Journal of medical cases最新文献

Dandy-Walker syndrome is a rare congenital malformation of the posterior fossa that presents unique anesthetic challenges, including difficult airway management, altered consciousness, hydrocephalus, and potential for prolonged postoperative ventilation. Hydrocephalus, the most common finding, can complicate ventilation and intubation, whereas brainstem involvement, along with agenesis of the corpus callosum, pontine hypoplasia, and distortion of the medullary respiratory centers, may contribute to prolonged postoperative ventilation. Anesthetic management in such cases requires thorough airway assessment, preparation for potential airway difficulties, intracranial pressure monitoring and control, and total intravenous anesthesia (TIVA) to facilitate rapid emergence. We describe the case of a 3-year-old male with macrocephaly, movement disorders, delayed cognitive development, and altered mental status, scheduled for ventriculoperitoneal shunt placement under TIVA without muscle relaxants, with careful airway preparation and intracranial pressure control. To our knowledge, this is the first reported case of Dandy-Walker syndrome managed in this manner.

Ribociclib, a cyclin-dependent kinase 4/6 (CDK4/6) inhibitor, is widely used in the treatment of hormone receptor-positive (HR+), human epidermal growth factor receptor 2 (HER2)-negative metastatic breast cancer. Although hepatotoxicity is a recognized adverse effect, severe cases of ribociclib-induced liver injury with histologic confirmation of submassive hepatic necrosis remain rare. We describe a case of a postmenopausal woman with newly diagnosed stage IV HR+/HER2-negative invasive lobular carcinoma who developed acute hepatocellular injury 8 weeks after initiating ribociclib and anastrozole. The patient presented with fatigue, jaundice, and dark urine, and was found to have markedly elevated transaminases (alanine aminotransferase 1,825 U/L; aspartate aminotransferase 1,536 U/L) and hyperbilirubinemia. A thorough workup excluded viral, autoimmune, and obstructive hepatobiliary causes. Liver biopsy demonstrated confluent centrilobular necrosis without fibrosis or significant inflammation. Causality assessments yielded an R-factor of 20.73, a Roussel Uclaf Causality Assessment Method score of 10 (highly probable), and a Naranjo score of 7 (probable). Ribociclib was discontinued and intravenous N-acetylcysteine (NAC) initiated, leading to gradual normalization of liver enzymes. The patient was maintained on anastrozole alone, with no recurrence of liver injury and stable disease at 13-month follow-up. This case highlights the potential for ribociclib to induce severe hepatocellular injury with histologic evidence of submassive necrosis. Early recognition and structured causality assessment ensures patient safety. In patients with significant hepatotoxicity, discontinuation of ribociclib and non-rechallenge may be prudent. Furthermore, consideration of NAC in management is important in cases demonstrating persistent transaminitis despite ribociclib discontinuation.

Tuberous sclerosis complex (TSC) is a neurocutaneous disorder inherited in autosomal dominant manner. It is characterized by multisystem involvement due to the formation of hamartomas in different organs. TSC2 gene mutations are the most common cause of the disease and are associated with more severe neurological symptoms compared to TSC1 gene mutations. However, in our case, we are reporting a rare mutation detected at the flanking splice site of exon 37 in the TSC2 gene in a 2-year-5-month-old girl. She presented to the emergency department at the age of 1 month with generalized abnormal body movements. A review of genetic databases revealed no prior reports of this gene in the literature. Her diagnosis was confirmed by gene panel for TCS. Later, she developed renal cell carcinoma. Such cases are managed by a multidisciplinary team including a pediatrician, a pediatric neurologist, a pediatric cardiologist, a pediatric hematology-oncology specialist, and specialist in pediatric surgery. The overall prognosis of children with TSC is variable and dependent on the severity of symptoms, especially neurologic manifestations.

Calcium chloride dihydrate (CaCl₂·2H₂O), a common component in household dehumidifiers in South Korea, poses a significant risk of toxicity upon ingestion. We present a case of life-threatening hypercalcemia following intentional calcium chloride dihydrate ingestion, with a focus on electrolyte homeostasis and physiological adaptation. An 86-year-old Korean woman presented with transient unconsciousness after ingesting dehumidifier fluid. She exhibited drowsiness and developed sinus tachycardia 10 h later. Severe hypercalcemia (19.4 mg/dL) was the main biochemical disturbance. Parathyroid hormone was initially suppressed but later rose, facilitating renal calcium excretion and phosphorus regulation. Electrolyte levels normalized by day 4. Prompt treatment, including gastric lavage and cardiac management, led to a full recovery. A rapid parathyroid hormone response played a crucial role in restoring calcium balance.

Pure red cell aplasia (PRCA) is a potential complication after ABO-incompatible allogeneic hematopoietic stem cell transplantation (HCT). In case where PRCA persists beyond 60 days post-HCT, spontaneous resolution is rare, and therapeutic intervention is typically required. However, there is currently no established standard of care for its management. We report two cases of post-transplant PRCA that were refractory to conventional therapies, including erythropoietin and rituximab, and were successfully treated with daratumumab. These cases underscore the potential role of daratumumab as an effective therapeutic option in the management of PRCA following ABO-incompatible HCT. Given the limited data available on its use in this setting, our report contributes with valuable clinical evidence supporting its efficacy and safety.

Bladder paraganglioma accounts for < 0.05% of all bladder tumors, and very few cases have been reported to date. Because clinical and radiological findings are often nonspecific, many lesions are misdiagnosed until surgery, exposing patients to preventable perioperative catecholamine crises. We report an unusual case of a 77-year-old woman, in whom a 17-mm bladder paraganglioma was discovered incidentally during imaging for suspected Crohn's disease. The patient was entirely asymptomatic and had normal catecholamine levels. Transurethral resection of the bladder (TURB) achieved complete excision, and no recurrence was detected at 6-month follow-up. This case illustrates that bladder paraganglioma can occur outside the typical age range and without adrenergic symptoms, emphasizing the need to consider this entity in the differential diagnosis of any well-circumscribed, hypervascular bladder mass. Early recognition enables appropriate perioperative planning and long-term multidisciplinary surveillance. We discuss the tumor's characteristics, management, and the importance of long-term surveillance.

Hemifacial spasm (HFS) is a neurological disorder characterized by involuntary, paroxysmal contractions of the muscles innervated by the facial nerve on one side of the face. While primary HFS is most often caused by vascular compression at the root exit zone (REZ) of the facial nerve, secondary causes such as tumors, arteriovenous malformations, and intracranial aneurysms are rare. The management of HFS due to aneurysmal compression remains challenging, and the literature on endovascular treatment, particularly with flow diverter stents, is limited. We report the case of a 56-year-old woman with a history of diabetes mellitus type 2, hypertension, and hypercholesterolemia, who presented with progressive right-sided HFS. Imaging revealed a saccular aneurysm of the right internal carotid artery (ICA) at the cavernous-ophthalmic segment. The patient underwent successful endovascular treatment with a Derivo embolization device (DED) flow diverter stent. Her HFS resolved completely post-procedure, with no neurological deficits or recurrence at 6-month follow-up. This case highlights the efficacy of flow diverter stent placement for HFS caused by ICA saccular aneurysm and represents the first such report from Northern Cyprus. The case underscores the importance of considering secondary etiologies in atypical HFS and demonstrates the therapeutic potential of endovascular flow diversion in this context.

Our study aims to estimate the long-term cost of procedurally successful transcatheter arterialization of the deep veins (TADV) coupled with adjunct therapy. Patients with no conventional endovascular/open options were considered for TADV. TADV index procedure cost, cost of subsequent procedures and wound care/adjuncts were collected. Cost data were obtained from Medicare claims and other published sources. All patients in the study had limb salvage 180 days after TADV. Success was defined as lime salvage with no more than a transmetatarsal amputation of the affected limb. The average cost of the procedure was $320,850. The average hospital cost (hospitalization and wound care adjuncts) was $895,546. The overall average total cost was $1,216,396. TADV and associated multidisciplinary wound care approach for "no option" chronic limb-threatening ischemia does not appear to be a cost-effective strategy, with an average total cost of over 1 million dollars per patient.

Vascular calcification is common in dialysis patients and is severely associated with cardiovascular morbidity and mortality. They have mineral metabolism disorders, which are considered to promote vascular calcification. In addition, hypertension and malnutrition, both prevalent in dialysis patients, are also considered risk factors contributing to vascular calcification. Our clinic has implemented extended-hours hemodialysis without dietary restrictions to solve the problems of hypertension and malnutrition in dialysis patients. We report a case where aortic calcification was slight despite 34 years of long-term dialysis. He underwent his first computed tomography (CT) scan of the chest and abdomen 29 years after initiating hemodialysis to evaluate his kidney transplant. The abdominal aortic calcification index 29 years after initiating dialysis was low at 5.8%, and even after 5 years, it was only 6.7%. The coronary artery calcification score was moderate at 214.0, but the degree of vascular calcification appeared milder than in conventional dialysis patients. His dialysis modality is unique. He began extended-hours hemodialysis without dietary restrictions 1.5 years after his transfer to our clinic, extending his dialysis time to 6 h. He gradually increased it to 10 h, and the dietary restriction was significantly relaxed. Moreover, he has been undergoing this treatment for about 26 years. His muscle mass increased, and his nutritional status remained adequate. The mean serum phosphorus and calcium levels were within the normal range (5.4 ± 0.5 mg/dL and 8.8 ± 0.3 mg/dL), and the calcium-based phosphate binder was successfully reduced and eventually discontinued. Furthermore, the blood pressure normalized without the use of antihypertensive medications. These may have removed some of the risk factors for vascular calcification. Recent studies suggest that extended-hours hemodialysis without dietary restrictions significantly lowers calciprotein particle levels, a risk factor for vascular calcification, compared to conventional dialysis. In conclusion, extended-hours hemodialysis without dietary restrictions may reduce the risk of vascular calcification by improving control of malnutrition, hypertension, and mineral metabolism.

Catecholamine-induced cardiomyopathy secondary to paraganglioma is a rare and potentially reversible condition. However, the course of recovery post-resection remains variable and may be delayed despite biochemical cure. We present the case of a 47-year-old male with biopsy-confirmed extra-adrenal paraganglioma who developed acute decompensated heart failure due to catecholamine-induced cardiomyopathy (left ventricular ejection fraction (LVEF) 30-35%) and multiorgan dysfunction. Despite successful surgical resection, his LVEF remained reduced postoperatively, and he was discharged on heart failure therapy and a wearable cardioverter defibrillator. A follow-up echocardiogram showed improvement in LVEF to 45% 2 weeks later, but his blood pressure remained poorly controlled despite adherence to a multi-drug regimen and lifestyle measures. He was readmitted with a transient ischemic attack (TIA) shortly after surgery. This case illustrates the variable recovery trajectory in paraganglioma-induced cardiomyopathy and highlights persistent cardiovascular risks, including resistant hypertension and cerebrovascular events despite biochemical cure. It emphasizes the importance of ongoing cardiac surveillance and multidisciplinary management, particularly in patients facing socioeconomic barriers to follow-up care.