OpenMed/multicare-articles huggingface dataset:
Superior vena cava syndrome revealing a Behçet's disease
Authors: Simon Antoine Sarr, Pape Diadie Fall, Mouhamadou Chérif Mboup, Khadidiatou Dia, Malick Bodian, Modou Jobe
Journal: Thromb J (2015)
Keywords: behçet, dakar, superior vena cava syndrome, thrombosis

Introduction:
Behçet's disease (BD) is a rare vasculitis in sub-Saharan Africa. Vascular thrombosis, especially venous, is common in this condition and also constitutes a basic diagnostic criterion. Its affection of the superior vena cava is rather rare with only a few cases described in the literature.
Case report:
A 42-year-old male patient was seen at consultation presenting with a pulsatile, warm and slightly painful right latero-cervical swelling extending to the supraclavicular fossa with the presence of collateral venous circulation for three weeks prior to presentation associated with a mild headache. There were oral and genital ulcerations and erythematous skin lesions associated with a history of inflammatory recurrent arthralgia. Chest computed tomo-angiography showed cruoric internal jugular vein thrombosis extending to the superior vena cava with significant venous collateral circulation. The patient was treated with prednisolone (1 mg/kg/day) and colchicine (2 mg/day), as well as anticoagulation with heparin and vitamin K antagonist (Acenocoumarol) with regular INR monitoring. Clinical evolution was favorable during hospitalization, with residual discrete right supraclavicular swelling. There was no bleeding associated with anticoagulants use.
Conclusion:
The case stresses the importance of maintaining a high degree of suspicion for Behçet's disease in all cases of venous thrombosis.
A peripheral ameloblastic fibro-odontoma in a 3-year-old girl: case report, immunohistochemical analysis, and literature review
Authors: Yi-Chun Lin, Hsiu-Ming Hsu, Chiang-Shin Liu, Kuo Yuan
Journal: Case Rep Dent (2014)

Ameloblastic fibro-odontoma (AFO) predominantly occurs in the jaw bones of children and young adults. Extraosseous AFO is extremely rare. We describe a peripheral ameloblastic fibro-odontoma in the maxillary gingiva of a 3-year-old girl. The clinical appearance resembled fiery red reactive gingival lesions. The histopathological examination of the excised lesion showed small islands and cords of odontogenic epithelium with cellular myxoid stroma in the subepithelial tissue. The mass contained calcified material and an enamel-like deposit. Many small blood vessels appeared in the connective tissue surrounding the odontogenic epithelium. The immunohistochemical assays showed strong reactivity for amelogenin, β-catenin, CD44, and CD31 in the tissue sections. There was no recurrence after the 1-year follow-up. Because this lesion clinically resembles other nonneoplastic lesions and is very rare in gingiva, establishing a correct diagnosis is achieved only based on specific histological characteristics. Conservative excision of the tumor is the treatment of choice.
Drug reaction with eosinophilia and systemic symptoms syndrome in a patient taking phenytoin and levetiracetam: a case report
Authors: David Jeffrey Hall, Jason Steven Fromm
Journal: J Med Case Rep (2013)

Introduction:
Drug reaction with eosinophilia and systemic symptoms syndrome is a potentially life-threatening hypersensitivity reaction with rash, fever, and internal organ involvement, often hepatitis, occurring most commonly two to eight weeks after initiation of a medication. The present case is an example of severe and potentially life-threatening hepatitis as a manifestation of drug reaction with eosinophilia and systemic symptoms syndrome.
Case presentation:
We report a case of anti-epileptic-induced drug reaction with eosinophilia and systemic symptoms syndrome in an 18-year-old African-American man who presented with a five-day history of rash, periorbital and upper extremity edema, hepatitis and fever. Laboratory findings revealed an atypical lymphocytosis, eosinophilia, and elevated serum transaminases. No drug allergies were reported at the time of presentation, but phenytoin and levetiracetam therapy had been initiated five weeks prior to hospital admission for new-onset seizures. Both medications were discontinued on hospital admission, and after three days of high-dose corticosteroid therapy the patient experienced resolution of both his symptoms and laboratory markers of inflammation.
Conclusion:
Given the significant mortality attributed to drug reaction with eosinophilia and systemic symptoms syndrome, medical personnel should be aware of the potential for this severe hypersensitivity reaction and should ensure close follow-up and offer anticipatory guidance when beginning any new medication, particularly anti-epileptic therapy. Early recognition of drug reaction with eosinophilia and systemic symptoms syndrome and initiation of appropriate therapy are imperative in limiting morbidity.
Unexpected curative effect of PD-1 inhibitor in gastric cancer with brain metastasis: A case report
Authors: Qijun Wang, Zhewei Shen, Mengxi Ge, Jie Xu, Xin Zhang, Wei Zhu, Jie Liu, Wei Hua, Ying Mao
Journal: Front Oncol (2023)
Keywords: pd-1 inhibitors, pd-1/pd-l1, brain metastasis, gastric cancer, immunotherapy
MeSH terms: Case Reports

Background:
Gastric cancer (GC) is the third most common cause of cancer-related death in the world. Several clinical trials have proven that the use of PD-1/PD-L1 inhibitors can improve the survival of late-stage GC patients and is suggested in NCCN and CSCO guidelines. However, the correlation between PD-L1 expression and the response to PD-1/PD-L1 inhibitors is still controversial. GC rarely develops brain metastasis (BrM) and currently there is no therapeutic protocol for GC BrMs.
Case presentation:
We report a case of a 46-year-old male suffering from GC with PD-L1 negative BrMs 12 years after GC resection and 5 cycles of chemotherapy. We treated the patient with the immune checkpoint inhibitor (ICI) pembrolizumab and all metastatic tumors achieved a complete response (CR). A durable remission of the tumors is confirmed after 4 years of follow-up.
Conclusion:
We shared a rare case with PD-L1 negative GC BrM responsive to PD-1/PD-L1 inhibitors, the mechanism of which is still unclear. The protocol of therapeutic choice for late-stage GC with BrM is urgently needed. And we are expecting biomarkers other than PD-L1 expressions to predict the efficacy of ICI treatment.
Anomalous origin of the left coronary artery from the pulmonary artery in infancy with preserved left ventricular function: Potential pitfalls and clues to diagnosis
Authors: Renu P Kurup, Rachel Daniel, Raman Krishna Kumar
Journal: Ann Pediatr Cardiol (2008)
Keywords: cardiac failure, echocardiography, infants, left ventricular dysfunction
MeSH terms: Case Reports

Left ventricular dysfunction is almost invariably associated with anomalous origin of the left coronary artery from pulmonary artery (ALCAPA) that presents during infancy. We report three cases of infants who presented with ALCAPA with relatively well-preserved left ventricular systolic function with a view to illustrate the mechanisms that help maintain left coronary perfusion and discuss the specific echocardiographic clues that suggest diagnosis in these circumstances.
A giant lymphatic cyst of the transverse colon mesentery
Authors: Tayyaba Batool, Soofia Ahmed, Jamshed Akhtar
Journal: APSP J Case Rep (2010)
Keywords: abdominal mass, lymphatic cyst, lymphatic malformation, mesenteric cyst
MeSH terms: Case Reports

Mesenteric cysts are not uncommon in pediatric age group but giant lymphatic cysts of mesentery are reported infrequently. This is a report of six years old female who had vague abdominal pain with distension for two years. Investigations revealed a large cystic mass in abdomen. On exploration a giant lymphatic cyst in the mesentery of transverse colon found. More than 1500 ml of milky fluid was drained. The cyst was unilocular and appeared to be the collection of lymph (chyle) between two leaves of the mesentery of transverse colon. It is postulated that trauma to or malformation of lymphatics at the root of mesentery might have lead to this pathology.
New-Onset Diabetes with Ketoacidosis Precipitated by COVID-19 in Children: A Report of Two Cases
Authors: Nabila Chekhlabi, Amal Haoudar, Nadia Echcharii, Said Ettair, Nezha Dini
Journal: Case Rep Pediatr (2021)
MeSH terms: Case Reports

Background and aims:
There is growing evidence that the 2019 coronavirus disease (COVID-19) is emerging as a potential trigger virus for the development of diabetes mellitus in children. This can occur even in patients without factors predisposing to impaired glucose metabolism. Here, we report two rare cases of diabetic ketoacidosis revealing new-onset diabetes and precipitated by COVID-19. These cases are reported in view of their rarity and originality. The relationship between type 1 diabetes mellitus and COVID-19 is discussed.
Results:
Two children developed symptoms suggestive of diabetic ketoacidosis preceded by polyuria, polydipsia, and asbestos. There is a documented COVID-19 infection in the parents of the 2 children. An asymptomatic infection was detected in the 2 patients on the basis of a reverse transcription polymerase chain reaction (RT-PCR) test. Thoracic imaging and inflammatory workup were negative in both cases. Both patients responded well to treatment, including rehydration regimens and intravenous insulin. On the 2nd day of their hospitalization, they were transferred to several injections of subcutaneous insulin with therapeutic and nutritional education from the parents. After about 4 weeks, their insulin requirements probably decreased due to the diabetes honeymoon.
Conclusion:
COVID-19 can induce acute onset diabetes and diabetic ketoacidosis in children. More research data are needed to improve our knowledge of this constellation and to guide the most appropriate therapies.
Focal nodular hyperplasia in a 14-year-old child: A case report
Authors: Farzan Vahedifard, Masoud Mortezazadeh, Abbas Mofidi, Mehdi Kashani, Alireza Sharifi Rayeni
Journal: Caspian J Intern Med (2021)
Keywords: benign liver tumors, child, conservative management, focal nodular hyperplasia
MeSH terms: Case Reports

Background:
Focal nodular hyperplasia (FNH) is a benign rare liver neoplasm in children and includes only 2% of all pediatric liver tumors. Here we reported the case of a 14-year-old girl with vague flank pain who was managed conservatively.
Case presentation:
Our case is a 14-year-old child (female), with a 5 cm diameter lesion in the right lobe of the liver in CT scan, and histologic findings compatible with FNH. A solid mass lobulated contour, intense enhancement with a hypodense central area, possibly indicative of central scar, was seen. Despite her mild flank pain we did not insist on surgical resection and managed her conservatively. Her pain resolved 2 weeks later and an imaging follow-up with ultrasound 6 months later showed no increase in size or numbers.
Conclusion:
FNH is an uncommon mass lesion in children. Our patient had mild symptomatic severity, and several guidelines recommend surgical treatment in this condition, but our team performed conservative and medical treatment for her and got the desired result. Therefore, the combination of these factors raises the importance of introducing the case. According to FNH's nature, stability, complications, and evaluation of pain are essential to avoid unnecessary surgeries.
Interstitial nephritis in melanoma patients secondary to PD-1 checkpoint inhibitor
Authors: Julia Escandon, Stephanie Peacock, Asaad Trabolsi, David B Thomas, Ayman Layka, Jose Lutzky
Journal: J Immunother Cancer (2017)
Keywords: immune checkpoint inhibitor, interstitial nephritis, nivolumab, pd-1 ligand (pd-l1), pembrolizumab, programed death 1 receptor (pd-1)
MeSH terms: Inflammation / drug therapy, Melanoma / drug therapy, Nephritis, Interstitial / drug therapy, Programmed Cell Death 1 Receptor / immunology, Case Reports, Aged, Antibodies, Monoclonal / administration & dosage, Antibodies, Monoclonal / adverse effects, Antibodies, Monoclonal, Humanized / administration & dosage, Antibodies, Monoclonal, Humanized / adverse effects, Antineoplastic Combined Chemotherapy Protocols / administration & dosage, Antineoplastic Combined Chemotherapy Protocols / adverse effects, Drug-Related Side Effects and Adverse Reactions / immunology, Drug-Related Side Effects and Adverse Reactions / pathology, Female, Humans, Immunotherapy, Inflammation / immunology, Inflammation / pathology, Ipilimumab / administration & dosage, Ipilimumab / adverse effects, Male, Melanoma / immunology, Melanoma / pathology, Middle Aged, Neoplasm Metastasis, Nephritis, Interstitial / immunology, Nephritis, Interstitial / pathology, Nivolumab, Programmed Cell Death 1 Receptor / antagonists & inhibitors, Antibodies, Monoclonal, Antibodies, Monoclonal, Humanized, Ipilimumab, PDCD1 protein, human, Programmed Cell Death 1 Receptor, Nivolumab, pembrolizumab

Background:
Immune checkpoint inhibitors have become the first line therapy in melanoma treatment and their use is extending to other malignancies. However, we are still learning about immune side effects produced by these drugs and their severity especially in patients with history of inflammatory diseases.
Case presentation:
We present two cases of metastatic melanoma treated with nivolumab and pembrolizumab (anti PD-1). Both patients developed acute interstitial nephritis during immune checkpoint therapy. We emphasize the causal association between immune checkpoint inhibitors and the nephritis. The timing of drug administration and appearance of nephritis is suggestive of a causal relation between the checkpoint inhibitor therapy and this adverse event.
Conclusions:
Although uncommon, some side effects from checkpoint inhibitors can be severe and may need to be addressed with immunosuppression. Given the increasing frequency of immunotherapy use, awareness should be raised in regards to immune side effects and their appropriate management.
A rare case of invasive non-typeable Haemophilus influenzae spondylodiscitis and periprosthetic joint infection
Authors: Kevin Sermet, François Demaeght, Isabelle Alcaraz, Nathalie Viget, Julie Dauenhauer, Eric Senneville, Olivier Robineau
Journal: J Bone Jt Infect (2021)
MeSH terms: Case Reports

A non-typeable Haemophilus influenzae (NTHi) was responsible for an invasive infection including bacteremia, spondylodiscitis with epidural abscess, and periprosthetic hip infection in a 79-year-old woman, triggered by a superinfected ethmo-orbital mucocele. Surgical drainage and antibiotic therapy allowed recovery. PET-scan full cartography of NTHi infection dissemination enabled the discovery of spondylodiscitis. This rare cause of spondylodiscitis and periprosthetic joint infection suggests a complete work-up is unavoidable.
Juvenile recurrent parotitis in a 4-year-old patient: a case report
Authors: Nouha Dammak, Latifa Berrezouga, Imen Raadani, Wissal Selmi, Mohamed Ben Khelifa
Journal: Pan Afr Med J (2021)
Keywords: juvenile recurrent parotitis, case report, symptoms, treatment, ultrasonography
MeSH terms: Parotitis / diagnosis, Case Reports, Adolescent, Child, Preschool, Humans, Recurrence, Ultrasonography

Juvenile recurrent parotitis (JRP) is a rare disease. It is most commonly occurring between the ages of 3 and 5 years, that classically resolves at adolescence. It is characterized by recurrent non-suppurative parotitis, with several acute inflammatory episodes per year. The parotid´s swelling tends to be unilateral, but it can occur bilaterally, with a more predominant side. The aim of this work was to present a case report that highlights signs and symptoms of this unusual condition and to stress on the value of ultrasonography as an aid to diagnosis.
GCK-MODY (MODY 2) Caused by a Novel p.Phe330Ser Mutation
Authors: Walter Bonfig, Sandra Hermanns, Katharina Warncke, Gabriele Eder, Ilse Engelsberger, Stefan Burdach, Annette Gabriele Ziegler, Peter Lohse
Journal: ISRN Pediatr (2011)
MeSH terms: Case Reports

Maturity onset diabetes of the young (MODY) is a monogenic form of diabetes inherited as an autosomal dominant trait. The second most common cause is GCK-MODY due to heterozygous mutations in the GCK gene which impair the glucokinase function through different mechanisms such as enzymatic activity, protein stability, and increased interaction with its receptor. The enzyme normally acts as a glucose sensor in the pancreatic beta cell and regulates insulin secretion. We report here a three-generation nonobese family diagnosed with diabetes. All affected family members presented with mild hyperglycemia and mostly slightly elevated hemoglobin A1c values. Genetic testing revealed a novel heterozygous T → C exchange in exon 8 of the GCK gene which resulted in a phenylalanine(330) TTC → serine (TCC)/p.Phe330Ser/F330S substitution.
Case Report: Invasive and Non-invasive Hemodynamic Assessment of Coronary Artery Disease: Strengths and Weaknesses
Authors: Ganesh Gajanan, Saurabhi Samant, Chad Hovseth, Yiannis S Chatzizisis
Journal: Front Cardiovasc Med (2022)
Keywords: ccta, ct ffr, coronary ct angiography, coronary artery disease, coronary physiology, fractional flow reserve, vffr
MeSH terms: Case Reports

Coronary angiography has been the gold standard for assessment of coronary artery disease (CAD) and guidance for percutaneous coronary interventions (PCI). Physiology-guided PCI has shown increased safety and efficacy, improved resource utilization, and better clinical outcomes in patients with stable angina and acute coronary syndromes. The three cases presented and discussed in this report illustrate the strengths and weaknesses of the available invasive and non-invasive methods for the physiological assessment of CAD. As technology evolves, invasive non-wire-based (angiography-derived FFR) and non-invasive (FFRCT) modalities for the hemodynamic assessment of CAD appear to provide reliable and user-friendly alternatives to the gold standard invasive wire-based techniques. Interventional cardiologists and cardiovascular healthcare providers should be familiar with the strengths and weaknesses of the available hemodynamic assessment modalities.
X-Linked Lymphoproliferative Disease Mimicking Multisystem Inflammatory Syndrome in Children-A Case Report
Authors: Seraina Prader, Nicole Ritz, Frédéric Baleydier, Maya C Andre, Noémie Stähli, Kevin Schmid, Hanna Schmid, Andreas Woerner, Tamara Diesch, Patrick M Meyer Sauteur, Johannes Trück, Fabienne Gebistorf, Lennart Opitz, Michael P Killian, Tommaso Marchetti, Stefano Vavassori, Géraldine Blanchard-Rohner, Valerie Mc Lin, Serge Grazioli, Jana Pachlopnik Schmid
Journal: Front Pediatr (2021)
Keywords: hlh, mis-c, pims-ts, sars-cov-2, xlp1, case report, fatal, pediatric
MeSH terms: Case Reports

Most children with a SARS-CoV-2 infection are asymptomatic or exhibit mild symptoms. However, a small number of children develop features of substantial inflammation temporarily related to the COVID-19 also called multisystem inflammatory syndrome in children (MIS-C) or pediatric inflammatory multisystem syndrome temporally associated with SARS-CoV-2 (PIMS-TS), clinically similar to Kawasaki disease, toxic shock syndrome and hemophagocytic lymphohistiocytosis (HLH). It is well-known that genetic pre-disposition plays an important role in virally-triggered diseases such as Epstein-Barr virus (EBV)-associated HLH, while this has not yet been established for patients with MIS-C. Here we describe a male patient fulfilling the diagnostic criteria of MIS-C, who was initially treated according to current consensus guidelines. Presence of hypofibrinogenemia, normal lymphocyte counts and C-reactive protein, but substantial hyperferritinemia distinguish this patient from others with MIS-C. The clinical course following initial presentation with acute respiratory distress syndrome was marked by fatal liver failure in the context of EBV-associated HLH despite treatment with steroids, intravenous immunoglobulins, interleukin (IL)-1 receptor blockade and eventually HLH-directed treatment. X-linked lymphoproliferative disease type 1 (XLP1), a subtype of primary HLH was diagnosed in this patient post-mortem. This case report highlights the importance of including HLH in the differential diagnosis in MIS-C with severe disease course to allow specific, risk-adapted treatment and genetic counseling.
A Novel Missense Mutation of the DDHD1 Gene Associated with Juvenile Amyotrophic Lateral Sclerosis
Authors: Chujun Wu, Dongsheng Fan
Journal: Front Aging Neurosci (2016)
Keywords: ddhd1 gene, amyotrophic lateral sclerosis, hereditary spastic paraplegia, juvenile, mutation
MeSH terms: Case Reports

Background: Juvenile amyotrophic lateral sclerosis (jALS) is a rare form of ALS with an onset age of less than 25 years and is frequently thought to be genetic in origin. DDHD1 gene mutations have been reported to be associated with the SPG28 subtype of autosomal recessive HSP but have never been reported in jALS patients. Methods: Gene screens for the causative genes of ALS, HSP and CMT using next-generation sequencing (NGS) technologies were performed on a jALS patient. Sanger sequencing was used to validate identified variants and perform segregation analysis. Results: We identified a novel c.1483A>G (p.Met495Val) homozygous missense mutation of the DDHD1 gene in the jALS patient. All of his parents and young bother were heterozygous for this mutation. The mutation was not found in 800 Chinese control subjects or the database of dbSNP, ExAC and 1000G. Conclusion: The novel c.1483A>G (p.Met495Val) missense mutation of the DDHD1 gene could be a causative mutation of autosomal recessive jALS.
Efficacy of dabrafenib/trametinib in pancreatic ductal adenocarcinoma with BRAF NVTAP deletion: A case report
Authors: Ji Eun Shin, Ho Jung An, Hyung Soon Park, Hyunho Kim, Byoung Yong Shim
Journal: Front Oncol (2022)
Keywords: braf mutation, braf short in-frame deletion, ngs, dabrafenib/trametinib, pancreatic ductal adenocarcinoma
MeSH terms: Case Reports

Studies have been actively conducted to identify actionable mutations and incorporate them into clinical practice in pancreatic ductal adenocarcinoma (PDAC), which is known to have a poor prognosis with traditional cytotoxic chemotherapy. A BRAF point mutation in V600E is commonly reported in KRAS wild-type PDAC, and targeting BRAF_V600E is already being applied to various carcinomas, including PDAC. Accumulated evidence also shows that not only BRAF_V600E but also short in-frame deletions of BRAF have an oncogenic function. Here, we report that a patient with BRAF N486_P490 deletion initiated on dabrafenib or trametinib, a BRAF inhibitor, and a MEK inhibitor, respectively, after cytotoxic chemotherapy failure. The patient then presented with a partial response.
Case Report: Acute obstructive hydrocephalus associated with infratentorial extra-axial fluid collection following foramen magnum decompression and durotomy for Chiari malformation type I
Authors: Sunil Munakomi, Binod Bhattarai, Pramod Chaudhary
Journal: F1000Res (2016)
Keywords: chiari malformation, extra axial fluid collection, foramen magnum decompression, ventriculo-peritoneal shunt

Acute obstructive hydrocephalus due to infratentorial extra-axial fluid collection (EAFC) is an extremely rare complication of foramen magnum decompression (FMD) and durotomy for Chiari malformation type I. Presence of infratentorial EAFC invariably causes obstruction at the level of the fourth ventricle or aqueduct of Silvius, thereby indicating its definitive role in hydrocephalus. Pathogenesis of EAFC is said to be a local arachnoid tear as a result of durotomy, as this complication is not described in FMD without durotomy. Controversy exists in management. Usually EAFC is said to resolve with conservative management; so hydrocephalus doesn't require treatment. However, in this case EAFC was progressive and ventriculo-peritoneal shunting (VPS) was needed for managing progressive and symptomatic hydrocephalus.