OpenMed/multicare-articles huggingface dataset:
Minimal Invasive Surgical Management of Familial Arteriovenous Malformation
Authors: Mokhtar Mamdouh Abdel-Latif, Shankargouda Patil
Journal: Case Rep Dent (2021)
MeSH terms: Case Reports

Introduction:
Familial arteriovenous malformations are exceedingly rare. They are often noted at birth. They can also present during childhood or adolescence. Sclerotherapy has proven to have a favorable outcome. Case Presentation. The present case report describes the treatment of arteriovenous malformations on the tongue, labial mucosa, and vermilion border in siblings treated with boiling saline injections.
Conclusion:
Sclerotherapy using boiling saline had shown to effectively treat arteriovenous malformations in the oral region without any significant morbidity.
A Case of Listeria monocytogenes Infective Endocarditis
Authors: Faraz Badar, Refayat Bhuiyan, Shaha Nabeel
Journal: Case Rep Infect Dis (2022)
MeSH terms: Case Reports

Listeriamonocytogenes (L. monocytogenes) is a Gram-positive facultative intracellular aerobic bacterium. We report the case of a 77-year-old male presenting with focal neurological symptoms found secondary to embolization from L. monocytogenes infective endocarditis (IE) involving the mitral valve. Blood cultures and echocardiogram were positive. Meningitis was ruled out via lumbar puncture. Treatment was done successfully with a prolonged course of ceftazidime. IE from L. monocytogenes is a rare but life-threatening complication and therefore prompt identification of infectious process is paramount. The mainstay of therapy is use of beta-lactams.
Case Report: Persistent Hypogammaglobulinemia More Than 10 Years After Rituximab Given Post-HSCT
Authors: Fanny Luterbacher, Fanette Bernard, Frédéric Baleydier, Emmanuelle Ranza, Peter Jandus, Geraldine Blanchard-Rohner
Journal: Front Immunol (2021)
Keywords: hsct, children, hypogammaglobulinemia, immunological workup, rituximab
MeSH terms: Agammaglobulinemia / diagnosis, Epstein-Barr Virus Infections / drug therapy, Graft vs Host Disease / drug therapy, Hematopoietic Stem Cell Transplantation / adverse effects, Rituximab / adverse effects, Case Reports, Adolescent, Agammaglobulinemia / blood, Agammaglobulinemia / chemically induced, Anemia, Aplastic / immunology, Anemia, Aplastic / therapy, Epstein-Barr Virus Infections / immunology, Graft vs Host Disease / immunology, Humans, Male, Precursor B-Cell Lymphoblastic Leukemia-Lymphoma / immunology, Precursor B-Cell Lymphoblastic Leukemia-Lymphoma / therapy, Time Factors, Young Adult, Rituximab

Rituximab (RTX) is an anti-CD20 monoclonal antibody that targets B cells-from the immature pre-B-cell stage in the bone marrow to mature circulating B cells-while preserving stem cells and plasma cells. It is used to treat autoimmune diseases, hematological malignancies, or complications after hematopoietic stem cell transplantation (HSCT). Its safety profile is acceptable; however, a subset of patients can develop persistent hypogammaglobulinemia and associated severe complications, especially in pediatric populations. We report the unrelated cases of two young men aged 17 and 22, presenting with persistent hypogammaglobulinemia more than 7 and 10 years after treatment with RTX, respectively, and administered after HSCT for hemolytic anemia and Epstein-Barr virus reactivation, respectively. Both patients' immunological workups showed low levels of total immunoglobulin, vaccine antibodies, and class switched-memory B cells but an increase in naive B cells, which can also be observed in primary immunodeficiencies such as those making up common variable immunodeficiency. Whole exome sequencing for one of the patients failed to detect a pathogenic variant causing a Mendelian immunological disorder. Annual assessments involving interruption of immunoglobulin replacement therapy each summer failed to demonstrate the recovery of endogenous immunoglobulin production or normal numbers of class switched-memory B cells 7 and 10 years after the patients' respective treatments with RTX. Although the factors that may lead to prolonged hypogammaglobulinemia after rituximab treatment (if necessary) remain unclear, a comprehensive immunological workup before treatment and long-term follow-up are mandatory to assess long-term complications, especially in children.
Bilateral Meningo-Cortical Involvement in Anti-myelin Oligodendrocyte Glycoprotein-IgG Associated Disorders: A Case Report
Authors: Guozhong Ma, Jinzhao He, Yan Li, Yan Xu, Yunxin Hu, Fang Cui
Journal: Front Neurol (2021)
Keywords: anti-myelin oligodendrocyte glycoprotein-igg associated disorders, bilateral, case report, magnetic resonance imaging feature, meningo-cortical involvement
MeSH terms: Case Reports

Cortical T2-weighted fluid-attenuated inversion recovery (FLAIR)-hyperintense lesions in anti-myelin oligodendrocyte glycoprotein (MOG)-associated encephalitis with seizures (FLAMES) are mostly unilateral and rarely spread to the bilateral cortex and meninges. We describe a case of MOG-immunoglobulin G (IgG) associated disorder (MOGAD) in a 39-year-old male with bilateral meningo-cortical involvement. The patient was hospitalized for epilepsy, fever, and headache. The initial MRI revealed abnormalities in the sulci of the bilateral frontal, temporal, and parietal lobes. He was considered to have infectious encephalitis and given empiric antibiotic and antiviral therapy, which were ineffective. His condition rapidly improved after the patient was switched to high-dose immunoglobulin therapy. No tests supported the presence of central nervous system (CNS) infections or autoimmune encephalitis. The second and third MRI scans showed reduced but still clearly observable meningo-cortical lesions. The patient was discharged without a definite diagnosis, but reported severe left vision impairment 25 days later. A fourth MRI showed signs typical of demyelinating CNS disease in addition to the original meningo-cortical lesions. The patient's symptoms were initially relieved by low-dose corticosteroid therapy, but they eventually returned, and he was re-admitted. The original lesions were diminished on the fifth MRI scan, but new lesions had developed in the deep white matter. A positive cell-based assay for MOG-IgG in serum confirmed MOGAD. The patient received high-dose corticosteroid treatment followed by an oral methylprednisolone taper, and his visual acuity gradually improved. The sixth and final MRI showed substantial decreases in the original lesions without new lesion formation. This unique case presents the complete diagnosis and treatment process for MOGAD with bilateral meningo-cortical involvement and may provide a reference for prompt diagnosis.
Cobalt Cardiomyopathy Secondary to Hip Arthroplasty: An Increasingly Prevalent Problem
Authors: Russel Tilney, Melanie Roberta Burg, Mark Adrian Sammut
Journal: Case Rep Cardiol (2017)
MeSH terms: Case Reports

A forty-year-old man experienced worsening heart failure four years following bilateral complicated total hip replacement. His condition was extensively worked up but no underlying pathology was immediately evident. Given the cobalt-chromium alloy component present in the hip arthroplasties, the raised cobalt blood levels, and a fitting clinical picture coupled with radiological findings, the patient underwent right hip revision. Evidence of biotribocorrosion was present on direct visualisation intraoperatively. The patient subsequently experienced symptomatic improvement (NYHA class III to class I) and echocardiography showed recovery of ejection fraction. Cobalt exists as a bivalent and trivalent molecule in circulation and produces a cytotoxicity profile similar to nanoparticles, causing neurological, thyroid, and cardiological pathology. Blood levels are not entirely useful as there is no identifiable conversion factor for levels in whole blood, serum, and erythrocytes which seem to act independently of each other. Interestingly cobalt cardiomyopathy is frequently compounded by other possible causes of cardiomyopathy such as alcohol and a link has been postulated. Definitive treatment is revision of the arthroplasty as other treatments are unproven.
Case report: A case report of Alport syndrome caused by a novel mutation of COL4A5
Authors: Shujun Pan, Rizhen Yu, Shikai Liang
Journal: Front Genet (2023)
Keywords: alport syndrome, col4a5, case report, genetic disease, glycine substitution
MeSH terms: Case Reports

Alport syndrome (#308940) is an X-linked genetic disease with clinical manifestations, such as hematuria, proteinuria, renal insufficiency, and end-stage renal disease. The disease is characterized by the thinning of the glomerular basement membrane in the early stages and the thickening of the glomerular basement membrane in the late stages and may be associated with ocular lesions and varying degrees of sensorineural deafness. Herein, we report a case of Alport syndrome caused by a de novo mutation in COL4A5. The patient was a young male with clinical manifestations of hematuria and massive proteinuria who was diagnosed with Alport syndrome based on renal pathology and genetic testing.
Papulopustular Dermatitis in X-Linked Chronic Granulomatous Disease
Authors: Puja Sood Rajani, Maria A Slack
Journal: Front Pediatr (2019)
Keywords: chronic granulomatous disease (cgd), dermatitis, immune deficiency, immunodeficiency-primary, papulopustlar lesions, papulopustular, rash
MeSH terms: Case Reports

Here we describe two term male infants diagnosed with X-linked CGD who present, in addition to frequent infection, with a unique papulopustular skin rash. CGD is caused by a number of genetic defects that impair phagocyte function. This disease results in recurrent infections and granuloma formation. Rarely do patients develop cutaneous symptoms, unless associated with autoimmune disorders such as systemic erythematous lupus (1). Each male infant mentioned here was diagnosed with CGD based on abnormal DHR testing and confirmatory genetic testing. The presenting papulopustular dermatitis was initially characterized as non-classic appearing eczema and subsequently found to be refractory to usual eczema treatment and antibiotics. After obtaining written informed consent from both families, we have documented photographs of the development of a characteristic rash in two newly diagnosed infants with CGD. One infant underwent cutaneous biopsy with histologic evaluation and negative cultures. The dermatitis for both infants was refractory to topical and systemic therapies, and resolved after bone marrow transplantation. Our objective was to characterize cutaneous findings in X-linked CGD and emphasize the importance of considering further immune workup in patients who present with unusual cutaneous findings that do not fit with common infant rashes in conjunction with concerning features for primary immunodeficiency.
Familial Immune Thrombocytopenia Associated With a Novel Variant in IKZF1
Authors: Panida Sriaroon, Yenhui Chang, Boglarka Ujhazi, Krisztian Csomos, Hemant R Joshi, Qin Zhou, Devin W Close, Jolan E Walter, Attila Kumánovics
Journal: Front Pediatr (2019)
Keywords: ikaros deficiency, ikzf1, itp, autoimmunity, immune thrombocytopenia, primary immunodeficiency
MeSH terms: Case Reports

We report a novel variant in IKZF1 associated with IKAROS haploinsufficiency in a patient with familial immune thrombocytopenia (ITP). IKAROS, encoded by the IKZF1 gene, is a hematopoietic zinc-finger transcription factor that can directly bind to DNA. We show that the identified IKZF1 variant (p.His195Arg) alters a completely conserved histidine residue required for the folding of the third zinc-finger of IKAROS protein, leading to a loss of characteristic immunofluorescence nuclear staining pattern. In our case, genetic testing was essential for the diagnosis of IKAROS haploinsufficiency, of which known presentations include infections, aberrant hematopoiesis, leukemia, and age-related decrease in humoral immunity. Our family study underscores that, after infections, ITP is the second most common clinical manifestation of IKAROS haploinsufficiency.
Bell's palsy at high altitude -- an unsuspected finding
Authors: K V S Hari Kumar, K P Shijith, F M H Ahmad
Journal: Mil Med Res (2016)
Keywords: bell’s palsy, hyperparathyroidism, intracranial calcification, vitamin d deficiency

Background:
Bell's palsy is a common condition seen in clinical practice. The aetiology of this condition is not clearly defined and neuroimaging is essential to exclude intracranial causes of infra-nuclear facial palsy.
Case presentation:
We report a young soldier, who presented with Bell's palsy and neuroimaging revealed an unsuspected finding of multiple intracranial calcifications. Detailed evaluation revealed the additional diagnosis of vitamin D deficiency and secondary hyperparathyroidism due to lack of sun exposure at high altitude area.
Conclusion:
The health care practitioners, looking after the soldiers at high altitude areas should be aware of the measures to prevent vitamin D deficiency. Intracranial calcifications are uncommon in hyperparathyroidism and Bell's palsy.
Autoimmune Lymphoproliferative Syndrome and Epstein-Barr Virus-Associated Lymphoma: An Adjunctive Diagnostic Role for Monitoring EBV Viremia?
Authors: Romina Pace, Donald C Vinh
Journal: Case Reports Immunol (2013)

Background. Autoimmune lymphoproliferative syndrome (ALPS) is a genetic disorder of lymphocyte homeostasis due to defects in FAS-mediated apoptosis. ALPS is characterized by childhood onset of chronic lymphadenopathy and splenomegaly, autoimmunity, an expanded population of double-negative T cells (DNTCs), and an increased risk of lymphoma. This propensity for lymphoma in ALPS is not well understood. It is possible that lymphomagenesis in some of these patients may result from Epstein-Barr virus (EBV) infection exploiting the defective T-cell surveillance resulting from impaired FAS-mediated apoptosis. Case Presentation. We report the first case, to our knowledge, of lymphoma in a patient with ALPS that was clinically heralded by progressively increasing EBV viremia. We discuss its practical implications and the possible immune pathways involved in the increased risk for EBV-associated lymphoproliferative disorders in ALPS patients. Conclusion. In patients with ALPS, distinguishing chronic lymphadenopathy from emerging lymphoma is difficult, with few practical recommendations available. This case illustrates that, at least for some patients, monitoring for progressively increasing EBV viremia may be useful.
Drug-Induced Hypersensitivity Syndrome: A Clinical, Radiologic, and Histologic Mimic of Lymphoma
Authors: Faaria Gowani, Bradley Gehrs, Teresa Scordino
Journal: Case Rep Hematol (2018)
MeSH terms: Case Reports

Drug-induced hypersensitivity syndrome (DIHS; also known as drug reaction with eosinophilia and systemic symptoms, or DRESS) is a rare, potentially life-threatening condition that typically presents 2-8 weeks after drug exposure with fever, rash, organ dysfunction, and lymphadenopathy. Here, we describe the case of an 18-year-old African American female who presented with cervical lymphadenopathy, fevers, and a macular rash. A PET scan showed diffuse hypermetabolic lymphadenopathy suggestive of lymphoma, with involvement of the spleen and kidneys. The clinical history, imaging, and biopsy findings initially raised concern for a malignant process, with a differential diagnosis including classic Hodgkin's lymphoma and T-cell lymphoma. However, the morphologic and immunophenotypic features were not entirely typical for those diagnoses. The patient was ultimately diagnosed with DIHS after it was learned that she recently had been treated with minocycline, a medication previously implicated in causing DIHS.
Histiocytic Necrotizing Lymphadenitis Mimicking Acute Appendicitis in a Child: A Case Report
Authors: Chun-Zhen Hua, Yu-Kai Chen, Shun-Zhi Chen, Wei-Zhong Gu, Qiang Shu
Journal: Front Pediatr (2021)
Keywords: kikuchi-fujimoto disease, acute appendicitis, case report, child, histiocytic necrotizing lymphadenitis
MeSH terms: Case Reports

Background: Histiocytic necrotizing lymphadenitis, also known as Kikuchi-Fujimoto disease (KFD), is a self-limiting inflammatory disease with low incidence and high misdiagnosis rate in children. Furthermore, cases where the clinical presentation resembles acute appendicitis are very rare. Case Presentation: A 14-year-old boy was misdiagnosed as acute appendicitis and received operative treatment at his early visit. He suffered from abdominal pain, vomiting, diarrhea, fever, and lymphadenitis at the ileocecal junction, which were found by B-ultrasonography examination and surgery. Lymphadenectomy, as well as appendectomy, was performed, and KFD was identified by pathological examination. The patient was transferred to our hospital for further therapy because of recurrent fever and abdominal pain after the appendectomy. His temperature became normal after methylprednisolone was administered, and no recurrence was observed till now during follow-up. Conclusions: Necrotizing lymphadenitis involving mesenteric lymph nodes may cause acute-appendicitis-like symptom; KFD should be a diagnostic consideration for mesenteric lymphadenitis.
Video Assisted Anal Fistula Treatment in a Child with Perianal Fistula
Authors: Naeem Liaqat, Asif Iqbal, Sajid Hameed Dar, Faheem Liaqat
Journal: APSP J Case Rep (2016)
Keywords: children, perianal fistula, vaaft
MeSH terms: Case Reports

Perianal fistula formation is a rare complication in children after rectal biopsy. Perianal fistula may become difficult to treat; therefore a lot of surgical options are present. One of these options is video assisted anal fistula treatment (VAAFT). We present a 6-year-old female who developed perianal fistula following rectal biopsy for which VAAFT was done successfully.
A Postural Tremor Highly Responsive to Transcranial Cerebello-Cerebral DCS in ARCA3
Authors: Florian Bodranghien, Nordeyn Oulad Ben Taib, Lionel Van Maldergem, Mario Manto
Journal: Front Neurol (2017)
Keywords: ano10, purkinje neurons, cerebellar ataxia, transcranial direct current stimulation, tremor
MeSH terms: Case Reports

Background and objectives:
Cerebellar ataxias are disabling disorders that impact the quality of life of patients. In many cases, an effective treatment is missing. Despite the increasing knowledge on the pathogenesis of cerebellar disorders including genetic aspects, there is currently a gap in the therapeutical management of cerebellar deficits. Cerebellar ataxia associated with ANO10 mutation (ARCA3) presents a disabling cerebellar syndrome. The aim of this study is to report a patient with a marked postural tremor responding to transcranial cerebello-cerebral direct current stimulation (tCCDCS).
Methods:
We applied tCCDCS using anodal stimulation over the cerebellum with a return electrode on the contralateral motor cortex. We performed a clinical rating, accelerometry studies, and recordings of voluntary movements at baseline, after sham, and after active tCCDCS.
Results:
A dramatic response of postural tremor was observed after tCCDCS, with a major drop of the power spectral density to 26.12% of basal values.
Discussion:
The postural tremor of cerebellar ataxia associated with ANO10 mutation was highly responsive to tCCDCS in our patient. This case illustrates that tCCDCS is a novel therapeutic option in the treatment of cerebellar deficits and might represent a promising tool to reduce tremor in ARCA3.
A Case of Isolated Primary Pleural Neurofibroma in a 39-Year-Old Woman
Authors: Kritika Krishnamurthy, John Alexis, Pukhraz Basra, Ana Maria Medina
Journal: Case Rep Pulmonol (2019)
MeSH terms: Case Reports

Primary benign neurogenic neoplasms of the pleura are exceedingly rare. Neurofibromas rarely involve the pleura. A review of the literarture reveals only a single reported case of isolated pleural neurofibroma. Herein the authors describe another case of isolated primary pleural neurofibroma. A 39-year-old nonsmoker woman presented to the emergency room with complaints of progressively worsening chest pain of one month duration. A computed tomography of the chest revealed a crescent shaped, pleural based mass suspicious for a neurogenic tumor such as an intercostal schwannoma. A PET-CT skull base to midthigh failed to reveal any other masses or abnormalities. A surgical excision of the mass was performed due to the patient's intractable pain. The resected specimen consisted of an ovoid fragment of soft tissue with pale yellow, smooth and glistening cut surface. Microscopic examination revealed the tumor to be composed of spindle cells with wavy nuclei arranged haphazardly in loose collagenous and pale myxoid stroma with rare interspersed mast cells. The spindle cells were diffusely positive for S100 protein and SOX-10, and focally positive for neurofilament. In the absence of any other masses in the patient and no pertinent history, a diagnosis of primary pleural neurofibroma was made. This case emphasizes the need to consider neurofibroma in any spindle cell neoplasm of the pleura irrespective of age or singularity.
Aortoesophageal fistula after endovascular aortic aneurysm repair of a mycotic thoracic aneurysm
Authors: Elizabeth Gavens, Zehra Zaidi, Wissam Al-Jundi, Palepu Kumar
Journal: Int J Vasc Med (2011)
MeSH terms: Case Reports

Mycotic aneurysms constitute a small proportion of aortic aneurysms. Endovascular repair of mycotic aneurysms has been applied with good short-term and midterm results. However, the uncommon aortoenteric fistula formation remains a potentially fatal complication when repairing such infective aneurysms. We present the case of an 80-year-old woman with thoracic and abdominal aortic mycotic aneurysms, which were successfully treated with endografting. However, the patient presented 3 months later with upper gastrointestinal bleeding secondary to erosion of the thoracic graft into the oesophagus. The patient was treated conservatively due to the high risk of surgical repair. There is currently little exposure to the management of mycotic aortic aneurysms. If suspected, imaging of the entire vasculature will aid initial diagnosis and highlight the extent of the disease process, allowing for efficient management. Aortic endografting for mycotic thoracic aneurysms is a high-risk procedure yet is still an appropriate intervention. Aortoenteric fistulae pose a rare but severe complication of aortic endografting in this setting.
"Heart appearance" infarction of the pons: a case report
Authors: Keisuke Ishizawa, Mikiko Ninomiya, Yoshihiko Nakazato, Toshimasa Yamamoto, Nobuo Araki
Journal: Case Rep Radiol (2012)

"Heart appearance" on magnetic resonance imaging (MRI) is a unique presentation of bilateral medial medullary infarction. In contrast, "heart appearance" infarction of the pons has rarely been featured in the medical literature. In this paper, we present a case of "heart appearance" infarction of the pons with its MRI and magnetic resonance angiography (MRA) findings. The patient was an 87-year-old male who manifested with weakness in the four extremities. Later, bulbar palsy and tetraplegia became apparent, and he eventually was trapped in locked-in syndrome. Brain MRI disclosed a "heart appearance" lesion in the pons, which was high on diffusion-weighted image MRI and low on apparent diffusion coefficient map MRI. Brain MRA demonstrated that the basilar artery remained intact. A diagnosis of fresh, bilateral pontine infarction with a "heart appearance" was made. After the treatment he was transferred to another hospital for long-term care. This case suggests that bilateral ischemic involvement of the pons is possible even in the context of an intact basilar artery.