OpenMed/multicare-articles huggingface dataset:
End-stage renal disease secondary to anti-glomerular basement membrane disease in a child with common variable immunodeficiency
Authors: Sai Sudha Mannemuddhu, William Clapp, Renee Modica, Melissa E Elder, Kiran Upadhyay
Journal: Clin Nephrol Case Stud (2019)
Keywords: anti-glomerular basement membrane antibody, common variable immunodeficiency, end-stage renal disease, rapidly-proliferative glomerulonephritis
MeSH terms: Case Reports

Background:
Anti-glomerular basement membrane (GBM) disease is caused by autoantibodies against the α3-chain of type IV collagen in the GBM. Common variable immunodeficiency (CVID) is a primary immunodeficiency manifested by hypogammaglobulinemia, inability to make functional antibody, and recurrent infections. This report extends the phenotype of CVID-associated autoimmune diseases to include anti-GBM disease.
Case presentation:
A 15-year-old Caucasian female with prior normal renal function presented with nephrotic proteinuria, pedal edema, oliguria, acute kidney injury, and was found to have positive serum anti-GBM antibody. She had been diagnosed with CVID at 3 years of age. Her renal biopsy showed crescentic glomerulonephritis (50%), and immunofluorescence showed linear staining for IgG along the glomerular capillary wall. There was no clinical or imaging evidence of pulmonary hemorrhage. She was treated with pulse IV steroids, cyclophosphamide, rituximab, and several sessions of plasmapheresis. Her serum anti-GBM antibody level decreased from 194 U/mL at presentation to 0 U/mL after therapy. However, she progressed to end-stage renal disease (ESRD) within weeks, despite aggressive therapy, and required chronic renal replacement therapy in the form of dialysis. Her clinical course was also complicated by hypertensive encephalopathy, CMV viremia and meningoencephalitis, status epilepticus, and she passed away a few months later from lower respiratory tract complications.
Conclusion:
Anti-GBM disease is a rare autoimmune condition that has not been reported in association with a primary immunodeficiency syndrome. ESRD secondary to anti-GBM disease in a patient with CVID is an interesting association and supports the role of immune dysregulation in systemic autoimmune disease.
A de novo Variant of ASXL1 Is Associated With an Atypical Phenotype of Bohring-Opitz Syndrome: Case Report and Literature Review
Authors: Weiqing Zhao, Xiao Hu, Ye Liu, Xike Wang, Yun Chen, Yangyang Wang, Hao Zhou
Journal: Front Pediatr (2021)
Keywords: asxl1 gene, bohring-opitz syndrome, infant, intrauterine growth restriction, rare diseases
MeSH terms: Case Reports

Bohring-Opitz syndrome (BOS) is a rare genetic disease first reported by Bohring et al. in 1999. With the recent development of exome sequencing (ES), de novo truncating mutations in the additional sex-combs-like 1 (ASXL1) gene have been causally implicated in BOS. Herein, we describe a 7-month-old girl with intrauterine growth restriction, severe pulmonary infection, seizures, and craniofacial abnormalities (microcephaly, micro/retrognathia, hypertelorism, depressed nasal bridge, low-set ears and hypertrichosis) at birth. At a later stage, the patient developed global developmental delay. We performed ES and identified a de novo heterozygous mutation in ASXL1, namely, c.1210C>T/p.R404*. However, this case did not have trigonocephaly, facial hemangioma, prominent eyes, myopia, BOS posture, or brain abnormalities (enlarged subarachnoid spaces, agenesis of the corpus callosum, moderately enlarged cerebral ventricles, or prominent frontal subarachnoid spaces), which are common characteristics in most patients with BOS-harboring ASXL1 mutations. These new data expand the phenotype of BOS driven by ASXL1 and may assist in more accurately delineating the phenotypes caused by variants of this gene.
Wegener granulomatosis revealed by pleural effusion
Authors: Anne-Claire Toffart, François Arbib, Sylvie Lantuejoul, Jean-François Roux, Vincent Bland, Gilbert Ferretti, Samia Diab
Journal: Case Rep Med (2009)
MeSH terms: Case Reports

Pulmonary signs are common in Wegener's granulomatosis (WG). However, an initial presentation including pleural effusion has not been described. We describe a case of WG in which pleural effusion was the first clinical manifestation. A 45-year-old man with dorsal pain presented with pleural thickening and effusion, and a visible nodule on a thoracic scan. A dense chronic inflammatory infiltrate was obtained by pleural biopsy and an open lung biopsy revealed necrotizing granulomatous vasculitis. Serologies were positive for antineutrophil cytoplasmic antibodies and antiproteinase 3 antibodies. A diagnosis of WG was conducted and the patient was started on cyclophosphamide and methylprednisolone as an initial treatment, with a favorable evolution. Although pleural effusion is rarely described in WG, this pathology must be considered in the presence of this clinical manifestation.
Acupuncture treatment of a pregnant patient with Bell's palsy in the third trimester: Case report
Authors: Danchun Lan, Wenfei Deng, Kunze He, Qian Li, Xin Peng, Jinxiong Lao, Ziyong Li
Journal: Front Neurol (2023)
Keywords: bell's palsy, acupuncture, case report, pregnant patient, third trimester
MeSH terms: Case Reports

At present, the optimal treatment for Bell's palsy remains controversial, and the combination of corticosteroids and antiviral medication is usually recommended in the early stage. However, treatment is often delayed because the effects of these drugs on pregnant women and fetuses are still unclear. As a safe and effective complementary alternative therapy, acupuncture can alleviate Bell's palsy symptoms and improve the quality of life of the patient. Herein, we report the clinical presentation of a 27-year-old woman with Bell's palsy who was 26 weeks pregnant at the time of diagnosis. After five courses of treatment, the patient made a complete recovery.
Management of isolated retroperitoneal Castelman's disease: A case report
Authors: Ben Ismail Imen, Hakim Zenaidi, Yahmadi Abdelwahed, Rebii Sabeur, Zoghlami Ayoub
Journal: Int J Surg Case Rep (2020)
Keywords: angiofollicular lymphoid hyperplasia, castelman disease, retroperitoneal tumor, surgical management, unicentric
MeSH terms: Case Reports

Introduction:
Castleman's disease (CD) is a rare disorder characterized by benign angio follicular lymphoid hyperplasia, with gentle behavior. Its etiology and prevalence are unclear. It is usually found in the mediastinal area and it is rare to see this tumor in the retroperitoneum.
Presentation of case:
A 53 year old male with a retroperitoneal hypervascular calcified mass densely adherent to the psoas muscle that was accidentally encountered on a CT scan. Provisional diagnosis of retroperitoneal liposarcoma was made and the patient underwent an exploratory laparotomy. The histologic examination of the surgically resected specimen disclosed « a hyaline type of Castleman's disease ».
Discussion:
Castleman's disease, is a rare heterogenous group of lymphoproliferative disorders that arises mostly in the mediastinum. The retroperitoneal localization is very rare. Clinically, CD can be subdivided into a localized form (unicentric disease) and a generalized form (multicentric disease) according to the number of lymph nodes involved. A careful histological and immunohistochemical examination of the tumor tissue after surgery is the only way for tumor diagnosis.
Conclusion:
Castelman's disease is a rare entity that has often benign and non invasive behavior, but remains a diagnostic challenge. There is no reliable diagnostic method and its definitive diagnosis is based on histopathology report. For treating the unicentric variant, radical surgical resection is considered to be the gold standard.
Internal Auditory Canal Dural Enhancement in Granulomatosis with Polyangeitis Disease
Authors: Juan Carlos Izquierdo Velásquez, Luis Felipe Romero Moreno
Journal: Case Rep Neurol Med (2018)
MeSH terms: Case Reports

Diffuse dural enhancement of the internal auditory canal in T1-weighted gadolinium-enhanced magnetic resonance imaging could be a helpful and early clinical sign in a very aggressive limited granulomatosis with polyangeitis disease, called previously Wegener Disease (WD).
A Case of False Negative NIPT for Down Syndrome-Lessons Learned
Authors: Meagan Smith, Kimberly M Lewis, Alexandrea Holmes, Jeannie Visootsak
Journal: Case Rep Genet (2014)

Down syndrome or trisomy 21 is the most common cause of prenatal chromosome abnormalities with approximately 50% of all reported chromosome conditions. With the successful introduction of noninvasive prenatal testing (NIPT) for Down syndrome into routine prenatal care, it is important to understand the risks, benefits, and limitations in order to guide patients in making an informed decision. Herein, we describe the first published case report of a patient whose fetus tested "negative" for Trisomy 21 by NIPT but was diagnosed postnatally with trisomy 21. We present the importance of proper pretest and posttest genetic counseling to ensure prenatal patients are able to make informed decisions and are educated appropriately about NIPT.
Simultaneous Pulmonary Embolism and Carotid Thrombosis as a Presenting Manifestation of COVID-19
Authors: Leon Smith, Brian Zeman
Journal: Case Rep Neurol Med (2022)
MeSH terms: Case Reports

Although COVID-19 was initially described predominantly as a respiratory infection, subsequent reports noted that it can produce generalised inflammation with effects on multiple organ systems. As a result, it is possible for patients with COVID-19, including those with severe disease, to present initially with nonrespiratory signs and symptoms. Neurological manifestations, including ischaemic stroke, may be the first presenting issue and can result from carotid thrombosis. Similarly, the risk of both arterial and venous thrombosis is increased in COVID-19, which may result from hypercoagulability associated with systemic inflammation.
Acute myocardial infarction, associated with the use of a synthetic adamantyl-cannabinoid: a case report
Authors: Graham McIlroy, Loretta Ford, Jawad M Khan
Journal: BMC Pharmacol Toxicol (2016)
MeSH terms: Adamantane / toxicity, Cannabinoids / toxicity, Designer Drugs / toxicity, Inhalant Abuse / physiopathology, Myocardial Infarction / etiology, Psychotropic Drugs / toxicity, Case Reports, Adamantane / administration & dosage, Adamantane / urine, Administration, Inhalation, Adult, Cannabinoids / administration & dosage, Cannabinoids / urine, Designer Drugs / administration & dosage, Designer Drugs / analysis, Diagnosis, Differential, Emergency Medical Services, England, Humans, Inhalant Abuse / diagnosis, Inhalant Abuse / urine, Male, Myocardial Infarction / therapy, Psychotropic Drugs / administration & dosage, Psychotropic Drugs / urine, Toxicokinetics, Treatment Outcome, Cannabinoids, Designer Drugs, Psychotropic Drugs, Adamantane

Background:
"Legal highs" are novel psychoactive substances that have evaded statutory control. Synthetic cannabinoid compounds with adamantane moieties have recently been identified, which have high potency at target receptors and are undetectable on conventional toxicology testing. However, little is known about any harmful effects, and their potential to cause serious ill health. We describe a case of myocardial infarction following the use of this class of drug.
Case presentation:
We report the case of a 39-year-old man admitted after an out-of-hospital cardiac arrest, in whom ECG and elevated cardiac enzymes confirmed ST-elevation myocardial infarction. Normal coronary perfusion was restored after thrombectomy and coronary artery stenting. In the hours preceding his admission, the patient is known to have consumed the legal high product "Black Mamba". Subsequent urine testing confirmed the presence of an adamantyl-group synthetic cannabinoid, whilst cannabis, cocaine, amphetamines and other drugs of abuse were not detected.
Conclusion:
The use of legal highs is being increasingly recognised, but the chemical compositions and physiological effects of these drugs are poorly characterised and are continually changing. Synthetic cannabinoids, rarely identified on toxicological testing, can be linked to serious adverse cardiovascular events. This case highlights the importance of testing for novel psychoactive compounds, and recognising their potential to cause life-threatening conditions.
Distant Lung Recurrence of Rectal Cancer 20 Years After Primary Surgery
Authors: Sreekanthan Gobishangar, Sivakumaran Gobinath, Antony J Thanenthiran, Subramaniyam Bakeerathan
Journal: Cureus (2023)
Keywords: adenocarcinoma, hemoptysis, lung metastasis, rectal cancer, thoracotomy
MeSH terms: Case Reports

A male patient in his 70s, who had undergone an abdominoperineal (A1) resection for rectal cancer 20 years prior, presented with hemoptysis. Imaging studies revealed distant lung recurrence, with no evidence of local recurrence. Biopsy revealed an adenocarcinoma, possibly of rectal origin. Immunohistochemical markers were suggestive of rectal cancer metastasis. However, carcinoembryonic antigen (CEA) levels were normal, and colonoscopy did not reveal any metachronous lesions. Curative left upper lobe resection was performed via posterolateral thoracotomy. The patient's recovery was uneventful.
Inflammatory myofibroblastic tumor of the urinary bladder: a case report
Authors: Hamza Dergamoun, Abdelaziz El Gdaouni, Adil Taoufik, Imad Ziouziou
Journal: Pan Afr Med J (2023)
Keywords: inflammatory myofibroblastic tumor, bladder, case report
MeSH terms: Granuloma, Plasma Cell / complications, Granuloma, Plasma Cell / pathology, Granuloma, Plasma Cell / surgery, Urinary Bladder Diseases / diagnosis, Urinary Bladder Diseases / surgery, Urinary Bladder Neoplasms / diagnosis, Urinary Bladder Neoplasms / pathology, Urinary Bladder Neoplasms / surgery, Case Reports, Adult, Child, Cystoscopy, Hematuria / etiology, Humans, Male, Urinary Bladder / pathology, Urinary Bladder / surgery, Young Adult

The inflammatory myofibroblastic tumor (IMT) is a rare lesion, particularly in the urinary bladder. Inflammatory myofibroblastic tumor mainly affects children and young adults. It is unknown neoplastic potential, characterized by spindle cell proliferation with characteristic fibroinflammatory and pseudo-sarcomatous appearance. We describe a 36-year-old Moroccan man, who presented with hematuria the last week. The cystoscopy found a large bladder mass with necrotic-looking floating lesions, located in the trigonal area and left lateral wall on the dome of the urinary bladder. The patient underwent transurethral resection of the bladder tumor (TUR-BT). The histopathology and immunohistochemistry showed an IMT. No evidence of regrowth or residual tumor in 9 months of follow-up cystoscopy. In conclusion, even though, urinary bladder IMT is a rare occurrence, it is associated with a good prognosis. Histopathology investigation and immunohistochemistry analysis are essential to confirm the diagnosis. Complete TUR-BT is the treatment of choice.
Autoimmune Hemolytic Anemia as Presenting Symptom of Hodgkin Lymphoma
Authors: Nicholas B Burley, Paul S Dy, Suraj Hande, Shreyas Kalantri, Chirayu Mohindroo, Kenneth Miller
Journal: Case Rep Hematol (2021)
MeSH terms: Case Reports

Autoimmune hemolytic anemia (AIHA) is related to an underlying condition in an estimated 50 to 60%, while the remaining is idiopathic, as a result of a combination of immune activation, deficiency, or dysregulation. AIHA is associated with viral infections, autoimmune disorders, immunodeficiencies, lymphoproliferative disorders, and pregnancy. AIHA has predictive properties and may be a harbinger of future lymphoproliferative disorders in up to 20% of AIHA cases. Autoimmune hemolytic anemia (AIHA) has been associated with lymphoproliferative disorders particularly chronic lymphocytic leukemia and non-Hodgkin lymphoma. Rarely is it seen in Hodgkin disease. In the following report, we describe the presentation of AIHA, ultimately resulting in the diagnosis of nodular sclerosis Hodgkin lymphoma (stage III). From the limited reports and reviews available, it is understood that advanced Hodgkin (stage III or IV) of nodular sclerosis (NS) or mixed cellularity (MC) types portend a stronger affiliation to AIHA. The majority of AIHA-associated Hodgkin lymphoma presents as stage III or IV disease with the hemolysis being the presenting symptom, as in this case. The mainstay of AIHA therapy has been corticosteroids; however, this first-line regimen appears to be less effective when treating AIHA in the setting of HL. The exact mechanism of AIHA related to HL is unclear, and it may be thought to be that tumor cell produced autoantibodies. Other hypotheses include paraneoplastic phenomena or more, perhaps immunity to tumor cells may cross-react with antigens on the red cells. Although these mechanisms require further investigation, the relationship of the AIHA and HL represents a piece to a larger puzzle between autoimmune disorders and lymphoproliferative conditions.
Deep and Prolonged Response to Aurora A Kinase Inhibitor and Subsequently to Nivolumab in MYCL1-Driven Small-Cell Lung Cancer: Case Report and Literature Review
Authors: Bhaskar C Kolla, Emilian Racila, Manish R Patel
Journal: Case Rep Oncol Med (2020)
MeSH terms: Case Reports

Small-cell lung carcinoma (SCLC) is one of the most aggressive solid tumors, and the prognosis has not improved significantly in 25 years. Despite a recent understanding of the genomic aberrations seen in SCLC, these insights have not led to any breakthroughs in treatment. We present a patient with SCLC harboring a novel MYCL1 fusion protein who experienced a prolonged disease course due to the use of Aurora A kinase inhibitor and subsequently nivolumab. MYC family genes are master regulators of several cellular pathways including proliferation, differentiation, and apoptosis and recently have been shown to be involved in tumor immune evasion. Large studies have shown that a significant proportion of patients with SCLC have amplification or overexpression of MYC family genes. Preclinical data have exposed vulnerability of MYC-driven tumors to Aurora kinase inhibitors, bromodomain and extraterminal domain inhibitors, and recently to immune checkpoint blockers. Further studies using these agents with selective enrolling of patients with MYC-altered tumors are warranted to exploit these vulnerabilities.
Cerebellar Ataxia Caused by Central Nervous System Tuberculosis With Pulmonary Tuberculosis: A Case Report
Authors: Yusuke Saishoji, Hideki Mori, Yasumori Izumi
Journal: Cureus (2023)
Keywords: ataxia, case report, central nervous system, infection, tuberculosis
MeSH terms: Case Reports

Central nervous system (CNS) tuberculosis (TB) remains a serious disease with high morbidity and mortality but is often difficult to diagnose owing to less sensitive microbiological techniques. Herein, we present a case where the main complaint was staggering gait; however, the patient was diagnosed with CNS TB associated with pulmonary TB. A woman in her 70s was admitted to our hospital with a two-month history of progressive ataxia. Cerebrospinal fluid examination showed an elevated lymphocyte count; however, cranial imaging studies did not show significant findings. However, we performed positron emission tomography-computed tomography imaging owing to suspicions of paraneoplastic syndrome, which showed substantial 18F-fluorodeoxyglucose accumulation in the lungs. A subsequent bronchoscopy exam led to a pulmonary TB diagnosis for which the patient was treated, and the patient's symptoms fully resolved. Finally, we diagnosed ataxia due to CNS TB with pulmonary TB after excluding other causes of ataxia and because of a lymphocyte-predominant increase of cells in the spinal fluid. Thus, TB infection should be considered in cases of cerebellar ataxia of unknown etiology.​​.
Intensive Hemodiafiltration Successfully Removes Ganciclovir Overdose and Largely Exceeds Reported Elimination During Hemodialysis-A Case Report and Review of the Literature
Authors: Verena Gotta, Anne Leuppi-Taegtmeyer, Mirjam Gessler, Marc Pfister, Daniel Müller, Andreas Werner Jehle
Journal: Front Pharmacol (2020)
Keywords: blood-to-plasma concentration ratio, ganciclovir, hemodiafiltration, hemodialysis, overdose, toxicity, valganciclovir
MeSH terms: Case Reports

We present the case of a kidney transplant patient (Cockroft-Gault estimated creatinine clearance 14 ml/min) who was inadvertently eight-fold overdosed with a single dose of 500 mg intravenous ganciclovir. To prevent the immunosuppressed patient from being exposed to severe risks of prolonged ganciclovir overdosing, including potentially fatal bone marrow suppression and severe neurotoxicity, the patient was treated with hemodiafiltration (HDF) to enhance drug elimination. Since the product label reports a 50% decrease of ganciclovir plasma concentrations after intermittent hemodialysis (HD), two HDF sessions were considered necessary to achieve a ≥75% elimination of the drug by precaution, despite targeted intense HDF prescription. Ganciclovir plasma concentration data were obtained during both HDF sessions and were analyzed retrospectively. Pharmacokinetic analysis revealed that prescribed HDF successfully decreased drug plasma concentrations by ≥90%. This ganciclovir reduction ratio matched the urea reduction ratio achieved (≥92%). Model-based assessment of ganciclovir dialysis clearance (estimated to be 445 ml/min), accounting for its two-compartmental kinetics, was higher than urea dialysis clearance (estimated to be 310 ml/min). This suggests potential relevant accumulation of ganciclovir into blood cells, at least in this patient after overdosing. The amount (fraction) of drug removed by 1st HDF was estimated to 269 mg (93% of total amount of 288 mg eliminated during the 1st HDF session; estimated amount in the body prior to 1st HDF: 380 mg). A literature review was performed to summarize and systematically compare available information on ganciclovir elimination during intermittent renal replacement therapy. In conclusion, the high ganciclovir HDF clearance measured in our patient largely exceeded previously reported elimination during HD, meaning that HDF prescription was highly efficient in the present case, and that a second HDF session might not have been necessary. This finding may be considered to guide renal replacement therapy in the scope of drug overdosing. It may also be evaluated for ganciclovir dose adjustment in patients on chronic HD or HDF with high small solute clearance, since a strong correlation between ganciclovir and urea elimination efficiency was observed.
Acutely Obstructed Airway Resulting from Complications of a Laryngopyocoele
Authors: Rosalind Mole, Stephen Hayes, Simon Dennis
Journal: Case Rep Surg (2017)
MeSH terms: Case Reports

Laryngocoeles are rare cystic dilatations of the laryngeal ventricle. Obstruction of its outlet can cause entrapment of mucus and superimposed infection causes a laryngopyocoele. Such presentations, although rare, have potential to cause airway obstruction. A 67-year-old lady presented with a one-week history of hoarseness and shortness of breath. On examination, she was stridulous and had fullness of the left side of the neck. Nasendoscopy revealed large bilateral vocal cord polyps and near-complete glottis obstruction. She was taken to emergency theatre for restoration of a viable airway. Upon excision of the polyps, pus was visualised originating from the laryngeal ventricle. Literature proposes that laryngocoeles develop secondary to a one-way valve caused by an obstructing lesion distorting the saccule neck. We propose that the laryngocoele developed secondary to large obstructing polyps. Urgent excision of the polyps allowed decompression of the laryngopyocoele and reestablishment of a patent airway.