high index of suspicion for echinococcal etiology when dealing with a giant liver cyst as it results in grave complications without any manifestations.

Background: Primary aldosteronism is characterized by high plasma aldosterone and low renin. The plasma aldosterone-to-renin ratio is recommended for screening. Severe hydronephrosis leads to renal parenchymal ischemia, resulting in increased renin secretion. Since nonsuppression of renin may cause a negative result in the aldosterone-to-renin ratio test, severe hydronephrosis and primary aldosteronism occurring simultaneously in a patient are challenging to diagnose.

Case presentation: A 54-year-old Chinese man of Han ethnicity was diagnosed with hypertension and severe hypokalemia (minimum 1.57 mmol/L) 13 years prior, and was also diagnosed with severe hydronephrosis due to congenital ureteral stenosis on the left side. His clinical features suggested primary aldosteronism, but the aldosterone-to-renin ratio result of the patient was negative every time he underwent the primary aldosteronism screening test. No further treatment for primary aldosteronism was performed, which led the patient to suffer from severe hypokalemia, such that he was taking 12-15 g/day potassium chloride orally to keep his blood potassium between 3.0 and 3.5 mmol/L (reference value, 3.5-5.5 mmol/L) for 13 years, and the patient needed to be hospitalized in the intensive care unit for rescue several times. At admission, although the aldosterone-to-renin ratio result of the patient was negative, we still did the saline stress test and captopril inhibition test, and the results showed that the plasma aldosterone level was not lower after the test than before the test. Adrenal enhanced computed tomography suggested an adenoma in the left adrenal gland, and the results of adrenal vein sampling suggested that the left side was the dominant side. Therefore, laparoscopic total resection of the left adrenal gland was performed, and 2 weeks later, the patient developed short-term renal function impairment and hyperkalemia, but his renal function and blood potassium returned to normal after treatment that included fluid rehydration. The patient's biochemical test results and clinical symptoms were completely normal after 1 year.

Conclusion: We suggest that for patients with a high suspicion of primary aldosteronism in the clinic, comprehensive analysis must be performed in combination with clinical characteristic assessments, such as severe hydronephrosis, if renin is within the normal range or if the aldosterone-to-renin ratio result is negative at screening and diagnostic tests, and adrenal vein sampling should be performed if necessary. It can help avoid misdiagnoses and contribute to the treatment of patients with severe hydronephrosis and primary aldosteronism.

Background: Meningiomas are common central nervous system tumors, predominantly intracranial, they rarely develop extracranially. Moreover, benign meningiomas seldom metastasize.

Case presentation: This article presents a case report of a 55-year-old Chinese male patient with a primary World Health Organization grade 1 meningioma originating from the petrous apex of the temporal bone, accompanied by pulmonary metastasis. Following two incomplete resections of the primary tumor, the patient underwent radiotherapy and has since maintained a stable condition.

Conclusion: The case report highlights the rare occurrence of pulmonary metastasis in a benign World Health Organization grade 1 meningioma originating from an extracranial site. It also illustrates the important role of radiotherapy in treating patients with meningioma. Additionally, a review of related literature is provided to gain insights for the diagnosis and treatment of the disease.

Background: While statistically rare in comparison to other head and neck tumours, parotid gland swellings are often encountered in clinical practice where one of the primary goals of examination becomes distinction between benign and malignant lesions. Hallmarks of malignancy are characterized by a female preponderance, history of radiation exposure, a positive family history, and clinical features like heterogenous consistency, fixity to skin/underlying tissues and involvement of facial nerve.

Case presentation: Here we present a case of parotid swelling in a 72-year old gentleman from south India that had a curious amalgamation of both benign and malignant features.

Conclusions: While benign, the risk of malignant transformation and rare multicentric occurrence indicates a need to keep basal cell adenoma in mind in case of parotid swellings and their surgical management.

Introduction: Appendicitis is a common cause of acute abdomen. Rarely, it may form adhesions to nearby structures, complicating surgeries, especially when involving vascular structures such as the internal iliac artery, potentially causing severe intraoperative hemorrhage.

Case presentation: A 65-year-old Middle Eastern male presented with abdominal pain and anorexia for 5 days. Examination and imaging confirmed acute appendicitis with complications. Additionally, a large pelvic mass was noted. During surgery, severe bleeding was encountered due to an adhesion between the appendix and the right internal iliac artery, managed by ligating the artery. The patient recovered well and was discharged in stable condition. Histopathology confirmed the diagnosis.

Conclusion: This case highlights a rare vascular complication of appendectomy due to abnormal adhesions between the appendix and the internal iliac artery, associated with a large pelvic mass. This study emphasizes the need for thorough preoperative evaluation and careful surgical planning in patients with unusual anatomical variations or specific underlying conditions such as neurofibromatosis. Early recognition and strategic management of vascular adhesions are essential to optimize patient outcomes in appendectomies complicated by such rare scenarios.

Background: Pericardial cysts, though rare and benign, can present with various clinical symptoms depending on their size and location in the body. The detection of these cysts typically relies on imaging studies for a conclusive diagnosis, with surgical removal being the definitive treatment.

Case presentation: This case report details the clinical journey of a 32-year-old Iranian woman with a family history of breast and lung cancer, who experienced left-sided chest pain. Utilizing a combination of clinical history review, mammography, echocardiography, and computed tomography, a precise diagnosis of a 10 cm × 3.5 cm pericardial cyst was achieved. The patient underwent median sternotomy for complete cyst excision.

Conclusions: While pericardial cysts are often asymptomatic and benign, they can lead to life-threatening complications. Hence, regular follow-up is advised, and in certain instances, minimally invasive interventions or surgery may be necessary.

Introduction: Perivascular epithelioid cell tumors are uncommon mesenchymal tumors. The genital tract is the most common extrarenal location. Preoperative diagnosis is rarely achieved owing to non-specific symptoms and imaging features. Consensus on treatment strategies remains elusive. Case presentation We report the case a 38 year-old north African woman with a primary sterility, who was diagnosed with a uterine Perivascular epithelioid cell tumor of uncertain malignant potential on a resection specimen of an intracavity polypoid mass. Immunohistochemistry confirmed the diagnosis and we opted for conservative surgery to preserve the patient's fertility desires.

Conclusion: Uterine perivascular epithelioid cell tumor is a rare entity that warrants consideration in the differential diagnosis of uterine tumors. Treatment modalities, follow-up protocols, and prognosis remain ambiguous. Given their unpredictable behavior, accurate diagnosis and long-term monitoring are imperative.

Introduction: Functional neurological disorder challenges conventional medical understanding, presenting neurological symptoms without organic explanations. This report delves into the intricate interplay between psychological and physical manifestations, emphasizing the importance of timely diagnosis and intervention and its impact on a patient's mental health and quality of life.

Case presentation: A 40-year-old single Iranian man was admitted for the third time owing to exacerbation of mood symptoms, including depression, irritability, aggression, suicidal ideation, and movement and sensory problems. The patient's symptoms began with psychological stressors and family conflict, leading to muscle weakness and tremors in the left hand. Over a year, muscle weakness escalated, leading to slow movement, motor impairment in the lower limbs, and reliance on a cane for walking. The patient still exhibited symptoms, such as a mask-like face, stooped walking posture, and a relative improvement of symptoms periodically. At first, the patient was suspected of Parkinson's disease and was placed on levodopa and amantadine. However, the medication was discontinued owing to an unsatisfactory response and the lack of strong evidence in favor of neurological problems on frequent examinations and reviews. Despite multiple hospitalizations, the patient's symptoms remained unresolved. Finally, after years of investigations, based on specialists' recommendations, he was admitted to the psychosomatic ward for diagnostic evaluationele, and he was diagnosed with functional neurological disorder (psychogenic parkinsonism). He underwent pharmacotherapy, electroconvulsive therapy, and psychotherapy. He was discharged with partial improvement of symptoms, but showed periods of relapse and remission during the following years.

Conclusion: This case study illuminates functional neurological disorder complexities, emphasizing the need for a holistic diagnostic approach. Timely interventions, including psychological support, can alleviate symptoms, reduce healthcare costs, and improve the overall prognosis. The report contributes to evolving functional neurological disorder understanding in psychiatry and neurology. The report underscores early recognition, advocating for comprehensive interventions involving psychiatric support, cognitive-behavioral therapy, and patient psychoeducation.

Background: Tenosynovial giant cell tumor is a rare soft tissue tumor of the synovium of joint, bursae, or tendon sheath. It is divided into localized or diffuse types on the basis of the growth pattern. Localized tenosynovial giant cell tumors are usually benign and treated successfully by excision. Diffuse tenosynovial giant cell tumors, in contrast to localized type, can destroy bone and cartilage and are associated with frequent local recurrences and distant metastasis. Localized type tenosynovial giant cell tumors rarely metastasize to distant organs. Here, we report a case of localized tenosynovial giant cell tumor presenting with lung metastases and systematically review literature.

Case presentation: A 55-year-old Asian male presented with a dry cough, right-sided chest pain and progressive dyspnea for 1 month. At 18 months before this presentation, he had undergone excision of a painless swelling on his right index finger. The swelling recurred within 3 months of excision, and a biopsy was then suggestive of a giant cell tumor. Given the suspicion of a giant cell tumor, a wide excision of the lesion was performed and the excisional biopsy was consistent with a diagnosis of tenosynovial giant cell tumor, localized type. At admission to our hospital, the patient had tachypnoea and absent breath sounds on the right side. A chest radiograph showed a right-sided pleural effusion with a homogenous opacity in the left mid-zone. A contrast-enhanced computed tomography of the chest and abdomen showed right massive pleural effusion and bilateral multiple lobulated heterogeneously enhancing pleural-based masses with areas of internal calcification. Pleural fluid analysis revealed an exudate with no malignant cells on cytology. A lung biopsy showed osteoclast-like giant cells and mononuclear spindle cells with areas of hemorrhage and necrosis, suggesting tenosynovial giant cell tumor metastasis. A final diagnosis of localized type tenosynovial giant cell tumor of the right index finger with metastases to the lungs and pleura was made. The patient passed away after receiving three cycles of denosumab injection owing to progressive disease.

Conclusion: Lung metastasis is extremely rare in patients with localized tenosynovial giant cell tumor. The survival is usually poor in patients with lung metastasis. A close follow-up of patients with localized type tenosynovial giant cell tumor is necessary for early detection of pleuropulmonary complications.