OpenMed/multicare-articles huggingface dataset:
Surgical Management of Familial Trigeminal Neuralgia With Different Inheritance Patterns: A Case Report
Authors: Claudia Cervera-Martinez, Jose J Martinez-Manrique, Rogelio Revuelta-Gutierrez
Journal: Front Neurol (2018)
Keywords: arachnoid adhesions, familial, inheritance patterns, microvascular decompression, trigeminal neuralgia
MeSH terms: Case Reports

Introduction:
Trigeminal neuralgia is a disorder characterized by unilateral electric shock-like pain, distributed in one or more trigeminal nerve branches and triggered by usually innocuous stimuli. Among the few case reports and literature reviews on familial trigeminal neuralgia (FTN), the results of several suggest the involvement of genes associated with biochemical alterations or atherosclerotic vascular malformations.
Background:
We present four cases of FTN within two families (family A: two brothers; family B: two sisters). All patients were submitted to surgical treatment by the same surgeon.
Discussion:
Cases 1 and 2 (family A) exhibited FTN with an uncommon autosomal recessive pattern and clinical features consistent with previous literature reviews and case reports. However, in cases 3 and 4 (family B), we found FTN with a dominant autosomal pattern and an unusual physiopathology characterized by arachnoid adhesions.
Conclusion:
We conclude, in this case report, that there are several inheritance patterns as well as physiopathology that may be involved in FTN, and that both patterns described in our reported cases were successfully managed with surgery.
Plasmapheresis Responsive Rapid Onset Dementia with Predominantly Frontal Dysfunction in the Context of Hashimoto's Encephalopathy
Authors: Dominique Endres, Magnus S Vry, Petra Dykierek, Anne N Riering, Eva Lüngen, Oliver Stich, Rick Dersch, Nils Venhoff, Daniel Erny, Irina Mader, Philipp T Meyer, Ludger Tebartz van Elst
Journal: Front Psychiatry (2017)
Keywords: hashimoto’s encephalopathy, sreat, frontotemporal dementia, plasmapheresis, thyroid
MeSH terms: Case Reports

Background:
Hashimoto's encephalopathy (HE) is a rare immunological neuropsychiatric disorder characterized by increased antithyroid antibodies and mixed neurological and psychiatric symptoms. HE has been previously discussed as a differential diagnosis for rapid progressive dementia. However, most of these patients suffered from additional neurological symptoms, like ataxia or seizures.
Case presentation:
Here, we present the case of a 59-year-old female patient suffering rapid onset dementia with salient frontal executive dysfunction. She developed rapid onset symptoms, including apathy, verbal depletion up to a stuporous state, severe working memory deficits, evidence of primitive reflexes, disturbed Luria's three-step test, and micturition disorder. Analysis of her cerebrospinal fluid was normal. The serum analyses showed increased antithyroid (antithyroid peroxidase and antithyroglobulin) antibodies. In the cerebral magnetic resonance imaging, supratentorial deep and peripheral white matter lesions were found; the electroencephalography showed intermittent slowing, and the [18F]fluorodeoxyglucose positron emission tomography (FDG-PET) depicted medial and superior dorsolateral frontal hypometabolism. Several different psychopharmacological therapeutic approaches with various neuroleptics, antidepressants, and high doses of lorazepam were unsuccessful. Due to the organic alterations, including increased antithyroid antibodies, HE was suspected. Against expectations, treatment with high-dose corticosteroids proved to be ineffective and was associated with worsening symptoms. However, escalated treatment with plasmapheresis over 5 days led to significant improvement in all reported symptoms and in psychometric testing. The neuropsychological improvement was stable over a 6-month follow-up period, and the FDG-PET normalized.
Conclusion:
This case report reveals that (1) HE can mimic rapid onset dementia with predominantly frontal dysfunction; (2) this syndrome can be successfully treated in the context of HE; and (3) plasmapheresis can be effective in such a disease constellation. The detection of the immunological causes of rapid onset dementia and other psychiatric syndromes is important because it opens opportunities for new, innovative immunosuppressive treatment options.
Extracranial Vertebral Artery-Internal Jugular Vein-Spinal Vein Fistula in Neurofibromatosis Type I: Case Report and Literature Review
Authors: Jiarui Chen, Tuo Liang, Jiemei Cen, Jie Jiang, Tianyou Chen, Hao Li, Chong Liu, Jing Chen, Xinli Zhan
Journal: Front Neurol (2022)
Keywords: arteriovenous fistulas, embolization, fistula, interventional therapy, neurofibromatosis type i
MeSH terms: Case Reports

Background:
A cervical arteriovenous fistula (AVF) in neurofibromatosis type I (NF-1) is uncommon, and it brings challenges and difficulty in treatment.
Case presentation:
A 39-year-old woman was diagnosed with an NF-1-associated spontaneous vertebral artery-internal jugular vein-spinal vein fistula. The fistula was placed by coil embolization. Postoperative examination showed that the fistula closure was satisfied, and the patient's abnormal clinical manifestation disappeared without any complications after 24 months of interventional embolization. As per the literature, interventional embolization is currently the main treatment method, and it has the distinguishing features of less trauma, quick recovery, and a good prognosis.
Conclusion:
NF-1 associated with a spontaneous arteriovenous fistula is rare in clinical practice, which carries significant challenges in treatment, but can be effectively treated using endovascular embolism. Endovascular embolism could be the potential choice of treatment in NF-1 associated with AVF.
Possible association of etanercept, venous thrombosis, and induction of antiphospholipid syndrome
Authors: Shanti Virupannavar, Anthony Brandau, Carla Guggenheim, Heather Laird-Fick
Journal: Case Rep Rheumatol (2014)

Tumor necrosis factor α (TNF α ) inhibitors are commonly used for treatment of aggressive rheumatoid arthritis and other rheumatic diseases. Etanercept is one of the medications approved for treatment of rheumatoid arthritis. Though many studies have documented the safety and efficacy of these medications, evidence for adverse effects is emerging including cancer, infections, and cardiovascular disease. There have been studies showing that these medications induce autoantibody production, including antinuclear antibodies and anti-dsDNA antibodies. Limited data exists, however, regarding induction of antiphospholipid antibodies (APLs) by TNF α inhibitors, including anticardiolipin antibodies (ACLs), lupus anticoagulant (LAC), and anti- β 2-glycoprotein I (anti- β 2 GPI), or an association between antibody development and clinical manifestations. In this case series, we describe five patients who developed venous thromboembolism (VTE) and APLs while receiving etanercept therapy. All five of our patients met the criteria for diagnosis of APS after receiving etanercept. Our case series supports the association between etanercept, APLs, and VTE. We believe that testing for APLs prior to initiation of anti-TNF therapy is reasonable, given this relationship and the risks associated with VTE.
Papillary Thyroid Carcinoma as a Lateral Neck Cyst: A Cystic Metastatic Node versus an Ectopic Thyroid Tissue
Authors: Frhana Rahmat, Ananth Kumar Marutha Muthu, Navarasi S Raja Gopal, Soh Jo Han, Azura Sharena Yahaya
Journal: Case Rep Endocrinol (2018)
MeSH terms: Case Reports

Papillary thyroid carcinoma is the most common thyroid malignancy and frequently metastasizes to regional lymph nodes. Occasionally, metastatic lymph nodes are palpable without the evidence of primary tumour. Papillary thyroid carcinoma of lateral neck cyst is a rare condition. It may arise from thyroid primary which underwent cystic degeneration or true malignant transformation of ectopic thyroid tissue. Herein, we reported two cases with preoperative diagnosis of benign lateral neck cyst but postoperative histopathological results showed primary papillary thyroid carcinoma. Ultrasonography and computed tomography of the neck in both cases showed no significant thyroid lesion. However, the patient in Case 2 was subjected for total thyroidectomy and histopathological results showed the origin of primary tumour. In conclusion, thorough investigations including total thyroidectomy are indicated in cases of papillary thyroid carcinoma of lateral neck cyst. This practice is to ensure that this type of thyroid cancer can be detected earlier because it has a very good prognosis if treated earlier.
Triggered episodic vestibular syndrome and transient loss of consciousness due to a retrostyloidal vagal schwannoma: a case report
Authors: Maritta Spiegelberg, Ekin Ermiş, Andreas Raabe, Alexander Andrea Tarnutzer
Journal: Front Neurol (2023)
Keywords: case report, dizziness, dysphagia, radiotherapy, transient loss of consciousness
MeSH terms: Case Reports

Background:
Various conditions may trigger episodic vertigo or dizziness, with positional changes being the most frequently identified condition. In this study, we describe a rare case of triggered episodic vestibular syndrome (EVS) accompanied by transient loss of consciousness (TLOC) linked to retrostyloidal vagal schwannoma.
Case description:
A 27-year woman with known vestibular migraine presented with a 19-month history of nausea, dysphagia, and odynophagia triggered by swallowing food and followed by recurrent TLOC. These symptoms occurred independently of her body position, resulting in a weight loss of 10 kg within 1 year and in an inability to work. An extensive cardiologic diagnostic work-up undertaken before she presented to the neurologic department was normal. On the fiberoptic endoscopic evaluation of swallowing, she showed a decreased sensitivity, a slight bulging of the right lateral pharyngeal wall, and a pathological pharyngeal squeeze maneuver without any further functional deficits. Quantitative vestibular testing revealed an intact peripheral-vestibular function, and electroencephalography was read as normal. On the brain MRI, a 16 x 15 x 12 mm lesion in the right retrostyloidal space suspicious of a vagal schwannoma was detected. Radiosurgery was preferred over surgical resection, as resection of tumors in the retrostyloid space bears the risk of intraoperative complications and may result in significant morbidity. A single radiosurgical procedure (stereotactic CyberKnife radiosurgery, 1 x 13Gy) accompanied by oral steroids was performed. On follow-up, a cessation of (pre)syncopes was noted 6 months after treatment. Only residual infrequent episodes of mild nausea were triggered by swallowing solid food remained. Brain MRI after 6 months demonstrated no progression of the lesion. In contrast, migraine headaches associated with dizziness remained frequent.
Discussion:
Distinguishing triggered and spontaneous EVS is important, and identifying specific triggers by structured history-taking is essential. Episodes being elicited by swallowing solid foods and accompanied by (near) TLOC should initiate a thorough search for vagal schwannoma, as symptoms are often disabling, and targeted treatment is available. In the case presented here, cessation of (pre)syncopes and significant reduction of nausea triggered by swallowing was noted with a 6-month delay, illustrating the advantages (no surgical complications) and disadvantages (delayed treatment response) of first-line radiotherapy in vagal schwannoma treatment.
Delayed diagnosis of homocystinuria presenting with coronavirus disease 2019 in a 17-year-old boy
Authors: Nurhayat Yakut, Behzat Tuzun, Nurcan Ucuncu Ergun
Journal: Rev Soc Bras Med Trop (2022)
MeSH terms: COVID-19, Homocystinuria / complications, Homocystinuria / diagnosis, Case Reports, Adolescent, COVID-19 Testing, Delayed Diagnosis, Humans, Male

Homocystinuria is a treatable autosomal recessive inherited disorder. This condition may cause life-threatening complications such as thromboembolic events. Coronavirus disease 2019 (COVID-19) is associated with an increased risk of venous thromboembolic events. Here, we report a case of late diagnosis of homocystinuria presenting with deep venous thrombosis and COVID-19. This study highlights a sustained high index of suspicion for homocystinuria to prevent severe thromboembolic complications.
Pigmentation of the cornea secondary to tinted soft contact lens wear
Authors: Natasha Spiteri, Anshoo Choudhary, Stephen Kaye
Journal: Case Rep Ophthalmol Med (2012)
MeSH terms: Case Reports

Purpose. To report a case of pigmented corneal iron lines following use of tinted soft contact lenses (CL). Methods. A retrospective case report. Results. A 16-year-old girl was referred with suspected CL-related keratopathy OU, having recently switched to tinted soft monthly disposable CLs (8.4/14.0 -3.00 OD, -3.25 OS Aquamarine SofLens Natural Colours, Bausch and Lomb, New York, USA). Both corneas exhibited symmetric superficial corneal pigmented iron lines, which gradually disappeared following discontinuation of CL wear. Conclusions. Pigmented corneal rings have been reported in normal ageing corneas, in certain pathological conditions, and in association with altered corneal topography following LASIK and orthokeratology. We suspect a poorly fitting CL resulted in localised tear pooling between the CL and cornea, and subsequent iron pigment deposition, similar to that seen with orthokeratology. Cosmetic CLs bought via the Internet can be used in an unsupervised manner, with possible impacts on visual function and potential complications.
Mucin-1 Gene Mutation and the Kidney: The Link between Autosomal Dominant Tubulointerstitial Kidney Disease and Focal and Segmental Glomerulosclerosis
Authors: H Trimarchi, M Paulero, T Rengel, I González-Hoyos, M Forrester, F Lombi, V Pomeranz, R Iriarte, A Iotti
Journal: Case Rep Nephrol (2018)
MeSH terms: Case Reports

Glomerular diseases are one of the most frequent causes of chronic kidney disease, focal and segmental glomerulosclerosis being one of the commonest glomerulopathies. However, the etiology of this glomerular entity, which merely depicts a morphologic pattern of disease, is often not established and, in most of the patients, remains unknown. Nephrologists tend to assume focal and segmental glomerulosclerosis as a definitive diagnosis. However, despite the increasing knowledge developed in the field, genetic causes of glomerular diseases are currently identified in fewer than 10% of chronic kidney disease subjects. Moreover, unexplained familial clustering among dialysis patients suggests that genetic causes may be underrecognized. Secondary focal and segmental glomerulosclerosis due to genetic mutations mainly located in the podocyte and slit diaphragm can occur from childbirth to adulthood with different clinical presentations, ranging from mild proteinuria and normal renal function to nephrotic syndrome and renal failure. However, this histopathological pattern can also be due to primary defects outside the glomerulus. The present report illustrates an adult case of secondary focal and segmental glomerulosclerosis with a dominant tubulointerstitial damage that led to the pursue of its cause at the tubular level. In this patient with an undiagnosed family history of adult kidney disease, a genetic study unraveled a mutation in the mucin-1 gene and a final diagnosis of adult dominant tubular kidney disease-MUC1 was made.
Autosomal recessive IL12RB1 mutation: A case report of a Sudanese child and his father
Authors: Omaima Abdelmajeed, Muna Mohammed Dawoud Ali, Nahla Hashim Erwa, Alamin Mustafa, Yassin Abdelraheem Ahmed, Rogaia Hasap Alrasoul Ahmed, Hala Hamza Eltayeb Mohammed, Malaz Elsadeg Hassan, Monzir Ahmed, Shima Algam
Journal: Front Immunol (2023)
Keywords: il12rb1 mutation, mendelian susceptibility to mycobacterial diseases, bacille calmette–guérin (bcg) vaccine, immunology, tuberculosis
MeSH terms: Genetic Predisposition to Disease, Mycobacterium Infections / genetics, Case Reports, BCG Vaccine, Child, Fathers, Humans, Male, Mutation, Receptors, Interleukin-12 / genetics, BCG Vaccine, IL12RB1 protein, human, Receptors, Interleukin-12

Introduction:
Mendelian susceptibility to mycobacterial disease (MSMD) is a rare inherited condition characterized by selective susceptibility to weakly virulent mycobacteria, such as substrains of the bacille Calmette-Guérin (BCG) vaccine and different environmental mycobacteria.
Case presentation:
A 7-year-old Sudanese boy was referred to the immunology clinic with a suspected diagnosis of MSMD. This followed multiple presentations with disseminated tuberculosis and typhoid fever. Genetic testing surprisingly revealed pathogenic homozygous variants in IL12RB1 Exon 9, c.913A>T (p. Lys305*) in both the patient and his father, with a completely healthy asymptomatic carrier mother who is not blood related to the patient's father.
Conclusion:
It is challenging to diagnose MSMD, especially in developing countries where health systems are poor and have limited resources. Family history and genetic tests may help in early MSMD treatment and avoiding disease complications.
Use of i-scan Endoscopic Image Enhancement Technology in Clinical Practice to Assist in Diagnostic and Therapeutic Endoscopy: A Case Series and Review of the Literature
Authors: Shawn Hancock, Erik Bowman, Jyothiprashanth Prabakaran, Mark Benson, Rashmi Agni, Patrick Pfau, Mark Reichelderfer, Jennifer Weiss, Deepak Gopal
Journal: Diagn Ther Endosc (2012)

Background. i-scan is a software-driven technology that allows modifications of sharpness, hue, and contrast to enhance mucosal imaging. It uses postimage acquisition software with real-time mapping technology embedded in the endoscopic processor. Aims. To review applications of i-scan technology in clinical endoscopic practice. Methods. This is a case series of 20 consecutive patients who underwent endoscopic procedures where i-scan image enhancement algorithms were applied. The main outcome measures were to compare mucosal lesions with high-definition white light endoscopy (HD-WLE) and i-scan image enhancement for the application of diagnostic sampling and therapy. Results. 13 cases involving the upper GI tract and 7 cases of the lower GI tract are included. For upper GI tract pathology i-scan assisted in diagnosis or therapy of Barrett's esophagus with dysplasia, esophageal adenocarcinoma, HSV esophagitis, gastric MALT lymphoma, gastric antral intestinal metaplasia with dysplasia, duodenal follicular lymphoma, and a flat duodenal adenoma. For lower GI tract pathology i-scan assisted in diagnosis or therapy of right-sided serrated adenomas, flat tubular adenoma, rectal adenocarcinoma, anal squamous cell cancer, solitary rectal ulcer, and radiation proctitis. Conclusions. i-scan imaging provides detailed topography of mucosal surfaces and delineates lesion edges, which can directly impact endoscopic management.
Stroke as the Sole Manifestation of Takayasu Arteritis in a 15-Year-Old Boy with Latent Tuberculosis
Authors: Espen Benjaminsen, Anne Reigstad, Vanja Cengija, Vibke Lilleby, Maria Carlsson
Journal: Case Rep Neurol Med (2016)

Introduction. Takayasu arteritis is a rare disease affecting the aorta and its main branches, causing arterial claudication and end-organ ischemia, including stroke. The etiology is unknown but is believed to be autoimmune. An association between Takayasu arteritis and tuberculosis has been suggested, but the possible relation is unclear. Case Presentation. A 15-year-old Somali boy was diagnosed with latent tuberculosis. He had a lesion in the right lung, and both the tuberculin skin test by the Mantoux method and Quantiferon GOLD test turned out positive. After he suffered a cerebral infarct in the right hemisphere, childhood Takayasu arteritis was diagnosed. The diagnosis was based on diagnostic imaging showing a high-grade stenosis of the origin of the right common carotid artery, an occluded common carotid artery on the left side, a circumferential thickening of the vessel walls in the right and left common carotid artery, and laboratory findings with elevated C-reactive protein. Conclusion. Takayasu arteritis is an uncommon cause of stroke. It should however be kept in mind as a cause of cerebrovascular disease, especially in the young.
Large tender abdominal aortic aneurysm presented with concomitant acute appendicitis: a case report
Authors: Ahmad Al Samaraee, James McCaslin, Vish Bhattacharya
Journal: Cases J (2009)

Introduction:
The management of concurrently occurring abdominal aortic aneurysm and another intra-abdominal pathology is controversial and represents a difficult management problem for the surgeon. Most surgeons are reluctant to perform a second non vascular procedure at the time of the aneurysm repair because of the risk of graft infection. Some evidence suggests that the one-stage elective surgical treatment in selected patients with concomitant abdominal aortic aneurysm and other pathologies; especially Gastro-Intestinal malignancies, is safe with superior cost effectiveness. However, there is a major dilemma in the management patients with large aneurysm which require an urgent repair and presented with concomitant pathologies that carry a high risk of sepsis. In this case report, we describe an unusual presentation of a large aneurysm with concomitant Acute Appendicitis where both needed an urgent surgical intervention. To our best knowledge, there has been no similar case report published in literature.
Case report:
A 66 years old Caucasian male presented with a dual pathology of large abdominal aortic aneurysm and acute appendicitis. The diagnosis was confirmed by Computerized Tomography scan of his abdomen. He underwent a 2-stage operation; open Appendicectomy followed by open repair of his aneurysm to avoid the risk of graft infection. He had an uneventful recovery period with a full return to normal life.
Conclusion:
The incidence of patients with abdominal aortic aneurysm and coexistent intra-abdominal surgical pathology is increasing, and the surgical strategy for those patients remains controversial. There are not enough studies that looked directly into the management of large abdominal aortic aneurysm which require an urgent repair and presented with concomitant pathologies that carry a high risk of sepsis. In such situations, simultaneous operations should be avoided because of the risk of prosthetic graft infection and priority should be given to the symptomatic or most life threatening condition. The second pathology should be dealt with as soon as possible; preferably within the same admission. More studies are needed to look into this issue; however, this would be rather difficult because of the uncommon and complex nature of such presentations.