Journal of medical cases最新文献

The clinical applications of dexmedetomidine in infants and children have included sedation during mechanical ventilation, prevention of post-anesthesia delirium, control of procedure-related pain and anxiety, and treatment of shivering. We present anecdotal experience with the use of dexmedetomidine to treat hiccups that developed intraoperatively in an adolescent following the induction of anesthesia and placement of a laryngeal mask airway. The neural pathways and neurotransmitters involved with hiccups are reviewed, options for intraoperative treatment presented, and previous reports of the use of dexmedetomidine in this clinical scenario discussed.

Intestinal malrotation is a rare congenital anomaly that often presents as an acute surgical emergency in neonates, requiring prompt diagnosis and intervention to prevent life-threatening complications. We report the case of a 14-day-old male infant who presented with a 24-h history of bilious vomiting and bloody stools, accompanied by severe dehydration and laboratory findings suggestive of volvulus. Imaging studies confirmed intestinal malrotation, and the patient underwent an urgent open Ladd's procedure, which revealed malrotation without volvulus. The patient successfully recovered with the resolution of symptoms and normalization of laboratory parameters. This case underscores the importance of early recognition, timely surgical management, and multidisciplinary care in ensuring favorable outcomes for neonates with intestinal malrotation.

Fetal ovarian cysts (FOCs) are a rare prenatal finding that may be associated with maternal, fetal, or neonatal complications. They are classified by various features - small or large, simple or complex, unilateral or bilateral - which determine whether active treatment or simple observation is required. Prenatal ultrasound enables diagnosis as early as the first trimester, though most cases are detected in the second or third trimester. We present a case of a simple, small FOC diagnosed at 27 weeks of gestation in primigravida without accompanying diseases. The cyst remained uncomplicated throughout pregnancy and after birth, with spontaneous regression observed within the first year of life. We also conducted a brief literature review on the management of different types of FOCs. Small, asymptomatic FOCs detected in the second or third trimester usually require only ultrasound monitoring, as most regress spontaneously within the first year after birth. Symptomatic neonatal ovarian cysts, as well as those that enlarge during follow-up in pregnancy, carry a risk of ovarian torsion and generally require surgical intervention. Complex cysts and large cysts may be monitored conservatively unless they cause symptoms or show growth on serial ultrasounds.

Combined oxidative phosphorylation deficiency 6 (COXPD6) is a severe mitochondrial encephalomyopathy resulting from a mutation in the X-linked apoptosis-inducing factor mitochondrion-associated 1 (AIFM1) gene. The AIFM1 gene located on chromosome Xq26.1, encodes apoptosis inducing factor (AIF), a flavin adenine dinucleotide (FAD)-dependent nicotinamide adenine dinucleotide (NADH) oxidoreductase, which is involved in the process of oxidative phosphorylation and mitochondrial-derived programmed cell death in the nucleus. COXPD6 patients have significant end-organ involvement of the central nervous, peripheral nervous, respiratory, and gastrointestinal systems, manifested by seizures, hypotonia, psychomotor delay, muscle weakness, and wasting. We present an 11-year-old child with AIFM1-related COXPD6 who underwent posterior spinal fusion for progressive neuromuscular kyphoscoliosis. We explore the genetic history of this mitochondrial disorder, review a detailed anesthetic approach to perioperative management including use of the novel benzodiazepine, remimazolam, and discuss anesthetic considerations in these patients.

Vasoplegic shock is defined by a pathological reduction in systemic vascular resistance, leading to hypotension despite normal or elevated cardiac output. A key therapeutic challenge lies in the profound and often refractory nature of the hypotension, which may not respond to conventional fluid resuscitation or adrenergic vasopressors. In this report, we describe the intraoperative use of a novel vasoactive agent, angiotensin II, for the treatment of vasoplegic shock during bilateral nephrectomy in an infant. We review current therapeutic options for vasoplegic shock, summarize existing pediatric reports involving angiotensin II, and discuss its emerging role in the management of this difficult-to-treat condition.

Metastasis to the cavernous bodies from colorectal cancer (CRC) is an exceptionally rare condition, typically associated with systemic dissemination and an ominous prognosis. It often presents synchronously with liver and lymph node involvement. A 43-year-old male presented with perineal pain, rectal bleeding, and urinary obstructive symptoms. Imaging studies revealed a KRAS-mutated rectal adenocarcinoma, classified as stage IV, with synchronous metastases to the cavernous bodies and liver. Treatment was initiated with FOLFOXIRI (folinic acid, 5-fluorouracil, oxaliplatin and irinotecan) chemotherapy but was discontinued due to tumor lysis syndrome and toxicity linked to a UGT1A1 mutation. Despite modified FOLFOX (folinic acid, fluorouracil, oxaliplatin) plus bevacizumab, the disease progressed rapidly, prompting transition to palliative care and subsequent death. Cavernous body involvement in CRC reflects advanced disease, frequently accompanied by synchronous metastases and a limited life expectancy. This case underscores the poor prognostic significance of such metastases, suggests pelvic lymphatic spread as a likely mechanism, and highlights the critical impact of pharmacogenetics on treatment tolerance and outcomes. A review of the literature emphasizes the aggressive biology of such presentations. Penile metastases from CRC are rare but devastating, indicating disseminated disease. Multidisciplinary management should prioritize symptom control, with targeted therapies reserved for select cases. This case illustrates the need for heightened clinical suspicion in patients with a history of malignancy presenting with urological symptoms.

Myeloid sarcoma (MS) is an uncommon solid extramedullary tumor composed of malignant myeloid blasts that can be located in various tissues. It is often associated with acute myeloid leukemia (AML), but it can also be found in patients suffering from myeloproliferative disorders or myelodysplastic syndrome. Despite the lack of consensus on the best treatment for MS, this tumor is acknowledged to be radiosensitive. We report the case of a 33-year-old female diagnosed with MS involving the breast treated with salvage radiation, after having initially undergone systemic chemotherapy and an allogeneic hematopoietic cell transplant. The purpose of this report is to discuss the significant impact of local radiotherapy in patients suffering from this unique condition.

Coronary microvascular dysfunction (CMD) is a recognized cause of persistent angina post-percutaneous coronary intervention (PCI), especially in patients without epicardial coronary stenosis. We report a case of a 58-year-old top-level sportsman and world champion ice swimmer with persistent dyspnea despite successful PCI for a mid-left anterior descending artery lesion. Follow-up angiography with optical coherence tomography showed no in-stent restenosis with good stent apposition. Angiography-derived microcirculatory resistance (AMR, Pulse Medical) and cardiac magnetic resonance imaging revealed CMD as the underlying etiology. This case demonstrates the utility and feasibility of AMR in identifying CMD post-PCI and supports its use in the diagnostic workup.

The pharmacokinetics of neuromuscular blocking agents (NMBAs) may be altered in patients with renal insufficiency or failure, including alterations in the volume of distribution or elimination of the primary drug and its metabolites. In this patient population, monitoring of the end-organ effects of NMBAs may be useful to guide initial and subsequent dosing, as well as reversal of neuromuscular blockade. Train-of-four (TOF) monitoring remains the most commonly used technique to monitor the end-organ effect of NMBAs and the neuromuscular junction. Here we present the use of an electromyography (EMG)-based TOF monitor in a 9-year-old boy with end-stage renal disease during intraoperative anesthetic care for renal transplantation. The perioperative management of such patients, including dosing of NMBAs and use of neuromuscular blockade monitoring, is discussed.

Awake neurosurgical procedures for brain tumor resections are uncommon in the pediatric population, and careful consideration is required regarding the patient's cognitive maturity, emotional readiness, and ability to cooperate throughout the intraoperative mapping process. The functional significance of the tumor location may demand precise neurological monitoring, while minimizing sedation to maintain patient responsiveness during cortical stimulation and language testing. We present the case of a 14-year-old patient who was diagnosed with a left temporal lobe tumor. Neuroimaging revealed a lesion with radiological characteristics and clinical correlation highly suggestive of a low-grade glioma. The tumor was situated within the dominant hemisphere, near eloquent cortical regions critically involved in language processing and memory function. These anatomical considerations posed a significant challenge to achieving maximal resection while minimizing the risk of neurological deficits. After thorough multidisciplinary discussion, the neurosurgical team opted for an awake craniotomy. This approach was chosen to facilitate intraoperative cortical and subcortical functional mapping, allowing real-time monitoring of language and cognitive functions. The primary objective was to achieve the greatest possible extent of safe tumor resection while preserving essential neurological functions and ensuring the patient's long-term quality of life. Anesthetic management of this patient was particularly challenging, as intraoperative seizures were a major concern due to both the tumor's cortical irritability and the stimulation required for functional mapping. We administered a combination of propofol and ketamine (ketofol) to provide monitored anesthesia care during the procedure. Preoperative planning included seizure prophylaxis, clear communication with the neurosurgical and neuropsychology teams, and the development of contingency strategies for airway management in the event that conversion to general anesthesia became necessary. This case underscores the complexity of pediatric awake craniotomy and highlights the importance of a multidisciplinary, individualized approach to optimize patient safety and surgical outcomes.