OpenMed/multicare-articles huggingface dataset:
Acute necrotizing encephalopathy associated with lymphoma-associated hemophagocytic lymphohistiocytosis: A case report and literature review
Authors: Wenqiang Sun, Changchang Fu, Xueping Zhu
Journal: Front Oncol (2022)
Keywords: acute necrotizing encephalopathy, cytokines, hemophagocytic lymphohistiocytosis, lymphoma, steroids
MeSH terms: Case Reports

Damage associated with lymphoma-associated hemophagocytic lymphohistiocytosis (LA-HLH) to the central nervous system (CNS) is not uncommon. However, the combination with brain damage resembling acute necrotizing encephalopathy (ANE) is rarely reported. Herein, we introduce the diagnosis and treatment of a case of ANE associated with LA-HLH in our hospital and review the relevant literature. After treatment, the child was discharged with only dysarthria and decreased sucking ability. The child is now discharged from the hospital for 6 months with regular follow-up. There were no disease recurrence signs. LA-HLH and ANE were related to cytokine storm. Therefore, early steroid application is essential for treating these diseases.
Surgical Management of Right Atrial Mass Associated with a Vascular Access Catheter
Authors: David Ferreira, Anthony Le, John Khoo, Paul Nguyen, Manish Jain, Timothy Spicer, Craig Juergens
Journal: Case Rep Cardiol (2020)
MeSH terms: Case Reports

Atrial masses are an uncommon but serious clinical problem. The authors report a case of an atrial mass associated with a tunnelled vascular access catheter in an immunosuppressed haemodialysis patient. In the setting of immunosuppression with fevers, a broad differential for the atrial mass was considered. Multidisciplinary team review was pursued to guide management decisions. Ultimately, surgical excision of the mass was pursued with an excellent result. The causes and management of this complex clinical scenario are discussed.
An unusual cause of visual loss after Herpes zoster ophthalmicus: a case report
Authors: Jayne E Camuglia, Jacqueline E Beltz, Kavita Khurana, Anthony Jh Hall
Journal: Cases J (2010)

Introduction:
The vascular complications of herpes zoster are well recognised, however, there are few reports of central retinal artery occlusion. Central retinal artery occlusion following herpes zoster ophthalmicus is poorly recognised. This is likely due to the difficulties in obtaining tissue for histopathology to establish causality. We report a case of central retinal artery occlusion and complete internal carotid artery occlusion following herpes zoster ophthalmicus.
Case presentation:
A 44 year old Caucasian female presented with sudden painless loss of vision in her right eye on a background of chronic lymphocytic leukaemia and right sided herpes zoster ophthalmicus. She was initially treated with steroids and antivirals for an underlying presumed vasculitic cause, but review at 24 hours demonstrated a right central retinal artery occlusion. Embolic screen identified complete occlusion of the right internal carotid artery. She was treated with oral antiviral medication for three weeks but had no visual recovery.
Conclusion:
This case highlights an uncommon cause of acute visual loss. We propose that the underlying small and large vessel occlusion in this patient was due to herpes zoster related vasculopathy. A review of the literature is presented to trace the historical perspective of herpes zoster related vasculopathy.
Ventricular Septal Rupture-The Resurgence of a Post-Myocardial Infarction Dreadful Complication during COVID-19 Pandemic
Authors: João Ferreira Reis, Luís Almeida Morais, Lídia Sousa, António Fiarresga
Journal: Case Rep Cardiol (2023)
MeSH terms: Case Reports

In the midst of the coronavirus disease-2019 (COVID-19) pandemic, an 84-year-old female patient was admitted due to non-exertional syncope preceded by retrosternal pain. She had experienced a prolonged episode of oppressive chest pain 6 days before her presentation, but due to the concern of contracting COVID-19, she did not present for medical care. Upon admission to the emergency department, the patient was in circulatory shock, with her physical examination being remarkable for the presence of a holosystolic murmur. Admission electrocardiogram revealed an inferior ST-segment elevation with Q waves with extension to the posterior wall, consistent with subacute infarct in the right coronary artery (RCA) territory, and the patient was transferred for primary percutaneous coronary intervention. Upon arrival to the catheterization laboratory, a summary transthoracic echocardiogram was performed, which revealed inferior wall and infero-septal akinesia with an 18 mm ventricular septal rupture. Coronary angiography documented occlusion of the proximal segment of a dominant RCA. Due to a high perioperative risk, the patient underwent successful retrograde percutaneous closure with a 24 mm MemoPart™ device, with mild to moderate residual shunt. Despite an immediate clinical improvement, the patient died 12 hours after the procedure due to refractory cardiogenic shock.
Identification of Isocitrate Dehydrogenase 2 (IDH2) Mutation in Carotid Body Paraganglioma
Authors: Fengchao Lang, Abhishek Jha, Leah Meuter, Karel Pacak, Chunzhang Yang
Journal: Front Endocrinol (Lausanne) (2021)
Keywords: d-2-hydroxyglutarate, idh2, pet/ct, carotid body tumor, isocitrate dehydrogenase 2, paraganglioma
MeSH terms: Carotid Body Tumor / pathology, Glutarates / metabolism, Isocitrate Dehydrogenase / genetics, Mutation, Paraganglioma / pathology, Case Reports, Research Support, N.I.H., Intramural, Carotid Body Tumor / enzymology, Carotid Body Tumor / genetics, Female, Humans, Middle Aged, Paraganglioma / enzymology, Paraganglioma / genetics, Prognosis, Glutarates, alpha-hydroxyglutarate, IDH2 protein, human, Isocitrate Dehydrogenase

Carotid body paragangliomas (PGLs) are rare neuroendocrine tumors that develop within the adventitia of the medial aspect of the carotid bifurcation. Carotid body PGLs comprise about 65% of head and neck paragangliomas, however, their genetic background remains elusive. In the present study, we report one case of carotid body PGL with a somatic mutation in the gene encoding isocitrate dehydrogenase 2 (IDH2). The missense mutation in IDH2 resulted in R172G amino acid substitution, which exhibits neomorphic activity and production of D-2-hydroxyglutarate.
Azygos vein lead implantation for high defibrillation thresholds in implantable cardioverter defibrillator placement
Authors: Naga Va Kommuri, Sri Lakshmi S Kollepara, E Saulitis, Ma Siddiqui
Journal: Indian Pacing Electrophysiol J (2010)
Keywords: azygos vein lead, high defibrillation threshold, implantable cardioverter defibrillator

Evaluation of defibrillation threshold is a standard of care during implantation of implantable cardioverter defibrillator. High defibrillation thresholds are often encountered and pose a challenge to electrophysiologists to improve the defibrillation threshold. We describe a case series where defibrillation thresholds were improved after implanting a defibrillation lead in the azygos vein.
The efficacy of recombinant tissue plasminogen activator in severe post-operative fibrinous reaction after uneventful phacoemulsification - a case series and review
Authors: Ainul Basirah Ibramsah, Aliff Irwan Cheong, Wan Norliza Wan Muda, Mohtar Ibrahim
Journal: Rom J Ophthalmol (2022)
Keywords: fibrin, fibrinolysis, phacoemulsification
MeSH terms: Cataract / complications, Eye Diseases / etiology, Phacoemulsification / adverse effects, Tissue Plasminogen Activator / therapeutic use, Case Reports, Review, Female, Fibrin, Fibrinolytic Agents / therapeutic use, Humans, Middle Aged, Recombinant Proteins / therapeutic use, Fibrinolytic Agents, Recombinant Proteins, Fibrin, Tissue Plasminogen Activator

Objective: To report the effectiveness of recombinant human tissue plasminogen activator (rtPA) in severe post-operative fibrinous reaction. Method: The presentation of a case series. Result: Four patients developed severe post-operative inflammation about six days after an otherwise uneventful cataract surgery. Three women, with an average age of 63.25 years old, were included. At the same time, three patients had underlying comorbidities such as diabetes mellitus and hypertension. The average duration of the operation was 31.25 minutes. All operations were performed by different surgeons. All underwent uneventful cataract surgery. They presented with a dense fibrin in anterior chamber within a week of post-operative review. All patients received 25 micrograms in 0.1 mL of intracameral rtPA injection. Assessment included anterior chamber fibrin reaction before and after injection by slit lamp biomicroscopy two hours, 24 hours and one week after rtPA application. Serial visual acuity and intraocular pressure (IOP) were taken pre and one-week post rtPA application. Injection of rtPA effectively caused fibrinolysis in all the cases presented. Conclusion: Fibrinolysis after cataract surgery with conventional topical medications can be time consuming and less efficient. Intracameral application of 25 μg rtPA is an efficient management of fibrin reaction in cataract surgery. Abbreviations: rtPA = recombinant tissue plasminogen activator, IOP = intraocular pressure, BCVA = best corrected visual acuity, PCIOL = posterior chamber intraocular lens.
An Unusual Mechanism of Closure of Muscular Ventricular Septal Defects
Authors: Soham Dasgupta, Ashraf M Aly
Journal: Case Rep Pediatr (2017)
MeSH terms: Case Reports

Ventricular septal defects (VSDs) are the most common congenital heart defects. Most of the small or moderate size (<6 mm) muscular VSDs close spontaneously within the first two years of life. The usual mechanism of spontaneous closure involves muscular tissue encroachment with superimposed fibrosis or primary fibrous tissue formation around the margins of the defect. We describe an unusual mechanism of spontaneous closure of a muscular VSD.
Dorsal-approach open reduction for irreducible dislocation of the hallux interphalangeal joint: A case series
Authors: Kanta Imao, Hitoshi Miwa, Kazutoshi Watanabe, Norio Imai, Naoto Endo
Journal: Int J Surg Case Rep (2018)
Keywords: interphalangeal joint, irreducible dislocation, plantar plate interposition, sesamoid bone interposition

Introduction:
The common treatment for hallux interphalangeal joint dislocation is closed reduction, but some cannot be reduced by interposition of the sesamoid or the plantar plate in the interphalangeal joint, and such cases need open reduction.
Presentation of case:
In case 1, the patient was a 17-year-old boy who was injured when a motorcycle fell on his right hallux. X-ray revealed Miki type 2 IP joint dislocation. Because closed reduction failed, open reduction via the dorsal approach to the hallux IP joint was performed. In case 2, the patient was a 17-year-old boy who was hit by a car whilst walking. X-ray revealed Miki type 2 dorsal dislocation of the hallux IP joint. After closed reduction, X-ray and CT revealed that the IP joint dislocation changed from Miki type 2 to type 1. Open reduction was performed through the dorsal approach.
Discussion:
Fifteen cases of Miki type 2 changed to type 1 after closed reduction, and type 1 dislocation is often overlooked, leading to some chronic cases. X-rays should be performed after repositioning, specifically in lateral and oblique views.
Conclusion:
We experienced two cases of irreducible dislocation of the hallux IP joint. One of our cases was reclassified from Miki type 2 to type 1, but we did not overlook the failed closed reduction, as we performed CT. Hence, we recommend additional lateral-view X-rays and/or CT imaging.
Severe hypocalcemia following a single injection of denosumab in a patient with renal impairment
Authors: Draupadi B Talreja
Journal: J Drug Assess (2012)
Keywords: denosumab, hypocalcemia, renal impairment, safety

Monitoring renal function and adjusting dosing for patients with impaired renal function are not required with denosumab (60 mg every 6 months). However, these patients have an increased risk for developing hypocalcemia. This case report describes a patient with renal impairment who developed severe hypocalcemia after receiving denosumab.
Rhabdomyolysis after lamotrigine overdose: a case report and review of the literature
Authors: Sokratis E Karaoulanis, Markos Syngelakis, Konstantinos Fokas
Journal: Ann Gen Psychiatry (2016)
Keywords: lamotrigine, overdose, rhabdomyolysis
MeSH terms: Case Reports

Background:
Lamotrigine is an effective anticonvulsant drug that has also been demonstrated to be effective in the treatment of bipolar disorder. We report a case of rhabdomyolysis after intentional overdose in a woman aged 48.
Case presentation:
A 48-year-old female presented to the emergency department after an acute ingestion of 6 g of lamotrigine. The patient suffered from bipolar disorder, and she was taking lamotrigine and olanzapine. At that point, she had a major depressive episode, and she wanted to commit suicide. Activated charcoal was administered in the emergency department. Her vital signs were still normal, and she entered the Medical clinic, where she had been there for 2 days in a good condition. The hematological and biochemical results were normal. On the fourth day, the levels of creatine phosphokinase (CPK) showed remarkable increase (2500 IU/ml). Fluid and bicarbonate intravenous administration was performed, and CPK levels returned to normal after 3 days.
Conclusion:
The majority of patients exposed to lamotrigine in overdose experienced no toxic clinical effects. The most common clinical effects are drowsiness and lethargy, vomiting, nausea, ataxia, dizziness/vertigo, and tachycardia. In this case report, the patient was alert and did not have any serious complications, except for mild rhabdomyolysis, which was the main consequence of lamotrigine overdose.
Case Report: Effects of Secondary Hyperparathyroidism Treatment on Improvement of Juvenile Nephronophthisis-Induced Pancytopenia and Myelofibrosis
Authors: Keishiro Amano, Hidemi Toyoda, Kouhei Nishikawa, Tomohiro Murata, Masahiro Hirayama
Journal: Front Pediatr (2021)
Keywords: end-stage-renal disease, hyperparathyoidism, myelofibrosis, nephronophthisis, pancytopenia
MeSH terms: Case Reports

Secondary hyperparathyroidism (HPT) is a common complication of end-stage renal disease (ESRD) and may be an important precipitating factor for the development of myelofibrosis. However, there have been only a few reports on myelofibrosis caused by secondary HPT in children. We describe a case of a 15-year-old boy with myelofibrosis due to secondary HPT who was successfully treated with hemodialysis, erythropoietin, phosphate binders, and activated vitamin D agents. The patient had no past medical history and had been admitted to the hospital for abdominal pain. Routine blood examination revealed pancytopenia combined with renal impairment. Hyperphosphatemia, decreased 1,25-dehydroxyvitamin D, decreased serum calcium, and increased parathyroid hormone (PTH) levels were observed. Bone marrow biopsy confirmed myelofibrosis and renal biopsy revealed nephronophthisis (NPHP). The possibility of renal osteodystrophy and myelofibrosis due to secondary HPT was considered. Hemodialysis and erythropoietin were initiated and combined therapy with a phosphate binder and an active vitamin D agent achieved greater reduction of PTH levels, along with improvement of pancytopenia. As medical treatment for secondary HPT can lead to a reversal of myelofibrosis and avoid parathyroidectomy in children, prompt recognition of this condition has major implications for treatment. Therefore, despite its rarity, pediatricians should consider myelofibrosis due to secondary HPT as a cause of pancytopenia in patients with chronic kidney disease.
Chylothorax and Chylopericardium: A Complication of Long-Term Central Venous Catheter Use
Authors: James Livesay, Isaac Biney, J Francis Turner Jr
Journal: Case Rep Pulmonol (2019)
MeSH terms: Case Reports

The development of chylothorax and chylopericardium is an uncommon complication of the long-term use of central venous catheters. We describe a unique case of an end stage renal disease patient on hemodialysis with a left jugular tunneled catheter who developed superior vena cava syndrome. Our patient presented with both a large pleural and pericardial effusion that despite drainage continued to reaccumulate. Further imaging with CT scan of the thorax revealed stenosis of the superior vena cava leading to recurrent chylothorax and chylopericardium.
Cranial and Cervical Muscular Weakness in Mitochondrial Myopathy Is Associated With Resolution of Migraine Headaches: Further Evidence That Muscular Compression of Cranial and Peripheral Nerves Is a Cause of Headache in a Subset of Patients With Migraine
Authors: Edward P Miranda
Journal: Eplasty (2015)
Keywords: cranial nerve, migraine, mitochondrial myopathy, peripheral nerve, trigeminal
MeSH terms: Case Reports

Objective:
A significant subset of patients with migraine headaches has pain relief after neuroplasty/muscular decompression of select cranial and cervical nerves. In the majority of cases, compression occurs secondary to compression of the nerves by adjacent muscles. Previous studies have shown that both surgical decompression and chemical denervation (eg, botulinum toxin) provide relief of migraine headaches; however, controversy remains. If some migraine headaches are caused by muscular compression, then paresis of the compressing muscles by underlying myopathic/metabolic disease should result in migraine relief in some patients.
Methods:
We report a case of mitochondrial myopathy causing weakness primarily of the muscles of facial expression and the neck in the context of chronic migraine headaches (>20-year history). Muscle biopsy was obtained to confirm the myopathic diagnosis.
Results:
There was complete resolution of the patient's migraine headaches that occurred simultaneously with the onset of symptomatic paresis of the muscles of facial expression and the neck. The relief has persisted for more than 10 months. Neurologic evaluation and muscle biopsy confirmed a diagnosis of mitochondrial myopathy.
Conclusions:
Pathologic paresis/paralysis of facial and/or cervical muscles can result in persistent resolution of migraine headache pain, giving further evidence to the concept that peripheral and/or cranial nerve compression causes migraine headache pain in a subset of patients with a diagnosis of migraine.
Extraspinal type I dural arteriovenous fistula with a lumbosacral lipomyelomeningocele: a case report and review of the literature
Authors: Khaled M Krisht, Michael Karsy, Wilson Z Ray, Andrew T Dailey
Journal: Case Rep Neurol Med (2015)

Seven cases of adult spinal vascular malformations presenting in conjunction with spinal dysraphism have been reported in the literature. Two of these involved male patients with a combined dural arteriovenous fistula (DAVF) and lipomyelomeningocele. The authors present the third case of a patient with an extraspinal DAVF and associated lipomyelomeningocele in a lumbosacral location. A 58-year-old woman with rapid decline in bilateral motor function 10 years after a prior L4-5 laminectomy and cord detethering for diagnosed tethered cord underwent magnetic resonance imaging showing evidence of persistent cord tethering and a lipomyelomeningocele. Diagnostic spinal angiogram showed a DAVF with arterial feeders from bilateral sacral and the right internal iliac arteries. The patient underwent Onyx embolization of both feeding right and left lateral sacral arteries. At 6-month follow-up, MRI revealed decreased flow voids and new collateralized supply to the DAVF. The patient underwent successful lipomyelomeningocele exploration, resection, AV fistula ligation, and cord detethering. This report discusses management of this patient as well as the importance of endovascular embolization followed by microsurgery for the treatment of cases with combined vascular and dysraphic anomalies.
Cytogenomic characterization of 1q43q44 deletion associated with 4q32.1q35.2 duplication and phenotype correlation
Authors: A M Mohamed, H T El-Bassyouni, A M El-Gerzawy, S A Hammad, N A Helmy, A K Kamel, S I Ismail, M Y Issa, O Eid, M S Zaki
Journal: Mol Cytogenet (2018)
Keywords: chromosome 1q43-q44 deletion syndrome, chromosome 4 duplication syndrome, hypogenesis of corpus callosum, microcephaly, multiple abnormalities
MeSH terms: Case Reports

Background:
Microdeletion of 1q43q44 causes a syndrome characterized by intellectual disability (ID), speech delay, seizures, microcephaly (MIC), corpus callosum abnormalities (CCA) and characteristic facial features. Duplication of 4q is presented with minor to severe ID, MIC and facial dysmorphism. We aimed to verify the correlation between genotype/phenotype in a patient with 1q43q44 deletion associated with 4q32.1q35.2 duplication.
Case presentation:
We report on a 3 year-old female patient with delayed motor and mental milestones, MIC and facial dysmorphism. She is a child of non-consanguineous parents and no similarly affected family members. CT brain showed abnormal gyral patterns, hypogenesis of corpus callosum and bilateral deep Sylvian fissure. Electroencephalogram showed frontotemporal epileptogenic focus. Her karyotype was revealed as 46,XX,add(1)(q44). Fluorescence in situ hybridization (FISH) using whole chromosome paint (WCP1) and subtelomere 1q revealed that the add segment was not derived from chromosome 1 and there was the deletion of subtelomere 1q. Multiple ligation probe amplification (MLPA) subtelomere kit revealed the deletion of 1q and duplication of 4q. Array CGH demonstrated the 6.5 Mb deletion of 1q and 31 Mb duplication of chromosome 4q.
Conclusion:
The phenotype of our patient mainly reflects the effects of haploinsufficiency of AKT3, HNRNPU, ZBTB18 genes associated with duplication of GLRA3, GMP6A, HAND2 genes. Patients presented with ID, seizures, MIC together with CCA are candidates for prediction of 1q43q44 microdeletion and cytogenomic analysis.