OpenMed/multicare-articles huggingface dataset:
Autoimmune glial fibrillary acidic protein astrocytopathy coexistent with reversible splenial lesion syndrome: A case report and literature review
Authors: Jing Lin, Liangbin Dong, Li Yu, Jingwei Huang
Journal: Front Neurol (2023)
Keywords: autoimmune glial fibrillary acidic protein astrocytopathy, leptomeningeal enhancement, linear perivascular radial enhancement, magnetic resonance imaging, reversible splenial lesion syndrome (resles)
MeSH terms: Case Reports

Autoimmune glial fibrillary acidic protein (GFAP) astrocytopathy is a rare autoimmune disorder. Reversible splenial lesion syndrome (RESLES) is a transient clinical-imaging syndrome characterized by specific magnetic resonance imaging (MRI) pattern. A 58-year-old man was admitted with a fever, headache, and confusion for 1 week. Brain MRI showed abnormal leptomeningeal enhancement in the brainstem and high signal intensity on diffusion-weighted MRI of the corpus callosum. Anti-GFAP antibody was positive in the serum and cerebrospinal fluid analysis. This patient significantly improved and had no relapse after glucocorticoid and immune suppressant therapy. A repeated brain MRI revealed the lesion in the corpus callosum and abnormal leptomeningeal enhancement in the brainstem disappeared. Linear perivascular radial enhancement is the characteristic pattern of autoimmune GFAP astrocytopathy which is rarely coexistent with RESLES.
Lactate Gap: A Diagnostic Support in Severe Metabolic Acidosis of Unknown Origin
Authors: Linn E Hauvik, Mercy Varghese, Erik W Nielsen
Journal: Case Rep Med (2018)
MeSH terms: Case Reports

Ethylene glycol poisoning is a medical emergency. The metabolites glycolate and glyoxylate give metabolic acidosis. Because of similar structure, these metabolites are misinterpreted as lactate by many point-of-care blood gas analyzers. The falsely high lactate values can lead to misdiagnosis, inappropriate laparotomies, and delayed antidotal therapy. As laboratory analyzers measure plasma lactate only, the difference or the "lactate gap" aids in early diagnosis. We present a patient with severe metabolic acidosis and elevated lactate levels on the point-of-care analyzer. A lactate gap supported the diagnosis of ethylene glycol poisoning. Hemodialysis and fomepizole treatment could be started immediately.
Severe Drug-Induced Liver Injury from Combination Encorafenib/Binimetinib
Authors: Nicholas Gravbrot, Srinath Sundararajan
Journal: Case Rep Oncol Med (2019)
MeSH terms: Case Reports

Encorafenib/binimetinib is a new combination BRAF/MEK inhibitor used in the treatment of advanced or metastatic BRAFV600-mutant melanoma. Though generally tolerated well, mild to moderate aminotransferase elevations are common. However, significant liver injury has not been demonstrated in the literature. Here, we report the first case of severe hepatic injury associated with encorafenib/binimetinib in a 58-year-old gentleman requiring admission and extensive workup. He was successfully treated by withdrawing the combination therapy, and liver function returned to normal range.
Hepatotoxicity due to chenodeoxycholic acid supplementation in an infant with cerebrotendinous xanthomatosis: implications for treatment
Authors: Hidde H Huidekoper, Frédéric M Vaz, Aad Verrips, Annet M Bosch
Journal: Eur J Pediatr (2016)
Keywords: cerebrotendinous xanthomatosis, chenodeoxycholic acid, hepatotoxicity, infant, newborn screening, treatment
MeSH terms: Chemical and Drug Induced Liver Injury / etiology, Chenodeoxycholic Acid / adverse effects, Xanthomatosis, Cerebrotendinous / complications, Case Reports, Chenodeoxycholic Acid / administration & dosage, Child, Preschool, Encephalitis, Viral, Female, Humans, Infant, Newborn, Neonatal Screening, Parechovirus, Picornaviridae Infections / complications, Xanthomatosis, Cerebrotendinous / etiology, Xanthomatosis, Cerebrotendinous / metabolism, Chenodeoxycholic Acid

We present a two-week old girl who was diagnosed with cerebrotendinous xanthomatosis (CTX), an inborn error of bile acid synthesis, after a diagnostic workup for convulsions which were shown to be caused by a parechovirus encephalitis. The diagnosis of CTX was confirmed with CYP27A1 mutation analysis. She was started on chenodeoxycholic acid (CDCA) supplementation, which inhibits cholestanol production through a feedback mechanism, at the advised dosage of 15 mg/kg/day. Within 6 weeks, she developed jaundice with hepatomegaly. CDCA supplementation was stopped after which liver size and function rapidly normalised. CDCA supplementation was then restarted and maintained at 5 mg/kg/day. Cholestanol, liver enzymes and total bilirubin were frequently monitored in the patient, who is now 2.8 years of age, and have remained within normal range. Her psychomotor development has been normal.
Conclusion:
adequate metabolic control was achieved in an infant with CTX with CDCA supplementation at a dosage of 5 mg/kg/day and was well tolerated. CDCA supplementation at 15 mg/kg/day seems hepatotoxic in infants and should not be used. This is relevant in view of the possible inclusion of CTX in newborn screening programs in the near future.
What is known:
Cerebrotendinous xanthomatosis (CTX), an inborn error of bile acid synthesis, is a progressive neurological disorder. Symptoms of CTX can be halted, and likely prevented, with chenodeoxycholic acid (CDCA) supplementation, making CTX a good candidate for newborn screening. What is New: CDCA supplementation at the advised dosage of 15 mg/kg/day in children seems hepatoxic in infants with CTX. Adequate metabolic control in an infant with CTX was achieved with CDCA supplementation at 5 mg/kg/day and well tolerated.
Anaphylaxis as a Rare Side Effect of Ketorolac; a Case Report
Authors: Hesam Yousefi, Ali Sahebi, Mahtab Farahani, Mohamad Golitaleb
Journal: Arch Acad Emerg Med (2020)
Keywords: adverse drug reaction, anaphylaxis, drug hypersensitivity syndrome, nsaids, ketorolac
MeSH terms: Case Reports

Anaphylaxis is a life-threatening systemic allergic hypersensitivity reaction that may potentially be triggered after the administration of any drug. Our case was a 51-year-old man with the history of mild pain in his flanks since the night before he was admitted to our hospital. The patient was diagnosed with urolithiasis and admitted to the emergency department. He developed anaphylaxis after intravenous injection of 30 mg ketorolac. Allergic reactions to non-steroidal anti-inflammatory drugs (NSAIDs) such as ketorolac are rare; nonetheless, they can be life-threatening and should be carefully monitored.
Case report: Acinetobacter baumannii septic arthritis in an immunocompetent infant
Authors: Yi Liao, Jiapeng Xiao, Feng Fang, Hua Zhou, Lingling Liu, Xinglou Liu
Journal: Front Med (Lausanne) (2023)
Keywords: acinetobacter baumannii, case report, infant, metagenomics next-generation sequencing, septic arthritis
MeSH terms: Case Reports

Acinetobacter baumannii is a gram-negative coccobacilli, mainly causing nosocomial infections with poor prognosis, especially in patients with prolonged hospitalization or antibiotics administration. A. baumannii pneumonia is the most common clinical form and usually occurs in critically ill patients in the intensive care unit. However, septic arthritis caused by A. baumannii is rarely reported. In this report, we describe a case of A. baumannii septic arthritis combined with incomplete Kawasaki disease in an infant. The child's chief complaint was a 2-week intermittent fever with poor response to antibiotics. Initial physical examination revealed swollen lymph nodes in the neck, pharynx congestion, and the appearance of rashes. Combined with laboratory tests, the diagnosis of incomplete Kawasaki disease was considered. After administration of high-dose intravenous immunoglobulin and corticosteroids, the child's fever improved and periungual desquamation appeared simultaneously. Swelling of the right knee occurred 5 days after the fever improved and imaging tests of MRI and ultrasound suggested the existence of infection. A diagnosis of septic arthritis was established subsequently, and arthroscopy was carried out. A. baumannii was finally identified by metagenomics next-generation sequencing of joint draining fluid for pathogenic microorganisms. Treatment with meropenem was then started. The patient eventually recovered and was discharged from the hospital after 23 days of treatment with meropenem. Although A. baumannii is not a common bacterium of septic arthritis, this rare infection can still occur in infants. Early diagnosis, pathogenic identification, and target antibiotic treatment are important to reduce the occurrence of joint sequelae.
Case Report: Challenging Perioperative Decision-Making in a Neonate With Transposition of Great Arteries and Novel Coronary Anatomy
Authors: Madhuradhar Chegondi, Marco Ricci, Ravi C Ashwath
Journal: Front Pediatr (2022)
Keywords: commissural malalignment, coronary artery pattern, intramural course, neonate, novel, perioperitave decision, transposition of great arteries (tga)
MeSH terms: Case Reports

Transposition of great arteries (d-TGA) is often associated with various coronary artery (CA) patterns. These anomalous patterns can cause variable clinical symptoms of coronary ischemia including sudden death. CA pattern is one of the major determinants of outcome in TGA postoperatively. An advanced cardiac imaging and a multidisciplinary care approach are essential for a favorable outcome. Here, we describe a novel CA origin pattern in a neonate with d-TGA, who developed myocardial ischemia and required a coronary unroofing procedure for a full recovery.
Gain-of-Function STAT1 Mutation With Familial Lymphadenopathy and Hodgkin Lymphoma
Authors: Sarah E Henrickson, Joseph G Dolan, Lisa R Forbes, Alexander Vargas-Hernández, Shiho Nishimura, Satoshi Okada, Leslie S Kersun, Garrett M Brodeur, Jennifer R Heimall
Journal: Front Pediatr (2019)
Keywords: hodgkin lymphoma, stat1, gain-of-function, human immunology, primary immunodeficiency
MeSH terms: Case Reports

In this report, we describe a novel T437N STAT1 mutation found in a mother and 3 of her 4 children which we demonstrate yields gain-of-function. All of the four patients with the T437N STAT1 mutation experienced lymphadenopathy. However, two of the children developed Nodular Lymphocyte Predominant Hodgkin Lymphoma (NHLPL) and have responded to chemotherapeutic regimens. The fourth sibling had neither the STAT1 variant nor lymphadenopathy or malignancy. To our knowledge this is the first description of a potential association between STAT1 GOF mutations and lymphoma development.
Irreducible Posterior Fracture Dislocation of the Shoulder: A Case Report
Authors: Otmane Sammouni, Saber Zari, Najib Abdeljaouad, Hicham Yacoubi
Journal: Cureus (2023)
Keywords: complex, posterior fracture-dislocation, rare, shoulder, surgical treatment
MeSH terms: Case Reports

Posterior shoulder fracture-dislocation is a rare traumatic entity. Early diagnosis results in the adequate treatment of these lesions and prevents serious complications, such as avascular necrosis. Several therapeutic options have been proposed depending on the size of the humeral defect, duration of the dislocation, age of the patient, associated comorbidities, and functional requirements. For this kind of injury, early open anatomical reduction and stable internal fixation remain the optimum treatment option. Arthroplasty is often the last resort for active young patients, particularly in cases of avascular necrosis, humeral head complex fracture, or undiagnosed posterior shoulder dislocation. Here, we report a case of a complex posterior shoulder fracture-dislocation in a young man, which was treated surgically with open reduction and locked plate osteosynthesis using a deltopectoral approach.
Effort, symptom validity testing, performance validity testing and traumatic brain injury
Authors: Erin D Bigler
Journal: Brain Inj (2014)
Keywords: effort testing, neuropsychological assessment, performance validity testing, symptom validity testing, traumatic brain injury
MeSH terms: Brain Injuries / diagnosis, Malingering / diagnosis, Memory Disorders / diagnosis, Mental Disorders / diagnosis, Neuropsychological Tests, Psychomotor Performance, Review, Validation Study, Brain Injuries / complications, Brain Injuries / psychology, Disability Evaluation, Humans, Malingering / psychology, Memory Disorders / etiology, Mental Disorders / etiology, Neuroimaging, Reproducibility of Results

Background:
To understand the neurocognitive effects of brain injury, valid neuropsychological test findings are paramount.
Review:
This review examines the research on what has been referred to a symptom validity testing (SVT). Above a designated cut-score signifies a 'passing' SVT performance which is likely the best indicator of valid neuropsychological test findings. Likewise, substantially below cut-point performance that nears chance or is at chance signifies invalid test performance. Significantly below chance is the sine qua non neuropsychological indicator for malingering. However, the interpretative problems with SVT performance below the cut-point yet far above chance are substantial, as pointed out in this review. This intermediate, border-zone performance on SVT measures is where substantial interpretative challenges exist. Case studies are used to highlight the many areas where additional research is needed. Historical perspectives are reviewed along with the neurobiology of effort. Reasons why performance validity testing (PVT) may be better than the SVT term are reviewed.
Conclusions:
Advances in neuroimaging techniques may be key in better understanding the meaning of border zone SVT failure. The review demonstrates the problems with rigidity in interpretation with established cut-scores. A better understanding of how certain types of neurological, neuropsychiatric and/or even test conditions may affect SVT performance is needed.
Dramatic Therapeutic Response to Dabrafenib Plus Trametinib in BRAF V600E Mutated Papillary Craniopharyngiomas: A Case Report and Literature Review
Authors: Morena Fasano, Carminia Maria Della Corte, Marianna Caterino, Mario Pirozzi, Raffaele Rauso, Teresa Troiani, Giulia Martini, Stefania Napolitano, Floriana Morgillo, Fortunato Ciardiello
Journal: Front Med (Lausanne) (2022)
Keywords: braf, braf mutation v600e, craniopharyngioma, dabrafenib, oncogenic driver, targeted, trametinib
MeSH terms: Review

Background:
Craniopharyngioma is a rare intracranial tumor, with a high morbidity rate due to its common refractiveness to conventional treatments. BRAF V600E mutation has recently been identified as the principal oncogenic molecular driver of papillary craniopharyngiomas (PCP), one of the two main variants of craniopharyngioma.
Case presentation:
A 49-year-old man with recurrent craniopharyngioma, harboring BRAF V600E mutation, has been treated with targeted therapy based on a combination of a BRAF-inhibitor, dabrafenib (150 mg, orally two times daily), and a MEK-inhibitor, trametinib (2 mg, orally two times daily). Before starting treatment, the patient was symptomatic: he lamented confusion, dysphasia, and intense fatigue, that did not allow him to work normally. After just one cycle of treatment, the patient showed an important clinical improvement, reporting a progressive regression of the basal symptoms, hinting at a rapid and dramatic response, which was confirmed at the first radiological assessment. Thus, treatment was continued and at the time of writing, the treatment is still ongoing (total duration of treatment: 14 months) and it is well tolerated, with very good quality of life: the patient has no limitations in daily activities and he has even been able to restart to work.
Conclusion:
The use of targeted therapies-as a clinical practice or in clinical trials-represents an important therapeutic alternative and a great evolution for patients' prognosis vs. the standard of care, historically represented by unselected chemotherapies. The discovery of the BRAF V600E mutation in patients with PCP is very rare, resulting in a lack of data on the efficacy of the combination of dabrafenib and trametinib.
Severe Maternal Morbidity Associated with Systemic Lupus Erythematosus Flare in the Second Trimester of Pregnancy
Authors: Matthew J Blitz, Adiel Fleischer
Journal: Case Rep Obstet Gynecol (2018)
MeSH terms: Case Reports

Pregnancy in women with systemic lupus erythematosus (SLE) is associated with an increased risk of adverse maternal and fetal outcomes. Here, we present a case of severe maternal morbidity in a 23-year-old primigravida with SLE and secondary Sjögren's syndrome who experienced a life-threatening multisystem flare at 17 weeks of gestational age. She presented to the emergency department complaining of cough with hemoptysis and shortness of breath. She developed hypoxic respiratory failure and was admitted to the intensive care unit. Bronchoscopy confirmed diffuse alveolar hemorrhage. Physical exam and laboratory evaluation were consistent with an active SLE flare, pancytopenia, and new-onset lupus nephritis. After counseling regarding disease severity, poor prognosis, and recommendation for therapy with cytotoxic agents, she agreed to interruption of pregnancy which was achieved by medical induction. Her course was further complicated by thrombotic microangiopathy and generalized tonic-clonic seizures attributable to posterior reversible encephalopathy syndrome versus neuropsychiatric SLE. This case represents one of the most extreme manifestations of lupus disease activity associated with pregnancy that has been reported in the literature and emphasizes the importance of preconception evaluation and counseling and a multidisciplinary management approach in cases with a complex and evolving clinical course.
Central Nervous System Involvement by Waldenstrom Macroglobulinemia: A Case Report of the Bing-Neel Syndrome
Authors: Ananth Arjunan, Hema Rai
Journal: Case Rep Hematol (2019)
MeSH terms: Case Reports

Bing-Neel syndrome (BNS) is a rare complication of Waldenstrom macroglobulinemia (WM) defined by a lymphoplasmacytic infiltration of the central nervous system (CNS). Patients present with a range of neurologic symptoms of variable severity. Diagnosis requires a low threshold of suspicion and is considered in WM patients with unexplained neurologic symptoms. It can occur in the presence of quiescent serum markers of WM. Direct CNS tissue biopsy should be pursued if feasible and remains the gold standard for diagnosis. No standard of care treatment exists, but expert guidelines suggest intravenous chemotherapy in standard dose or high-dose regimens or use of oral ibrutinib. Consideration is also made for intravenous rituximab, intrathecal therapies, and autologous stem cell transplantation. Patient factors and tolerability should drive decisions regarding treatment choice in this arena, given a lack of data for standard frontline therapy.
Healing of large endodontic lesions using a new combination of triple antibiotics: A case report
Authors: Saeed Asgary, Ardavan Parhizkar
Journal: Clin Case Rep (2023)
Keywords: antibiotics, endodontics, large lesions, treatment outcome
MeSH terms: Case Reports

In the case report presented, three cases of large endodontic lesions, which were the consequences of endodontic treatment failure, were studied. In all cases, a novel combination of triple antibiotics was used to successfully manage and heal the lesions, showing the promising potential of the antibiotic combination in resolving pathosis.
Paroxysmal nonkinesigenic dyskinesia with tremor
Authors: Robert Fekete
Journal: Case Rep Neurol Med (2013)

Introduction. Paroxysmal nonkinesigenic dyskinesia (PNKD) consists of episodes of chorea, athetosis, or dystonia which are not triggered by movement, with complete remission between episodes. A case of genetically confirmed PNKD with simultaneous tremor has not been previously reported. Case Report. The patient is an 86-year-old right-handed female who presented with episodic stiffness, with onset at age 9. Attacks have a prodrome of difficulty in speaking, followed by abnormal sensation in extremities. Episodes consist of dystonia of trunk associated with upper and lower extremity chorea. There is complete resolution between attacks except for persistent mild head tremor and action tremor of both extremities. Attack frequency and duration as well as tremor amplitude escalated two and a half years ago, in correlation with development of breast carcinoma. Episodes improved after successful cancer treatment, but higher amplitude tremor persisted. There is an autosomal dominant family history of similar episodes but not tremor. Genetic diagnosis was confirmed via A7V mutation of the myofibrillogenesis regulator (MR-1) gene. Conclusion. Exacerbation due to another medical or psychiatric condition should be considered if there is unexpected deterioration in episode frequency or length. PNKD due to MR-1 mutation may exist even in the presence of action tremor.
Case Report: The First Report on Moraxella canis Isolation From Corneal Ulcer in a Bulldog
Authors: Zhihao Wang, Long Guo, Jun Li, Jianji Li, Luying Cui, Junsheng Dong, Heng Wang
Journal: Front Vet Sci (2022)
Keywords: moraxella canis, conjunctival bridge flap, corneal ulcer, drug resistance, isolation
MeSH terms: Case Reports

A 5-year-old castrated male bulldog was diagnosed with a corneal ulcer accompanied by edema and conjunctival hyperemia. Ophthalmic examination and microbiological analysis were performed, and the bacteria were found to be gram-negative and globular. The isolated clone was identified as Moraxella canis (MZ579539) via MALDI-TOF MS and 16S rDNA sequencing. Antimicrobial susceptibility testing showed that the bacteria were sensitive to tetracycline and chloramphenicol, but resistant to levofloxacin and ciprofloxacin. After a conjunctival flap was placed, tobramycin ophthalmic solution and 5% sodium hyaluronate were administered. Following surgery, the ulcer was effectively controlled, and after 3 weeks, the cornea healed. This is the first case report of a canine corneal ulcer associated with M. canis, which should be considered when corneal ulceration or keratitis were suspected.
Primary Neuroendocrine Tumor of the Parotid Gland: A Case Report and a Comprehensive Review of a Rare Entity
Authors: Olga Martínez-Sáez, Javier Molina-Cerrillo, Carmen Moreno García Del Real, Rafael Barberá Durban, Juan J Díez, Teresa Alonso-Gordoa, Enrique Grande Pulido
Journal: Case Rep Otolaryngol (2016)

Neuroendocrine tumors (NETs) comprise a heterogeneous group of malignancies from cells derived from the neural crest with neuroendocrine differentiation. Despite the differences in the site of origin, nomenclature, biological behavior, and functional status, NETs share certain ultrastructural and immunohistochemical features. NETs are relative rare tumors with an annual incidence of 5.76 new cases per 100.000 inhabitants and they usually appear in the gastrointestinal tract or in the pulmonary system. Head and neck NETs are uncommon with limited information regarding frequency, most of them showing small cell carcinoma features. NETs that arise from the salivary glands are exceedingly rare. Regardless of their low frequency, it is imperative to accurately differentiate these tumors from the much more common squamous cell carcinomas and from metastasis from another primary tumor due to the completely different therapeutic approaches and prognosis. The diagnosis is based on the recognition of the typical neuroendocrine architecture and immunohistochemical staining and on an exhaustive work-up. Hereby, we report a case of a moderately differentiated NET of the parotid gland that was treated with a complete parotidectomy. We summarize the clues that led to the final diagnosis and major strategies that were employed to manage the patient. We also perform a comprehensive review of the scarce available literature on this topic.