Archive of clinical cases最新文献

We describe the natural history of a three-month-old patient with Hunter Syndrome with hematopoietic stem cell transplant (HSCT) who developed recurrent diffuse alveolar hemorrhage (DAH) requiring extracorporeal membrane oxygenation (ECMO). The patient underwent HSCT with several complications, including veno-occlusive disease and DAH. He was managed with ECMO. Unfortunately, despite initial success he developed recurrent DAH and ultimately died. This is a novel report of this severe adverse event requiring ECMO following the use of HSCT in this rare patient population. We share the clinical strategies employed to address the complications associated with HSCT and the progression of his disease over his hospitalization.

Antineutrophil cytoplasmic autoantibody associated vasculitides has 3 different types: Granulomatosis with polyangiitis, eosinophilic granulomatosis and polyangiitis and microscopic polyangiitis. These vasculitides manifest differently based on which area of small and medium size vessels in our bodies that it affects. In this case report, we discuss a unique case of microscopic polyangiitis diagnosed in a 75-year-old male who was relatively asymptomatic i.e. indolent, apart from nodules present in the lung with the use of the diagnostic criteria outlined by 2022 American College of Rheumatology and European Alliance of Associations for Rheumatology. In addition, we reviewed briefly about vasculitis, its epidemiology and the workup of microscopic polyangiitis.

Paget-Schroetter syndrome (PSS) is relatively rare condition of thoracic outlet syndrome characterized by thrombosis or blood clot formation in the subclavian vein. Due to the non-specific symptoms and low incidence rate, PSS is frequently missed by medical professionals, and as such it often leads to wrong diagnosis and untreated patients. We present the case of a 30-year-old CrossFit trainer who developed a thrombosis of the subclavian vein. Initially, the patient consulted an internist after experiencing swelling in the right shoulder region and discoloration of the right upper extremity. Angiography revealed occlusion of the subclavian vein and anticoagulant therapy was prescribed. For more than a year, the patient's symptoms remained unchanged, and the subclavian vein occlusion persisted. Venography suspected effort thrombosis of the subclavian vein. The patient underwent surgery for decompression of the subclavian vein. After six months, results from post-operative computed tomography angiography showed that venous flow was fully restored and no pathology of the venous vessel wall could be demonstrated. This report aims to increase awareness of PSS among medical professionals, leading to earlier diagnosis and adequate clinical-surgical management.

Bullosis diabeticorum is a rare skin complication of diabetes mellitus, characterized by sudden onset bullous lesions with no history of trauma. It predominantly affects men and has an acral asymmetric presentation. Here, we report a case of bullous disease in a diabetic patient with morbid obesity, the first described in Haiti. A 40-year-old woman, with a strong history of diabetic for five years, poorly controlled and morbidly obese presented to our emergency for bullosis lesions in her limb. She had a prior presentation about two years ago and, approximately a week before this actual presentation, the same symptomatology occurred suddenly without any trauma. After evaluation and screening, the diagnosis of bullosis diabeticorum was kept. She was initially treated with antibiotics due to signs of superinfection. However, as soon as the symptoms improved, antibiotics were discontinued. An antiseptic lotion and topical antibiotic, neomycin, were used along with daily dressings. About a week after, her blood glucose came to control, signs of infection disappeared as did the bullous lesions and surgical evaluation was performed to ensure proper wound evolution. She was educated by a nutritionist, and our team emphasized the importance of regular follow-up at the hospital. Diabetic bullous disease is very rare and easy to confuse with other diabetic skin complications. A good clinical history is essential to make the diagnosis, and management requires good therapeutic education to avoid the burdensome complications of diabetes.

Prostate cancer is the second most common malignancy in men worldwide, with a good prognosis when is detected and treated in early stages, but, when it presents progression to castration-resistant metastatic prostate cancer, most of the cases will have bone metastasis, decreasing the quality of life and life expectancy. For the evaluation of the disease in the routinary clinical practice, ⁶⁸Ga-PSMA PET/CT, among others is a valuable tool for the evaluation of the disease extension. ⁶⁸Ga-PSMA PET/CT detects the presence of PSMA receptor in the tumoral tissue, but also has physiologic uptake in certain organs, such as liver, spleen, intestine, kidneys, lacrimal and salivary glands. Total or partial absence of uptake in those organs is rare and may be due to a high metastatic tumor burden, a phenomenon originally described in bone scintigraphy as super scan. We describe a case series of seven patients with prostate cancer from the National Institute of Cancerology in Colombia, in which a super scan pattern was found in the evaluation with ⁶⁸Ga-PSMA PET/CT, proposing the suppression of uptake in the intestine, liver, spleen, lacrimal and salivary glands as the main criteria for its definition, and showing that renal uptake persists in most cases, considering that, unlike the super scan in conventional bone scintigraphy, this is not a criterion necessary for its definition in the study with ⁶⁸Ga-PSMA.

Esthesioneuroblastoma is a tumor arising from olfactory neuroepithelium with an incidence of four per million. This case presents a rare nasal cavity neoplasm with hemorrhagic properties that may lead to significant sequelae. We present a 69-year-old male patient who presented with worsening altered mental status over the past 6-7 months. His Glasgow coma scale was a nine, showing a large mass centered at the cribriform plate with extension intracranially, sinonasal cavity, and bilateral orbits on diagnostics. Bifrontal craniotomy was performed one day after admission with resection of the tumor in the cranial fossa and intranasally, and decompression of the brainstem, frontal lobes, and third ventricle. After surgery, the patient was managed in the intensive care unit but continued to deteriorate. He was confirmed to have no meaningful brain activity and eventually deceased seven days after admission. Depending on the tumor stage, esthesioneuroblastoma can have a favorable prognosis with proper therapies. Different surgical techniques for ENB lead to the question of which therapeutic modality is the best because of the tumor's gross hemorrhagic properties. With adjunctive radiation therapy and/or chemotherapy, more research can bring light to proper surgical techniques.

Pancreatic injury post blunt abdominal trauma is exceedingly rare. When complete major pancreatic duct (MPD) disruption occurs, a disconnection between the pancreas and the duodenum can take place, ultimately leading to fistula formation. We describe a case of MPD disruption following blunt abdominal trauma, complicated by a fistula between the pancreas and an open abdomen (pancreatico-atmospheric fistula). Although the fistula was managed using standard methods for treating pancreatic fistulas, wound care was a significant challenge in this case where the fistula exteriorized into an open abdomen.

Dextrocardia, a rare congenital heart condition, can occur in about 1 out of every 12,000 pregnancies. Dextrocardia with situs solitus refers to when the heart is on the right side of the thorax while other viscera are found in their normal positions. The condition can go unnoticed in cases of limited prenatal care and newborn evaluation, leading to patients never receiving pertinent cardiac evaluations and condition progression monitoring throughout their lives. This is the first case reported of isolated dextrocardia with situs solitus in a neonate without any additional cardiovascular abnormalities. This case report highlights the importance of prenatal and postnatal evaluation to ensure the identification of neonates with dextrocardia and improve their quality of life and outcomes.

Mirror syndrome is a rare condition of generalized maternal oedema caused by fetal hydrops. A 37-year-old patient was admitted to our hospital because of suspected mirror syndrome caused by fetal cardiomyopathy. At 26^th week of gestation patient developed bilateral pulmonary oedema as her condition rapidly deteriorated. Consequently, preterm labor was induced, percutaneous evacuation of fetal ascites was performed, and the patient finally vaginally delivered stillborn fetus. Although the initial postpartum period was severely complicated by hemorrhage, the condition of the patient significantly improved later, and she was discharged seven days after delivery. We believe this case is worth presenting due to its rarity and significant perinatal and obstetric challenges in treatment of those patients. Furthermore, preimplantation genetic testing could be performed to prevent at least some of the cases.

Eosinophilic enteritis (EoN), a subtype of eosinophilic gastrointestinal disease, is a rare and complicated inflammatory condition affecting the small intestine. This case report discusses a 42-year-old patient who presented with acute gastrointestinal symptoms including diarrhea, nausea, and vomiting. Initial laboratory investigations revealed leukocytosis, peripheral eosinophilia, and distinctive imaging findings, prompting further evaluation. Endoscopic evaluation revealed extensive mucosal lesions in the small intestine, with subsequent biopsies confirming eosinophilic infiltration, ultimately leading to the diagnosis of chronic enteritis, probably of an eosinophilic nature. The case highlights the complex differential diagnostic process involved in identifying EoN, which requires a comprehensive understanding of all the clinical and histopathological features of the disease. The efficacy of budesonide therapy is also discussed in the management of EoN and it was evidenced by our patient's positive response to treatment. This case report contributes significant insights into the understanding and management of EoN, providing essential information for the medical community to facilitate accurate diagnosis and tailored therapeutic interventions for individuals experiencing this complex disorder.