OpenMed/multicare-articles huggingface dataset:
"What Goes Up Must Come Down": Laparoscopic Retrieval of a Migrated Intrathoracic Kidney and Repair of Recurrent Symptomatic Diaphragmatic Hernia
Authors: Nisha Pindoria, Jonathan Makanjuola, Abrie Botha, Rajesh Nair, Ramesh Thurairaja
Journal: J Endourol Case Rep (2018)
Keywords: bochdalek-type congenital diaphragmatic hernia, ectopic intrathoracic kidney, primigravida
MeSH terms: Case Reports

Background: Congenital diaphragmatic hernia is a rare condition describing a developmental defect of the diaphragm. It is managed surgically in the neonatal period by reduction of the herniated viscera followed by repair of the defect. We present a laparoscopic repair of a Bochdalek diaphragmatic hernia recurrence with retrieval and nephropexy of a migrated kidney with reduced function from its ectopic thoracic position. The complexities of managing this rare occurrence and lessons from this surgical challenge are discussed. Case Presentation: A 21-year-old primigravida presented with a 3-day history of right upper quadrant pain and increasing dyspnea. Of note, she had undergone a congenital right-sided diaphragmatic hernia repair as an infant. An MRI revealed a recurrent diaphragmatic defect with ectopic migration of the right kidney and bowel into an intrathoracic position. Due to worsening dyspnea, she underwent prompt laparoscopic repair of her recurrent diaphragmatic hernia. Subsequently, she underwent a planned cesarean section to control her intra-abdominal pressures and reduce the risk of hernia repair failure. Conclusion: Raised intra-abdominal pressures during pregnancy in patients with prior congenital hernia repair can result in recurrence and migration of peritoneal and retroperitoneal contents into the chest. In cases of renal unit migration, the primary concern must be to restore the anatomical position of a functioning kidney. Multidisciplinary specialist involvement in a tertiary referral base is crucial to an effective outcome.
Case Report: m.13513 G>A Mutation in a Chinese Patient With Both Leigh Syndrome and Wolff-Parkinson-White Syndrome
Authors: Jian-Min Liang, Cui-Juan Xin, Guang-Liang Wang, Xue-Mei Wu
Journal: Front Pediatr (2021)
Keywords: 13513 mutation, leigh syndrome, wolff-parkinson-white syndrome 2, neurology, pediatric
MeSH terms: Case Reports

A number of causative mutations in mitochondrial and nuclear DNA have been identified for Leigh syndrome, a neurodegenerative encephalopathy, including m. 8993 T>G, m.8993 T>C, and m.3243A>G mutations in the MTATP6, MTATP6, and MT-TL1 genes, respectively, which have been reported in Leigh syndrome patients in China. The m.13513 G>A mutation has been described only a few times in the literature and not previously reported in China. Here we report the case of a 15-month-old boy who presented with ptosis and developmental delay and was diagnosed with Leigh syndrome and well as Wolff-Parkinson-White (WPW) syndrome. The m.13513 G>A mutation was found in DNA from blood. He was intubated due to respiratory failure and died at 23 months of age. The m.13513 G>A mutation in the ND5 gene of mitochondrial DNA is associated with Leigh syndrome and WPW syndrome; however, this is the first report of this mutation in a patient in China, highlighting the geographical and racial variability of Leigh syndrome.
Unusual extraconal orbital location of a cavernous hemangioma
Authors: Gabriela Pacheco Callirgos, Francisco Javier Valentín Bravo, Pablo Panadero Meseguer, Víctor Manuel Asensio Sánchez
Journal: GMS Ophthalmol Cases (2022)
MeSH terms: Case Reports

Cavernous hemangioma is the most common benign orbital and vascular tumor in adults. It is mostly located intraconally. Nevertheless, when the location is extraconal, the displacement of the globe is opposite the tumor's position. We describe an unusual presentation of this tumor in a 75-year-old female. The only symptom was the presence of epiphora. In the clinical examination, a mass was palpated on the lower orbital rim of the right eye. The magnetic resonance imaging (MRI) showed a well-circumscribed ovoid mass with a strong T2 hyperintensity and progressive contrast filling in T1. Excisional biopsy was performed, which confirmed the diagnosis of cavernous hemangioma. At five months of follow-up, there was no evidence of new symptoms.
Case Report: Early Association of Vemurafenib to Standard Chemotherapy in Multisystem Langerhans Cell Histiocytosis in a Newborn: Taking a Chance for a Better Outcome?
Authors: Stefania Gaspari, Valentina Di Ruscio, Francesca Stocchi, Roberto Carta, Marco Becilli, Maria Antonietta De Ioris
Journal: Front Oncol (2021)
Keywords: langerhans cell histiocytosis, vemurafenib, multisystem disease, newborn, target therapy
MeSH terms: Case Reports

Langerhans cell histiocytosis (LCH) is due to aberrant monoclonal proliferation and accumulation of dendritic cells, ranging from a self-limiting local condition to a rapidly progressive multisystem disease with poor prognosis. Pathogenic cells originate from a myeloid-derived precursor characterized by an activation of the MAPK/ERK signaling pathway in about 70% of cases. In particular, BRAF V600E mutation is usually associated with a more severe clinical course and poor response to chemotherapy. We report on a newborn with multisystem LCH in life-threatening medical conditions. At diagnosis, the patient was successfully treated with the early association of BRAF inhibitor Vemurafenib to standard chemotherapy representing a new approach in first-line treatment. A rapid clinical improvement with a prompt fever regression from day 2 and complete resolution of skin lesions by week 2 were observed; laboratory data normalized as well. Vemurafenib was discontinued after 12 months of treatment. No signs of relapse occurred after 12 months of discontinuation. This case indicates that early combination of target therapy with standard treatment may induce rapid response and prolonged disease remission without significant toxicities in infants. This approach represents a valid and safe option as first-line treatment in multisystem disease, especially in high-risk patients.
Case of Cardiac Arrest Treated with Extra-Corporeal Life Support after MDMA Intoxication
Authors: Pierre Voizeux, Romain Lewandowski, Theresa Daily, Omar Ellouze, Olivier Bouchot, Belaïd Bouhemad, Pierre-Grégoire Guinot
Journal: Case Rep Crit Care (2019)
MeSH terms: Case Reports

Objective:
To describe the case of a patient who developed a serotonin syndrome due to a 3,4-methylenedioxymethamphetamine ingestion with electrical storm and refractory cardiac arrest.
Design:
Case report.
Study selection:
ICU of a university hospital.
Patient:
A 22-year-old man transferred to the emergency room with hyperthermia, tremors, and mydriasis presented a cardiac arrest due to ventricular fibrillation.
Interventions:
We implemented extra-corporeal life support combined with vasoactive drugs. Later, he also benefited from renal replacement therapy and mechanical ventilation.
Measurements and main results:
We were able to rapidly regulate our patient's temperature and we weaned all hemodynamic support in the first week of hospitalisation.
Conclusion:
Extracorporeal life support has several advantages as part of the management of hemodynamic instability induced by serotonin syndrome.
Kidney and pancreatic extramedullary relapse in adult acute lymphoblastic leukemia: a case report and review of the literature
Authors: Leslie Skeith, Alejandro Lazo-Langner, Joy Mangel
Journal: Case Rep Hematol (2013)

Extramedullary relapse of acute lymphoblastic leukemia (ALL) is rare and has been primarily reported in pediatric patients or hematopoietic stem cell transplant recipients. We report a case of a 62-year-old woman who presented with relapsed ALL involving her kidneys, pancreas, and bone marrow 2 years after completing chemotherapy with a standard ALL protocol. Unfortunately, her extramedullary disease progressed despite treatment. To the best of our knowledge, this is the first reported case of extramedullary relapse of B-cell ALL to the kidneys and pancreas occurring in an adult patient who had not previously undergone a hematopoietic stem cell transplant. A literature review of kidney and pancreatic extramedullary relapse in ALL is also included.
Ischemic Colitis in Sickle Cell Disease: A Case Report of a Diagnostic Challenge
Authors: Kyle Geary, Jacob Kibrit
Journal: Case Rep Gastrointest Med (2018)
MeSH terms: Case Reports

Microvascular occlusion serves as the underlying mechanism for the multitude of clinical manifestations of sickle cell disease, one of the most prevalent hemoglobinopathies worldwide. Recurrent painful episodes are the hallmark of this condition. Abdominal pain attributed to an acute painful episode can be indistinguishable from a separate and/or more serious intra-abdominal disease process, representing a significant diagnostic dilemma for clinicians. Here we present a rare case of ischemic colitis due to vascular occlusion in a 28-year-old man with sickle cell disease.
An Interesting Case of Neurobrucellosis Mimicking Neuropsychiatric Lupus
Authors: Ramandeep Bains, Tamara Dahhan, Annie Belzowski, Emil R Heinze, Andrew L Wong, Philip J Clements
Journal: Case Rep Rheumatol (2018)
MeSH terms: Case Reports

This case describes a patient presenting with acute onset papilledema, subacute strokes resulting in upper extremity weakness and numbness, arthritis, maculopapular rash, depressed C4 and CH50, and a high titer anti-double-stranded DNA antibody. The patient was given the diagnosis of probable systemic lupus erythematosus, which was supported by the Systemic Lupus International Collaborating Clinics (SLICC) criteria. He was aggressively treated for neuropsychiatric lupus (NPSLE) with pulse dose steroids and a dose of intravenous cyclophosphamide. Blood cultures drawn on admission later grew out 2/4 bottles of Gram-variable bacteria, speciated as Brucella melitensis by PCR. Serum Brucella serologies were also positive. On further evaluation, the patient noted a history of eating unpasteurized cheese in Mexico. Given these additional findings, the patient's presentation was most consistent with a diagnosis of neurobrucellosis. Steroids were tapered off, no further doses of cyclophosphamide were given, and a prolonged course of intravenous and oral antibiotic therapy was administered, resulting in complete resolution of the patient's presenting symptoms.
Descemet's Stripping-Automated Endothelial Keratoplasty for Traumatic Aniridia and Aphakia
Authors: Sabah S Jastaneiah
Journal: Case Rep Ophthalmol Med (2012)
MeSH terms: Case Reports

This Interventional case reports a challenging case of descemet's stripping-automated endothelial keratoplasty (DSAEK) in a young male patient with traumatic aniridia, aphakia, and corneal edema. Surgery was planned in two stages; first was implantation of aniridia intraocular lens (AIOL), few months later, DSAEK procedure was performed. Successful outcome of both procedures was achieved as measured by the stability of the AIOL, clarity of the cornea, attachment of the lenticule, and improvement in vision. Aniridia implant supports a sufficient amount of air in the anterior chamber especially if the posterior segment is well formed, while providing the required lens power to improve vision. DSAEK procedure challenges that include iris defects and aphakia may be overcome by stepwise planning of the procedure.
Gastrointestinal stromal tumor of the stomach with lymph node metastasis treated by laparoscopic and endoscopic cooperative surgery with lymph node pick-up resection: A case report and literature review
Authors: Akira Kubota, Shirou Kuwabara, Kenzi Yamaguchi, Kazuaki Kobayashi, Hideki Hashidate
Journal: Int J Surg Case Rep (2020)
Keywords: case report, gastrointestinal stromal tumor, laparoscopy and endoscopic cooperative surgery, lymph node metastasis
MeSH terms: Case Reports

Introduction:
Gastrointestinal stromal tumor of the stomach with lymph node metastasis is a rare condition, and few cases have been treated by gastrectomy and systematic lymph node dissection.
Presentation of case:
We report the case of a patient who was treated by local resection with laparoscopic and endoscopic cooperative surgery and lymph node pick-up resection. A 73-year-old woman presented with gastric submucosal tumor and swollen lymph node. The submucosal tumor was 30 mm in size. After surgery, the tumor was confirmed to be a gastrointestinal stromal tumor by immunostaining. No recurrence was noted 36 months following the surgery.
Discussion:
Laparoscopic and endoscopic cooperative surgery allows minimal resection because the exact resection margin can be identified. Therefore, endoscopy is a useful aid in the treatment of gastric gastrointestinal stromal tumor. The MIB-1 index of metastatic lymph node was lower than that of a primary lesion; hence, the prognosis might not depend on lymph node metastasis.
Conclusion:
Laparoscopic and endoscopic cooperative surgery and lymph node pick-up resection were useful and minimally invasive. Systematic lymph node dissection is not a viable option.
Case report: What course to follow when left bundle branch pacing encounters acute myocardial infarction?
Authors: Xiaojiang Zhang, Yanzhuo Ma, Leisheng Ru, Dongmei Wang, Jie Li, Shuying Qi
Journal: Front Cardiovasc Med (2022)
Keywords: av block, acute myocardial infarction (ami), left bundle branch pacing (lbbp), pacemaker dysfunction, the pacing threshold
MeSH terms: Case Reports

Compared with traditional right ventricular apical pacing, His-bundle pacing (HBP) provides more physiologic pacing by activating the normal conduction system. However, HBP has some limitations including higher pacing thresholds. In addition, disease in the distal His-Purkinje system may prevent the correction of abnormal conduction. Left bundle branch pacing (LBBP) may overcome these disadvantages by providing lower pacing thresholds and relatively narrow QRS duration that improve cardiac function. Here, we describe a rare case of a transient loss of ventricular capture due to acute anterior wall myocardial infarction in an LBB-paced patient. With the improvement of the ischemia, the function of the pacemaker partly recovered. We review the adaptations, advantages, and limitations, and long-term safety of LBBP.
A Rare Case of Iatrogenic Diaphragm Defect following Laparoscopic Cholecystectomy Presented as Acute Respiratory Distress Syndrome
Authors: Konstantinos Bouchagier, Evangelos Solakis, Serafeim Klimopoulos, Theano Demesticha, Dimitrios Filippou, Panagiotis Skandalakis
Journal: Case Rep Surg (2018)
MeSH terms: Case Reports

Laparoscopic cholecystectomy is considered as the gold standard in the treatment of gallbladder disease. Laparoscopy presents significant advantages including decreased hospital stay, better aesthetic results, faster rehabilitation, less pain, reduced cost, and increased patient satisfaction. The complications' prevalence is low; however, the overall serious complication rate seems to be higher compared to open cholecystectomy, despite the increasing experience. Diaphragmatic injury following laparoscopic cholecystectomy is an extremely rare complication, and a high index of clinical suspicion is necessary to diagnose this situation that has a variety of clinical presentations and might be life-threatening. We present a unique case of postlaparoscopic cholecystectomy diaphragm defect with late onset. The clinical findings included those of respiratory distress syndrome along with small bowel incarceration and peritonitis.
Neuroinvasive Onchocerca lupi Infection in a Ten-Year-Old Girl
Authors: Dorothy Bowers Wu, Brandon Ko, Gloria Lopez Hernandez, James Botros, Heather Spader, Sarah Sapp, Yvonne Qvarnstrom, Christopher D Paddock, Paul T Cantey, Walter Dehority
Journal: Case Rep Infect Dis (2022)
MeSH terms: Case Reports

The nematode Onchocerca lupi is an emerging human pathogen. Though its life cycle is not well studied, it likely infects humans after a bite from a black fly vector, which in turn acquires infective microfilariae from an infected canid. These microfilariae mature into an infective larval stage within the fly. Among six reported cases in the United States, five involved children, and all occurred in the southwest. In this report, we present a case of O. lupi infection with cervical spine invasion in a healthy 10-year-old girl. She presented with five months of neurological symptoms from a rural and medically underserved area, highlighting a need for clinical vigilance in such settings for this emerging infectious threat in the American southwest.
Case Report: Infantile Urticaria as a Herald of Neonatal Onset Multisystem Inflammatory Disease With a Novel Mutation in NLRP3
Authors: Anna E Patrick, Eden M Lyons, Lisa Ishii, Alan S Boyd, Joseph M Choi, Anna K Dewan, Janet G Markle
Journal: Front Immunol (2021)
Keywords: il-1 pathway, nlrp3, nomid, urticaria, gene variant, inflammasome, monogenic diseases, pediatric autoinflammatory disease
MeSH terms: Cryopyrin-Associated Periodic Syndromes / diagnosis, Cryopyrin-Associated Periodic Syndromes / genetics, Mutation, NLR Family, Pyrin Domain-Containing 3 Protein / genetics, Phenotype, Urticaria / diagnosis, Urticaria / genetics, Case Reports, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't, Biomarkers, Biopsy, Child, Preschool, DNA Mutational Analysis, Female, Genetic Association Studies, Genetic Predisposition to Disease, Humans, Immunohistochemistry, Skin / pathology, Biomarkers, NLR Family, Pyrin Domain-Containing 3 Protein, NLRP3 protein, human

Neonatal multisystem onset inflammatory disorder (NOMID) is a severe autoinflammatory syndrome that can have an initial presentation as infantile urticaria. Thus, an immediate recognition of the clinical symptoms is essential for obtaining a genetic diagnosis and initiation of early therapies to prevent morbidity and mortality. Herein, we describe a neonate presenting with urticaria and systemic inflammation within hours after birth who developed arthropathy and neurologic findings. Pathologic evaluation of the skin revealed an infiltration of lymphocytes, eosinophils, and scattered neutrophils. Genetic analysis identified a novel heterozygous germline variant of unknown significance in the NLRP3 gene, causing the missense mutation M408T. Variants of unknown significance are common in genetic sequencing studies and are diagnostically challenging. Functional studies of the M408T variant demonstrated enhanced formation and activity of the NLRP3 inflammasome, with increased cleavage of the inflammatory cytokine IL-1β. Upon initiation of IL-1 pathway blockade, the infant had a robust response and improvement in clinical and laboratory findings. Our experimental data support that this novel variant in NLRP3 is causal for this infant's diagnosis of NOMID. Rapid assessment of infantile urticaria with biopsy and genetic diagnosis led to early recognition and targeted anti-cytokine therapy. This observation expands the NOMID-causing variants in NLRP3 and underscores the role of genetic sequencing in rapidly identifying and treating autoinflammatory disease in infants. In addition, these findings highlight the importance of establishing the functional impact of variants of unknown significance, and the impact this knowledge may have on therapeutic decision making.
Rapid progression to end-stage renal disease in a child with a sporadic ACTN4 mutation
Authors: Aadil K Kakajiwala, Kevin E Meyers, Tricia Bhatti, Bernard S Kaplan
Journal: Clin Nephrol Case Stud (2015)
Keywords: actn4 gene mutation, end-stage renal disease, focal segmental glomerulosclerosis
MeSH terms: Case Reports

Mutations of ACTN4 cause an autosomal dominant form of focal segmental glomerulosclerosis (FSGS). Presentation usually occurs in the teenage years or later with symptoms of mild proteinuria and slowly progressive renal dysfunction leading to end-stage renal disease (ESRD). We report a 5-year-old female patient who was diagnosed with nephrotic syndrome and did not respond to 6 weeks of oral glucocorticoid therapy. Renal biopsy showed a collapsing variant of FSGS and genetic studies revealed a heterozygous disease-causing mutation in the ACTN4 gene (c.784C>T, p.Ser262Phe). No mutations were found in the NPHS2, TRPC6, and INF2 genes, nor did her parents have any mutations for FSGS. She developed ESRD 6 months after presentation. Although a disease-causing ACTN4 mutation was identified, the contribution of additional polymorphisms in other genes is not known. Such additional polymorphisms may represent yet unidentified epigenetic factors that contributed to the aggressive nature of this child's disease progression. A literature review has revealed only two similar case reports.
Case Report: Posterior Reversible Leukoencephalopathy Syndrome (PRES) as a Biologically Predictable Neurological Association in Severe COVID-19. First Reported Case From Australia and Review of Internationally Published Cases
Authors: Tissa Wijeratne, Chanith Wijeratne, Leila Karimi, Carmela Sales, Sheila Gillard Crewther
Journal: Front Neurol (2021)
Keywords: covid-19, sars-cov-2, case report, hypertension, posterior reversible encephalopathy syndrome (pres)
MeSH terms: Case Reports

Reports of different types of neurological manifestations of COVID-19 are rapidly increasing, including changes of posterior reversible leukoencephalopathy syndrome (PRES). Here we describe the first reported case of COVID-19 and PRES in Australia diagnosed on basis of MRI brain imaging and confirmed clinically by presence of confusion, delirium, headaches, also associated with hypertension and blood pressure variability and stable long-term kidney problems. He made full recovery as his blood pressure was controlled and clinical status was supported with appropriate supportive therapy. Although traditionally a rare condition, PRES is likely to be more common among patients with COVID-19 pathobiology there is Renin downregulation of ACE2 receptors, involvement of Renin-Angiotensin-Aldosterone system, endotheliitis, cytokine storm, and hyper-immune response. Thus we advocate clinical suspicion and early brain imaging with MRI brain among vulnerable patients with known co-morbidities, and diagnosed with COVID-19 given that hypertension and blood pressure variability are often exacerbated by acute SARS-CoV-2 immune reactions. Such acute hypertensive encephalopathy was able to be reversed with timely supportive therapy ensuring re-hydration and re-establishment of blood pressure control.