Clinical Case Reports最新文献

Acute myocardial infarction (AMI) is an important subset of cardiovascular disease, and a medical emergency, where timely reperfusion is needed to reduce short-term and long-term complications from it. AMI following blunt chest trauma is a rare but serious complication of motor vehicle accidents and should be treated promptly. We are presenting a case of 26 years-old male, who presented to ED after a motor vehicle accident, went into cardiac arrest, and was found ST elevated MI (STEMI) on electrocardiography. Subsequently, cardiac catheterization revealed ruptured plaque in the proximal left anterior descending artery, with thrombus extending to mid-LAD, requiring a stent placement.

Gangliocytic paragangliomas are benign neuro-endocrine tumors of the ampulla of Vater. Their preoperative diagnosis is hampered by the low yield of biopsies and non-specific imaging. Their management relies then on resection. But the type of resection is controversial. Radical resection is indicated in case of lymph node involvement.

This case shows the feasibility of targeted muscle reinnervation (TMR) in a patient with a traumatic neuroma of the medial antebrachial cutaneous nerve (MABCN). TMR was performed by connecting the proximal stump of the MABCN to the branch innervating the accessory epitrochleoanconeus muscle. Postoperatively, the patient reported significantly less pain.

The deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive disorder caused by loss of function mutations in the ADA2 gene (previously the CECR1 gene) on chromosome 22q11. The clinical spectrum of the disease is remarkably broad, and its presentations mimic features of polyarteritis nodosa, such as livedoid rash, hematological abnormalities (e.g., cytopenia), early-onset stroke, hypogammaglobulinemia, and systemic inflammation. Early diagnosis and treatment of DADA2 are crucial, as the clinical features could be potentially life-threatening but treatable. In this study, a 17-year-old male patient is reported with DADA2 whose symptoms mimic those of polyarteritis nodosa. A 17-year-old male patient presented with a 14-year history of abdominal pain, hypertension, and cutaneous lesions initially attributed to polyarteritis nodosa (PAN). He was referred to our center due to ongoing abdominal pain. An abdominal and pelvic computed tomography scan with contrast revealed a retroperitoneal hemorrhage compressing the left kidney. Given his history of abdominal pain, hypertension, hemiparesis, transient ischemic attacks (TIA), anemia, cutaneous lesions, and retroperitoneal hemorrhage, DADA2 was suspected, and a genetic test confirmed the diagnosis. Treatment with anti-TNF (Adalimumab) was initiated, resulting in noticeable improvement. In the follow up, fever, abdominal pain and TIA episodes were subsided and now he has a good clinical condition. Considering DADA2 and conducting a broad screening for other manifestations is recommended for patients presenting with PAN-like symptoms. These patients may become symptomatic later in life, and early diagnosis allows for the consideration of disease-specific treatment options.

Colonic leiomyosarcoma is a tumor with a very low incidence and a high metastasis rate, mainly lung metastasis. This report provides insights into the future treatment. Thoracic puncture is necessary for patients with pulmonary nodules.

Acute pancreatitis (AP) is a rare but life-threatening complication in patients with systemic lupus erythematosus (SLE). The case highlights the diagnostic challenges and treatment complexities in managing SLE-associated pancreatitis. A 20-year-old female with a history of SLE presented with acute onset epigastric pain, vomiting, and signs of systemic inflammation. Laboratory findings revealed elevated amylase and lipase levels, confirming AP. Imaging studies showed interstitial edematous pancreatitis and bilateral pleural effusion. The patient was managed with aggressive fluid resuscitation, pain management, and supportive care. A systemic inflammatory response complicated her clinical course, and she required intensive care unit monitoring. This case underscores the importance of early recognition of AP in SLE patients and highlights the need for a multidisciplinary approach to manage this severe complication.

Craniosynostosis (CS) is the premature fusion of skull sutures, with all sutures except the metopic suture typically fusing in adulthood. Premature fusion constrains brain growth, leading to abnormal skull shape and potential neurocognitive or neurological issues, along with syndromic features in some cases. While CS is rare, its occurrence in siblings is exceptionally uncommon and holds significant academic importance. We report a case of CS in siblings: a 13-month-old boy and his five-and-a-half-year-old sister. Neither parent exhibits craniofacial dysmorphism or signs of increased intracranial pressure (ICP). The younger sibling presents with dolichocephaly and normal neurological, cognitive, and motor development, while the elder sibling exhibits proptosis, midface hypoplasia, and normal developmental milestones. Neither sibling displays limb or systemic anomalies. Imaging studies, including multislice plain CT brain with 3D skull reconstruction and MRI, revealed multiple suture closures. The younger sibling has complete sagittal suture closure with partial closure of other sutures, while the elder sibling shows multisutural CS. Ophthalmologic evaluations and developmental assessments excluded increased ICP and systemic issues. Most CS cases follow an autosomal dominant inheritance pattern, making this case particularly significant. CT with 3D skull reconstruction remains the diagnostic gold standard. Management aims to preserve cosmetic appearance and prevent complications from increased ICP. Treatment options range from conservative follow-up to surgical interventions, including endoscopic suturectomy, open craniotomy, and distraction osteogenesis, depending on the presence of neurocognitive issues or elevated ICP. Both siblings currently show normal neurological, cognitive, and motor development without increased ICP, emphasizing the need for ongoing monitoring to identify new developments or recurrence after treatment. Differential diagnoses, such as deformational plagiocephaly, must also be considered in such cases.

Pemphigus foliaceus (PF) is a rare autoimmune blistering disorder requiring consistent immunosuppressive therapy for management. A 66-year-old male with a history of PF presented with worsening blisters and erosions after discontinuing medication. The patient had flaccid bullae and erosions on the face, scalp, chest, and back. Histopathology confirmed PF. Treatment with oral prednisolone, azathioprine, and reinitiation of dexamethasone-cyclophosphamide pulse (DCP) therapy led to disease remission. This case underscores the importance of adherence to immunosuppressive therapy in PF management. It also highlights the role of affordable treatment regimens in ensuring patient compliance and successful outcomes.

This case report presents a diagnostic challenge encountered in a 65-year-old male admitted with fever, dyspnea, chest pain, and hemoptysis, alongside constitutional symptoms including weight loss, night sweats, and fatigue. Despite initial suspicion for pulmonary thromboembolism and empirical antibiotic therapy for pneumonia, subsequent bronchoscopic evaluation revealed acute necrotizing granulomatous bronchitis, strongly indicative of endobronchial tuberculosis (TB). This diagnosis emphasizes the importance of considering TB in patients with chronic respiratory symptoms, particularly in high-risk populations. Management involves initiating multidrug antitubercular therapy, close monitoring, infection control measures, and patient education. Prompt diagnosis and appropriate management are crucial in optimizing outcomes and reducing disease burden in TB.