OpenMed/multicare-articles huggingface dataset:
Non-arteritic Anterior Ischemic Optic Neuropathy Sequela From Potential COVID-19-Associated Coagulopathy
Authors: Sanad Naber, Nadia Alinaghizadeh, Amy Kotecha
Journal: Cureus (2024)
Keywords: covid-19, hypercoagulable state, ischemic optic neuropathy, non-arteritic anterior ischemic optic neuropathy (naion), sudden vision loss
MeSH terms: Case Reports

We report a case involving a post-menopausal female who experienced a sudden loss of peripheral vision in her right eye seven months after a confirmed COVID-19 infection. MRI scans of the brain and orbit excluded neuritis and multiple sclerosis, leading to the diagnosis of non-arteritic anterior ischemic optic neuropathy (NAION). It is known that the intense inflammatory condition resulting from acute respiratory distress syndrome triggered by SARS-CoV-2 infections can result in a heightened tendency for blood clot formation. Emerging research underscores the potential link between the likelihood of a thrombotic event in the eye as a consequence of COVID-19 infection and the development of NAION. The connection between NAION and COVID-19, whether it is correlative or coincidental, remains uncertain. However, this case report aims to present evidence for the plausibility of this link and offer insights into potential ophthalmologic complications caused by COVID-19.
Case report: Orthostatic leg tremor as the initial manifestation in a patient with metabotropic glutamate receptor-5 encephalitis without cortical dysfunction: complexities in identification and treatment
Authors: Xia Yang, Qiong Liu, Ming-Feng Lai, Xiao-Hong Ma, Xiao-Ting Hao, Jia-Jun Xu, Wan-Jun Guo
Journal: Front Neurol (2023)
Keywords: autoimmune encephalitis, mglur5, motor disorder, orthostatic leg tremor, prednisone
MeSH terms: Case Reports

Objective:
Metabotropic glutamate receptor 5 (mGluR5) encephalitis is such a rare type of autoimmune encephalitis that its diagnosis remains a challenge.
Case report:
A 19-year-old female patient initially presented with anxiety and orthostatic leg tremors without cortical dysfunction. We found that this patient was positive for mGluR5 antibodies in both serum (1:1,000) and cerebrospinal fluid (1:32). After comprehensive intervention, the patient showed complete recovery at the 18-month follow-up.
Discussion:
This report expands our knowledge of the possible presentations of mGluR5 encephalitis for early diagnosis, which makes it possible to prevent serious consequences and improve the prognosis.
Acute abdominal pain as the first symptom of Chlamydia psittaci pneumonia complicated by acute pancreatitis: a case report
Authors: Changquan Fang, Yanjun Xie, Hui Mai, Limin Xu
Journal: Front Med (Lausanne) (2023)
Keywords: chlamydia psittaci pneumonia, abdominal pain, acute pancreatitis, metagenomic next-generation sequencing, psittacosis
MeSH terms: Case Reports

Background:

Chlamydia psittaci infections primarily cause damage to the lungs but may also affect the cardiovascular system, gastrointestinal tract, liver, kidney, and brain, resulting in a variety of extrapulmonary complications. However, reports regarding C. psittaci infection-associated pancreatitis are rare. In this report, a patient with C. psittaci pneumonia complicated by acute pancreatitis is presented.
Case description:
The patient presented with acute upper abdominal pain and developed severe pyrexia and dyspnoea one day later. A chest computed tomography image revealed patchy consolidation in the left lung. The disease progressed rapidly, and the patient exhibited liver and kidney damage and type 1 respiratory failure within a short period of time. Metagenomic next-generation sequencing of alveolar lavage fluid revealed the presence of C. psittaci. The patient was administered doxycycline and moxifloxacin, after which the patient's abdominal pain and lung infection significantly resolved.
Conclusion:
This case report demonstrates that extrapulmonary C. psittaci infections due to secondary acute pancreatitis can manifest as abdominal pain, although the exact mechanisms of C. psittaci caused by acute pancreatitis remain unclear. Timely diagnoses and treatments of such infections are necessary to achieve favorable clinical outcomes.
SIGMAR1 variants in ALS-PD complex cases: a case report of a novel mutation and literature review
Authors: Haining Li, Tingting Xuan, Ting Xu, Juan Yang, Jiang Cheng, Zhenhai Wang
Journal: Front Neurol (2023)
Keywords: parkinson’s disease, sigmar1, amyotrophic lateral sclerosis, genotype, phenotype
MeSH terms: Case Reports

Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease characterized by progressive degeneration of upper and lower motor neurons, with occasional involvement of the extrapyramidal system. Mutations in the sigma non-opioid intracellular receptor 1 (SIGMAR1) gene have been identified as one of the causes of ALS. Here, we present a case of a 49-year-old man diagnosed with ALS-Parkinson's disease (PD) complex. The patient exhibited bradykinesia and tremor, and whole-exome sequencing revealed homozygous mutations in the SIGMAR1 gene (c.446-2A > T). In addition, we conducted an investigation into the clinical and molecular phenotype of previously reported variants of SIGMAR1 associated with ALS. This case report aims to raise awareness among physicians regarding atypical phenotypes of amyotrophic lateral sclerosis and to encourage further research on the factors leading to SIGMAR1 mutations in patients.
Case Report: A rare case of bilateral middle ear tophaceous gout
Authors: Aybige Camurdan, Conrad Riemann, Frank Brasch, Ingo Todt
Journal: Front Surg (2024)
Keywords: computed tomography (ct), gout, gout tophi, hearing loss, hypacusia, inflammation
MeSH terms: Case Reports

Introduction:
Hypacusia can be caused by various etiologies; however, hearing loss attributed to gouty tophi remains a rare occurrence. This case report presents, for the first time, a bilateral gouty tophi causing hearing impairment.
Case presentation:
This report describes a case study involving an 83-year-old Caucasian female patient who presented symptoms of hypacusia, pruritus, and a sensation of pressure in her right ear. A computed tomography scan revealed the presence of non-homogeneous calcified structures in both ears. Following a comprehensive assessment that included pure-tone audiometry and a thorough evaluation of the patient's clinical complaints, a tympanoplasty procedure was initially performed on the right ear. Pathological analysis revealed the presence of gouty tophi. After surgical removal of the tophus, a notable improvement in the patient's hearing threshold was observed. Four months later, a similar surgical intervention was performed on the contralateral ear, achieving a similar positive outcome. The substantial postoperative decrease of bone conduction indicates an inner ear affection by the gout tophi.
Conclusion:
Gout tophus in both ears is a very rare but possible cause of hypacusia, even in the absence of a pre-existing diagnosis of systemic gout disease. We report a case of gout tophi in both ears as a rare cause of hearing loss.
Dramatic Effect of Botox Injection in Disabling Chronic Migraine Secondary to Inoperable Cerebral Arteriovenous Malformation
Authors: Mohammed Mezaal, Malak Mohammed Abdulelah, Rawan Ahmed Mehanna
Journal: Cureus (2024)
Keywords: arteriovenous malformation (avm), botox injection, cerebral arteriovenous malformation (camv), chronic migraine, headache, pregnancy
MeSH terms: Case Reports

Arteriovenous malformation is a developmental anomaly of the vascular system characterized by arteriovenous shunt through a collection of tortuous vessels without intervening capillary bed. Brain arteriovenous malformations (AVMs) may cause hemorrhagic stroke, epilepsy, and chronic headache. Migraine with aura was reported in up to 58% of females with AVM. A 23-year-old female presented with episodes of severe left-side headache for five months, throbbing in character with photophobia, phonophobia, and nausea. Brain MRI showed a large AVM in the left cerebellar hemisphere. She was diagnosed with grade six AVM, which is inoperable, and secondary migraine. Her migraine symptoms didn't respond to oral medications. However, it responded dramatically to Botox injections. Seven days after Botox injection, her headache disappeared, and her well-being improved. Three years post-diagnosis and treatment, she got married, then three months later became pregnant. During pregnancy, she followed up with neurology, obstetrics, and gynecology. She was delivered by cesarean section to minimize the risk of intracranial hemorrhage and delivered without complications. The female patient in this case with migraine secondary to inoperable brain AVM treated with Botox; she got married and delivered by C-section without complications. This case raises the following important lessons: large AVMs can present with migraine only, and Botox has a dramatic effect on the treatment and the ability to have a safe pregnancy and delivery in large AVM cases.
Case Report: Paraneoplastic psoriasis in thymic carcinoma
Authors: Lucas Mix, Manuel Knoll, Max-Felix Häring, Wolfgang Andreas Bethge, Jan C Schröder, Stephan Forchhammer, Patrick Krumm, Christian M Schürch, Martin Schaller, Claudia Lengerke
Journal: Front Oncol (2023)
Keywords: adoc, mediastinal tumor, paraneoplastic syndrome, psoriasis, thymic carcinoma, thymic epithelial tumors
MeSH terms: Case Reports

Thymic carcinomas are exceedingly rare and very aggressive malignancies of the anterior mediastinum. While thymomas exhibit a high association with paraneoplastic syndromes, these phenomena are a rarity in thymic carcinomas. In general, acanthotic syndromes such as acroceratosis neoplastica and acanthosis nigricans maligna are commonly observed as paraneoplastic phenomena in patients with carcinomas. In contrast, psoriasis vulgaris, another acanthotic disease, rarely occurs as a paraneoplasia. We report the case of a 36-year-old patient with progressive thymic carcinoma (undifferentiated carcinoma, T3N2M1a) and paraneoplastic psoriasis occurring ten months before the initial diagnosis of the carcinoma. Over the course of the disease, new psoriatic flares heralded relapse or progression of the carcinoma. To our knowledge, this is the first reported case of paraneoplastic psoriasis in thymic carcinoma.
Identification and characterization of two novel KCNH2 mutations contributing to long QT syndrome
Authors: Anthony Owusu-Mensah, Jacqueline Treat, Joyce Bernardi, Ryan Pfeiffer, Robert Goodrow, Bright Tsevi, Victoria Lam, Michel Audette, Jonathan M Cordeiro, Makarand Deo
Journal: PLoS One (2024)
MeSH terms: ERG1 Potassium Channel / genetics, Long QT Syndrome / genetics, Case Reports, Action Potentials, Adolescent, Computer Simulation, Epithelial Cells, Female, Humans, Infant, Mutation, ERG1 Potassium Channel, KCNH2 protein, human

We identified two different inherited mutations in KCNH2 gene, or human ether-a-go-go related gene (hERG), which are linked to Long QT Syndrome. The first mutation was in a 1-day-old infant, whereas the second was in a 14-year-old girl. The two KCNH2 mutations were transiently transfected into either human embryonic kidney (HEK) cells or human induced pluripotent stem-cell derived cardiomyocytes. We performed associated multiscale computer simulations to elucidate the arrhythmogenic potentials of the KCNH2 mutations. Genetic screening of the first and second index patients revealed a heterozygous missense mutation in KCNH2, resulting in an amino acid change (P632L) in the outer loop of the channel and substitution at position 428 from serine to proline (S428P), respectively. Heterologous expression of P632L and S428P into HEK cells produced no hERG current compared to the wild type (WT). Moreover, the co-transfection of WT and P632L yielded no hERG current; however, the co-transfection of WT and S428P yielded partial hERG current. Action potentials were prolonged in a complete or partial blockade of hERG current from computer simulations which was more severe in Purkinje than ventricular myocytes. Three dimensional simulations revealed a higher susceptibility to reentry in the presence of hERG current blockade. Our experimental findings suggest that both P632L and S428P mutations may impair the KCNH2 gene. The Purkinje cells exhibit a more severe phenotype than ventricular myocytes, and the hERG current blockade renders the ventricles an arrhythmogenic substrate from computer modeling.
Case Report: Hives and faints, an unusual affair
Authors: Saket Toshniwal, Jiwan Kinkar, Sunil Kumar, Sourya Acharya, Madhukar Tikas, Isha Sahai, Benumadhab Ghosh, Suhit Naseri
Journal: F1000Res (2024)
Keywords: cholinergic urticaria, nonsedating antihistamics, sweating, syncope
MeSH terms: Syncope / diagnosis, Syncope / etiology, Urticaria / diagnosis, Case Reports, Adult, Humans, Male

Cholinergic urticaria (CholU) is a rare condition characterized by itchy hives in the form of 1-4 mm small, raised wheals on skin, which are short-lived for duration of 15 to 20 minutes; they are caused by stimuli associated with sweating such as from physical exercise. CholU is also known as cholinergic angioedema urticaria. Hereby, we present a case report of a 42-year-old male with ChoIU who presented with systemic manifestation in the form of recurrent attacks of syncope. Diagnosis was made after a detailed history taking and all cardiac and neurological evaluations done that were normal, and widespread literature research was done to rule out other causes of syncope as systemic symptoms are rarely seen in ChoIU. His IgE antibodies levels were highly increased. He was managed with nonsedating antihistamines and health education regarding the rare condition.
Allergic Contact Dermatitis Reaction to Permanent Tattoo Containing Paraphenylenediamine: A Case Report
Authors: Eliot Parascandolo, Samuel Puglisi, Miguel Marenco, Gregory Puglisi
Journal: Case Reports Immunol (2024)
Keywords: allergic contact dermatitis, paraphenylenediamine, tattoo
MeSH terms: Case Reports

Paraphenylenediamine (PPD) is a well-known culprit allergen in the literature and clinical practice. Although this has been described in temporary tattoos, the definite implication of PPD in permanent tattoos has not been described. We report a patient who developed severe allergic contact dermatitis (ACD) requiring skin grafting after receiving a permanent tattoo with ink containing PPD. A 30-year-old female with a past history of atopic dermatitis and psoriasis presented with a 2-week history of cutaneous reaction to a recent tattoo. The patient noticed inflammation and irritation of the tattoo site the day after administration. The patient was previously identified on patch testing to have a PPD allergy after evaluation for dermatitis after hair dye application. Following the tattoo placement, she applied soap and bacitracin cream which she had used several years prior on a similar tattoo. On presentation 2 weeks later, she was found to have a deep ulcerated plaque with an indurated border encompassing the area of the tattoo. She was referred to the emergency department and admitted for treatment, ultimately requiring debridement and skin grafting. The patient obtained the safety data sheets for the tattoo inks which revealed PPD as an ingredient in every color. We believe this is the first confirmed case of PPD being implicated as the causative agent for ACD to a permanent tattoo. Tattoo ink is unregulated, and formulas are proprietary which makes safe practice difficult for patients with sensitivities. We advocate for consistent ingredient labeling, regulation, and transparency within the tattoo ink industry.
Case Report: Lomustine overdose in a 15-year-old, healthy adolescent-a prescription failure
Authors: Ole Lindner, Natalia Rotari, Ayami Yoshimi, Charlotte M Niemeyer, Simone Hettmer
Journal: Front Pediatr (2024)
Keywords: adverse events, chemotherapeutic, lomustine, oncology, overdose, pediatric, prescription
MeSH terms: Case Reports

Lomustine is an oral chemotherapy drug commonly used in pediatric neuro-oncology. We report on a 15-year-old formerly healthy boy, who was erroneously prescribed lomustine instead of an antibiotic for tonsillitis. He subsequently suffered from prolonged bone marrow aplasia with secondary fever in neutropenia and ubiquitous bleeding. Bone marrow regeneration started approximately 7 weeks after lomustine intake. No other permanent organ damage has been detected thus far. Oral chemotherapeutic drugs should only be prescribed by experts and dispensed in the smallest possible pack size.
Unusual Coincidence: Concurrent Cast Nephropathy and Lymphoma Infiltration in an Influenza A-Associated Acute Kidney Injury
Authors: Wan-Ching Lee, Chun-Kuang Tsai, Szu-Yuan Li
Journal: Case Rep Nephrol (2024)
MeSH terms: Case Reports

Acute kidney injury (AKI) poses a substantial challenge in the management of lymphoma patients and is frequently associated with diverse causative factors. Herein, we report an illustrative case involving a 47-year-old male with influenza A infection who developed severe AKI, which was incongruent with his medical history. Laboratory investigations disclosed aberrant immunoglobulin levels and urinary protein excretion, prompting further evaluation. A renal biopsy revealed the presence of infiltrating lymphoid cells and cast nephropathy, raising suspicion of an underlying hematological disorder. A comprehensive diagnostic workup, including positron emission tomography imaging and bone marrow biopsy, culminated in the definitive diagnosis of splenic marginal zone lymphoma. This case highlights the crucial significance of including lymphoma-associated kidney disorders in the evaluation of unexplained AKI, particularly when encountering unconventional clinical and laboratory results. Swift and precise intervention is of utmost importance in attaining positive results in these rare and complex clinical situations. This study underscores the persistent concern of AKI in lymphoma patients, with lymphocytic infiltration and cast nephropathy as notable elements contributing to the intricate nature of this condition.
Respiratory involvement and sleep-related disorders in CMT1A: case report and review of the literature
Authors: Sara Massucco, Cristina Schenone, Elena Faedo, Chiara Gemelli, Emilia Bellone, Lucio Marinelli, Davide Pareyson, Chiara Pisciotta, Tiziana Mongini, Angelo Schenone, Marina Grandis
Journal: Front Neurol (2024)
Keywords: cmt, cmt1a, charcot–marie–tooth disease, respiratory disorders, sleep apnea, sleep disorders
MeSH terms: Review

Sleep-disordered breathing has been reported in Charcot-Marie-Tooth disease (CMT) type 1A in association with diaphragmatic weakness and sleep apnea syndrome, mainly of the obstructive type (OSA). Improvement has been observed not only in sleep quality but also in neuropathy symptoms in CMT1A patients with OSA following the initiation of continuous positive airway pressure. We report the cases of two siblings affected by CMT1A associated with hemidiaphragm relaxatio necessitating nocturnal non-invasive ventilation (NIV). Two twins, now 42 years old, with a family history of CMT1A, received a genetic diagnosis of CMT1A at the age of 16. Over the years, they developed a slowly worsening gait disorder and a decline in fine motor hand movements, currently presenting with moderate disability (CMTES:13). At the age of 40, they both started complaining of daytime sleepiness, orthopnea, and exertional dyspnea. They received a diagnosis of relaxatio of the right hemidiaphragm associated with impairment of nocturnal ventilation and they both have benefited from nocturnal NIV. Disorders of breathing during sleep may be underestimated in CMT1A since routine investigations of sleep quality are rarely performed. Our two clinical cases and a literature review suggest the importance of inquiring about symptoms of excessive daytime sleepiness and respiratory disturbances in individuals with CMT1A, even in the absence of severe neuropathy. In the presence of compatible symptoms, a pneumological assessment, along with an overnight polysomnogram and lung function tests, should be performed. Recognizing sleep-related symptoms is essential for providing accurate treatment and improving the quality of life for patients with CMT1A.
A Unique Case of COVID-19 Presenting as Focal Seizures With Impaired Awareness
Authors: Rupam Sharma, Samantha Ratnayake, Hobart Lai, Shikha Mishra, Arash Heidari
Journal: J Investig Med High Impact Case Rep (2023)
Keywords: covid-19 complications, sars-cov-2, electroencephalography, seizures/etiology
MeSH terms: COVID-19 / complications, Encephalitis, Viral / diagnosis, Case Reports, Humans, RNA, Viral, SARS-CoV-2, Seizures / etiology, RNA, Viral

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has very rapidly become a global pandemic with millions of confirmed cases worldwide. In early 2021, viral encephalitis was the first neurological complication associated with COVID-19 and since then rise in cases has been reported with this association. A review highlighting 3 potential mechanisms linking a correlation between seizures and COVID-19 was previously reported. Herein described is a unique case of SARS-CoV2 infection that presented with focal seizure with impaired awareness.
Rehabilitation of a Patient With D12 Wedge Compression Fracture and Bilateral Foot Drop With Spinal Fusion and Posterior Decompression: A Case Report
Authors: Shruti S Bhoge, Vrushali Athawale, Tejaswini Fating
Journal: Cureus (2024)
Keywords: case report, contract-relax, foot drop, osteoporotic vertebral compression fracture (ovcf), physiotherapy, posterior decompression, spinal fusion, treatment, vertebral fracture, vertebral wedge compression fracture
MeSH terms: Case Reports

Vertebral fracture (VF) is one of the most common injuries seen in individuals with osteoporosis, especially in post-menopausal females. There is an increase in bone resorption rate, leading to the destruction of the microarchitecture of bone. A 67-year-old female patient diagnosed with wedge compression fracture of the D12 vertebra, mild compression of the spinal cord, and bilateral foot drop came to a tertiary care hospital, where she underwent spinal fusion at the D11-L1 level and posterior decompression, after which she was referred to physiotherapy, where a patient-tailored treatment protocol was made and implemented over three weeks. Outcome measures like the visual analog scale (VAS), functional independence measure (FIM), and Oswestry's low back disability questionnaire were recorded before and after rehabilitation, and improvement in pain and activities of daily living (ADL) was found. The patient needed mild assistance. There was also improvement in the range and strength of the lower limb muscles. This case report aims to provide a comprehensive treatment protocol for a post-operative spinal fusion and bilateral foot drop patient.