OpenMed/multicare-articles huggingface dataset:
Unusual presentation of a colonic sarcoidosis
Authors: Sami Daldoul, Wissem Triki, Kaouther El Jeri, Abdeljelil Zaouche
Journal: Case Rep Med (2012)
MeSH terms: Case Reports

Sarcoidosis is a multisystemic disorder of unknown cause that affects almost every tissue in the body. Colon is an extremely rare location of this disease. Clinical presentation, endoscopic appearances, and radiologic findings are not specific and may mimic much other affection. We report the case of a 64-year-old woman with inactive pulmonary sarcoidosis who presented alternating constipation and diarrhea. Colonoscopy revealed a stenotic tumor in the ascending colon. Histology failed to determine the nature of the lesion. Radiologic findings are those of a long stenotic tumor of the ascending colon associated with a multiple satellite lymphadenopathy. Endoscopic and radiologic descriptions are highly suggestive of a malignancy. The patient underwent a laparotomy, and a right hemicolectomy was performed. Examination of the resected specimen showed follicular structure with central epitheloid and giant cells and surrounding fibroblasts. These findings made the diagnosis of colonic sarcoidosis. The nonspecificity of the endoscopic and radiological signs of gastrointestinal sarcoidosis and the extreme rarity of colonic location make the preoperative diagnosis unlikely. The diagnosis will be then made only on histological examination of surgical specimens. We describe, through this observation, the results of paraclinical investigations that can suggest diagnosis and perhaps avoid surgery.
Dystrophic calcinosis cutis associated with systemic lupus erythematosus: a case report
Authors: Filipa Costa Sousa, Mariana Figueiras, Ana Rita Parente, Sónia Santos, Mafalda Miranda, Mónica Teixeira, Teresa Mendonça
Journal: Pan Afr Med J (2021)
Keywords: dystrophic calcinosis cutis, calcium channel blockers, case report, systemic lupus erythematosus
MeSH terms: Autoimmune Diseases / complications, Calcinosis / complications, Calcinosis / etiology, Connective Tissue Diseases / complications, Lupus Erythematosus, Systemic / complications, Lupus Erythematosus, Systemic / diagnosis, Lupus Erythematosus, Systemic / pathology, Skin Diseases / diagnosis, Skin Diseases / etiology, Case Reports, Female, Humans, Middle Aged

Calcinosis cutis is a rare and potentially disabling condition characterized by calcium deposition in soft tissues. When associated with autoimmune connective tissue diseases, calcinosis cutis is classified as Dystrophic Calcinosis Cutis (DCC), being its occurrence in systemic lupus erythematosus (SLE) patients fairly uncommon. We report a case of DCC in a 49 years old woman with eleven years evolution SLE that presented with a two years history of multiple painful skin lesions, some of them ulcerated and exhibiting a chalky white-yellow floor, in both hands, forearms, thighs, buttocks, abdomen and left breast. The pelvic X-ray showed soft tissue calcifications and the skin biopsy confirmed the diagnosis of DCC. The patient was treated with diltiazem 240mg/day and a significant regression of the lesions and associated pain was observed. Dystrophic calcinosis cutis is often a painful and disrupting condition in which timely diagnosis and treatment may be quite challenging.
Methimazole-induced myositis: a case report and review of the literature
Authors: R Bou Khalil, M Abou Salbi, S Sissi, N El Kara, E Azar, M Khoury, G Abdallah, J Hreiki, S Farhat
Journal: Endocrinol Diabetes Metab Case Rep (2013)

Methimazole is an anti-thyroid drug commonly used to treat hyperthyroidism and is a relatively safe medication. Several side effects have been reported and usually develop within 3 months of therapy. Well-known adverse reactions include agranulocytosis, hepatitis, skin eruptions, and musculoskeletal complaints such as myalgia, arthralgia, and arthritis. So far, myositis secondary to carbimazole was described in the context of a lupus-like syndrome or other rare cases of anti-neutrophil cytoplasmic antibodies-associated vasculitis. Methimazole-induced myositis occurring independently of such reactions was rarely stated. We report a patient with hyperthyroidism who, early after therapy with methimazole, developed hepatitis, eosinophilia, and fever that resolved completely after stopping the medication as well as a delayed onset of biopsy-proven eosinophilic myositis and fasciitis of gluteal muscles that resolved eventually without any additional therapy. Therefore, we raise the awareness regarding a rare side effect of methimazole: myositis.
Learning points:
Several differential diagnoses arise when managing a hyperthyroid patient with muscle complaints.Both hyperthyroidism and methimazole are associated with myositis.Methimazole-induced myositis is a rare clinical entity.Resolution of symptoms may occur after stopping methimazole.
Case Report: Lung adenocarcinoma associated with germline ERCC2 frameshift mutation
Authors: Lili Liu, Jia Cui, Siye Liu, Evenki Pan, Limin Sun
Journal: Front Oncol (2023)
Keywords: ercc2 frameshift mutation, family history, germline mutation, lung adenocarcinoma, next-generation sequencing
MeSH terms: Case Reports

Family history is an established risk factor for lung cancer. Previous studies have found that germline genetic alterations, such as those in EGFR, BRCA1, BRCA2, CHEK2, CDKN2A, HER2, MET, NBN, PARK2, RET, TERT, TP53, and YAP1, are associated with an increased risk of developing lung cancer. The study reports the first of a lung adenocarcinoma proband with germline ERCC2 frameshift mutation c.1849dup (p. A617Gfs*32). Her family cancer history review demonstrated that her two healthy sisters, a brother with lung cancer, and three healthy cousins were positive for ERCC2 frameshift mutation, which might contribute to increased cancer risk. Our study highlights the necessity of performing comprehensive genomic profiling in discovering rare genetic alterations, early cancer screening, and monitoring for patients with family cancer history.
Osimertinib as treatment for EGFR exon 20 insertion-positive lung adenocarcinoma
Authors: Chihiro Murano, Akira Igarashi, Keiko Yamauchi, Sumito Inoue, Masafumi Watanabe
Journal: EXCLI J (2019)
Keywords: egfr exon 20 insertion gene mutation, adenocarcinoma, lung cancer, osimertinib
MeSH terms: Case Reports

A 20-year-old woman was diagnosed with stage 4 lung adenocarcinoma with an epidermal growth factor receptor (EGFR) exon 20 insertion gene mutation. Although the patient underwent chemotherapy, her lesions progressed. Liquid biopsy for EGFR T790M mutation showed negative results. After administering osimertinib, reduction of the lesions at the primary site was observed, and the patient's respiratory condition improved. Previous reports showing successful treatment of EGFR exon 20 insertion-positive lung adenocarcinoma with the standard osimertinib dose of 80 mg are limited. The present case demonstrated that osimertinib could be a possible treatment option for EGFR exon 20 insertion-positive lung adenocarcinoma.
Diabetes Mellitus Secondary to Acute Pancreatitis in a Child with Wolf-Hirschhorn Syndrome
Authors: Asma Deeb
Journal: Case Rep Endocrinol (2017)
MeSH terms: Case Reports

Wolf-Hirschhorn Syndrome (WHS) is a rare genetic disease caused by deletion in the short arm of chromosome 4. It is characterized by typical fascial features and a varying degree of intellectual disabilities and multiple systemic involvement. Epidemiological studies confirmed the association of acute pancreatitis with the development of diabetes. However, this association has not been reported in WHS. We report an 18-year-old girl with WHS who presented acutely with nonketotic Hyperglycemic Hyperosmolar Status (HHS) in association with severe acute pancreatitis. Her presentation was preceded by febrile illness with preauricular abscess. She was treated with fluids and insulin infusion and remained on insulin 18 months after presentation. Her parents are cousins and the mother was diagnosed with type 2 diabetes. She had negative autoantibodies and no signs of insulin resistance and her monogenic diabetes genetic testing was negative. Microarray study using WHS probe confirmed deletion of 4p chromosome. Acute pancreatitis is uncommon in children and development of diabetes following pancreatitis has not been reported in WHS. HHS is considerably less frequent than diabetes ketoacidosis in children. We highlight the complex presentation with HHS and acute pancreatitis leading to diabetes that required long term of insulin treatment.
Acute Polyradiculomyelitis With Spinal Cord Gray Matter Lesions: A Report of Two Cases
Authors: Charidimos Tsagkas, Maria Janina Wendebourg, Matthias Mehling, Johannes Lorscheider, Philippe Lyrer, Bernhard Friedrich Décard
Journal: Front Neurol (2021)
Keywords: aidp, mri, clinical neurology, guillain-barre syndrome, myelopathy, peripheral neuropathology, spinal cord gray matter lesions
MeSH terms: Case Reports

Objective: Inflammatory polyradiculomyelitis belongs to a rare group of immune-mediated diseases affecting both the central and peripheral nervous system. We aimed to describe an unusual presentation of acute polyradiculomyelitis with marked spinal cord lesions restricted to the gray matter. Methods: Thorough examination of two case reports including clinical, MRI, serologic, electrophysiologic and CSF examinations as well as short-term follow-up. Results: We present two adult patients with acute polyradiculomyelitis and unusual spinal cord lesions restricted to the gray matter on MRI. The clinical presentation, serologic, electrophysiologic and CSF features of the two patients varied, whereas both patients demonstrated severe, asymmetrical, predominantly distal, motor deficits of the lower extremities as well as bladder and bowel dysfunction. Both patients only partially responded to anti-inflammatory treatment. Severe motor impairment and bladder dysfunction persisted even months after symptom onset. Conclusions: To our best of knowledge, these are the first reports of acute polyradiculomyelitis with distinct involvement of the lower thoracic spinal cord gray matter. Currently, it remains unclear whether gray matter lesions reflect a separate pathophysiologic mechanism or an exceedingly rare presentation of spinal cord involvement in acute polyradiculomyelitis.
A SLC16A1 Mutation in an Infant With Ketoacidosis and Neuroimaging Assessment: Expanding the Clinical Spectrum of MCT1 Deficiency
Authors: Sara Al-Khawaga, Jehan AlRayahi, Faiyaz Khan, Saras Saraswathi, Reem Hasnah, Basma Haris, Idris Mohammed, Essam M Abdelalim, Khalid Hussain
Journal: Front Pediatr (2019)
Keywords: mct1, slc16a1, gray matter disease, heterotopia, hypoglycemia, ketoacidosis, white matter disease
MeSH terms: Case Reports

The solute carrier family 16 member 1 (SLC16A1) gene encodes for monocarboxylate transporter 1 (MCT1) that mediates the movement of monocarboxylates, such as lactate and pyruvate across cell membranes. Inactivating recessive homozygous or heterozygous mutations in the SLC16A1 gene were described in patients with recurrent ketoacidosis and hypoglycemia, a potentially lethal condition. In the brain where MCT1 is highly localized around axons and oligodendrocytes, glucose is the most crucial energy substrate while lactate is an alternative substrate. MCT1 mutation or reduced expression leads to neuronal loss due to axonal degeneration in an animal model. Herein, we describe a 28 months old female patient who presented with the first hypoglycemic attack associated with ketoacidosis starting at the age of 3 days old. Whole exome sequencing (WES) performed at 6 months of age revealed a c.218delG mutation in exon 3 in the SLC16A1 gene. The variant is expected to result in loss of normal MCT1 function. Our patient is amongst the youngest presenting with MCT1 deficiency. A detailed neuroimaging assessment performed at 18 months of age revealed a complex white and gray matter disease, with heterotopia. The threshold of blood glucose to circumvent neurological sequelae cannot be set because it is patient-specific, nevertheless, neurodevelopmental follow up is recommended in this patient. Further functional studies will be required to understand the role of the MCT1 in key tissues such as the central nervous system (CNS), liver, muscle and ketone body metabolism. Our case suggests possible neurological sequelae that could be associated with MCT1 deficiency, an observation that could facilitate the initiation of appropriate neurodevelopmental follow up in such patients.
Measles outbreak: preliminary report on a case series of the first 8,070 suspected cases, Manaus, Amazonas state, Brazil, February to November 2018
Authors: Guilherme Almeida Elidio, Giovanny Vinícius Araújo de França, Flávia Caselli Pacheco, Marinélia Martins Ferreira, Jair Dos Santos Pinheiro, Eliane Nogueira Campos, Bernardino Cláudio de Albuquerque, Rosemary Costa Pinto, Angela Desiree Carepa Santos da Silva, Priscila Leal E Leite, Greice Madeleine Ikeda do Carmo, Andre Luiz de Abreu, Cintia Paula Vieira Carrero, Marli Rocha de Abreu, Fabiano Marques Rosa, Cesar M de Oliveira, Dirce Bellezi Guilhem
Journal: Euro Surveill (2019)
Keywords: america, brazil, airborne infections, communicable diseases, disease outbreaks, epidemiology, measles, outbreaks, viral infections
MeSH terms: Disease Notification / statistics & numerical data, Disease Outbreaks, Immunization / statistics & numerical data, Measles / epidemiology, Measles Vaccine / administration & dosage, Measles virus / isolation & purification, Vaccination Coverage / statistics & numerical data, Adolescent, Adult, Brazil / epidemiology, Child, Child, Preschool, Female, Humans, Immunization Programs, Infant, Male, Measles / diagnosis, Measles / prevention & control, Measles virus / genetics, Measles virus / immunology, Middle Aged, Venezuela / epidemiology, Young Adult, Measles Vaccine

We report an ongoing measles outbreak in Manaus, Amazonas state, Brazil. As at 3 November 2018, 1,631 cases were confirmed corresponding to an incidence of 75.3 per 100,000 inhabitants; all five sanitary districts presented confirmed cases. Reintroduction of measles virus in Manaus is likely related to the current outbreak in Venezuela and due to recent decline in measles vaccine coverage. Given the current scenario, prevention and control measures should target individuals aged 15-29 years.
Third degree formic acid chemical burn in the treatment of a hand wart: a case report and review of the literature
Authors: Nicolas Balagué, Philippe Vostrel, Jean-Yves Beaulieu, Jan van Aaken
Journal: Springerplus (2014)
Keywords: chemical burn, formic acid, wart

Objective:
Cutaneous warts are very common and a large variety of topical treatments and drugs can be employed to cure these skin injuries that can arise on any part of the body. But are these products really safe?
Method:
We performed a case description and PubMed literature review using key words "wart," "chemical burn," and "formic acid." All articles in English and French were selected.
Results:
This is the first report of a chemical burn by formic acid in the treatment of warts. Numerous topical treatments for cutaneous warts are available with many new drugs appearing every year. However, only a few treatments have proven their effectiveness, such as salicylic acid or cryotherapy with liquid nitrogen that are commonly used. Moreover, most cutaneous warts will resolve spontaneously without any treatment and several products, including topical acids and cryotherapy devices, presented adverse effects such as chemical burns or frostbites so demonstrating that even frequently used treatments can be harmful.
Conclusion:
Topical treatments used for wart removal are not without risk even if some products are sold without prescription. For self-treatment products, we recommend enhanced warning by the pharmacist about the risks involved.
Using Directional Deep Brain Stimulation to Co-activate the Subthalamic Nucleus and Zona Incerta for Overlapping Essential Tremor/Parkinson's Disease Symptoms
Authors: Ramsey A Falconer, Sean L Rogers, Mahesh Shenai
Journal: Front Neurol (2018)
Keywords: axially asymmetric stimulation, co-activating targets, current steering, deep brain stimulation, directional deep brain stimulation, essential tremor, mixed tremor, parkinson disease
MeSH terms: Case Reports

This index case report describes a novel programming approach that utilizes the 8-contact directional Deep Brain Stimulation (DBS) lead to effectively control the akinesia, rigidity and tremor of Parkinson's Disease (PD), as well as a severe kinetic tremor of Essential Tremor (ET), in a patient with overlapping symptoms of both PD and ET. Through utilizing a bipolar directional montage on a single segmented contact, symptom control was attained via likely co-activation of the Subthalamic Nucleus (STN) and the adjacent Zona Incerta (ZI). The patient is a 67-year-old professional guitarist with a long-standing diagnosis of ET manifesting with bilateral kinetic tremor, who then developed right lateralizing symptoms indicative of PD. After optimal medical management did not confer sufficient control, he underwent left-sided unilateral DBS targeting the STN. Both intraoperatively and post-operatively, omnidirectional, and directional electrode review resulted in significant akinesia, rigidity, and as well as resting tremor control but failed to sufficiently improve the kinetic tremor. As electrode 2B was shown to be the most efficacious with the largest therapeutic window, a bipolar directional montage on a single segmented contact was tried with the idea of possibly further extending the axial asymmetry of the directional stimulation toward the adjacent ZI to impact the kinetic tremor. This montage resulted in full kinetic and resting tremor control as well as akinesia and rigidity response [2B cathode (-), 2A anode (+), 2C anode (+) (1.4 mA, rate 160 Hz, pulse width 60 μs)]. At 6 months post initial programming, no montage changes have been made, and the patient has experienced a reduction in Motor UPDRS scores from 23 to 3 (evaluated off medication), full resolution of kinetic tremor and normalization of handwriting, as well as significant reduction in his medication requirements. This patient's response to a single segment bipolar directional montage, and lack of response from monopolar directional stimulation in the same area, does suggest the possibility of further axial asymmetric tissue activation and thus co-activation of both the dorsal STN and adjacent ZI. Further modeling and study are warranted.
Reactivation of Acute Retinal Necrosis following SARS-CoV-2 Infection
Authors: Monica P Gonzalez, Radames Rios, Mariella Pappaterra, Miguel Hernandez, Allison Toledo, Carmen Santos, Andres Emanuelli, Shree K Kurup, Armando L Oliver
Journal: Case Rep Ophthalmol Med (2021)
MeSH terms: Case Reports

Purpose:
To report on a case of reactivation of acute retinal necrosis following SARS-CoV-2 infection.
Methods:
Observational case report. Observations. A 32-year-old female with a distant history of left retinal detachment secondary to necrotizing herpetic retinitis complained of right-eye vision loss, pain, redness, and photophobia. An ophthalmological examination revealed findings consistent with acute retinal necrosis of the right eye. A polymerase chain reaction (PCR) analysis of the right vitreous was positive for herpes simplex virus type 2 (HSV-2). A coronavirus disease 2019 (COVID-19) screening test using reverse transcriptase- (RT-) PCR was positive for SARS-CoV-2 RNA.
Conclusions:
Our case suggests that COVID-19 may cause a latent HSV infection to reactivate, causing contralateral involvement in patients with a prior history of HSV-associated acute retinal necrosis.
Recurrent glioblastoma metastatic to the lumbar vertebra: A case report and literature review: Surgical oncology
Authors: Ako Matsuhashi, Shota Tanaka, Hirokazu Takami, Masashi Nomura, Masako Ikemura, Yoshitaka Matsubayashi, Yusuke Shinoda, Keisuke Yamada, Yu Sakai, Yasuaki Karasawa, Shunsaku Takayanagi, Nobuhito Saito
Journal: Front Oncol (2023)
Keywords: chromosomal instability, copy number alteration, craniotomy, glioblastoma, methylation array analysis, vertebral metastasis
MeSH terms: Case Reports

Background:
Glioblastoma is a malignant tumor, and its prognosis is as poor as 1.5 to 2 years. Most cases recur within one year even under the standard treatment. The majority of recurrences are local, and in rare cases, metastasize mostly within the centra nervous system. Extradural metastasis of glioma is exceedingly rare. Here, we present a case of vertebral metastasis of glioblastoma.
Case presentation:
We present a 21-year-old man post total resection of the right parietal glioblastoma, diagnosed with lumbar metastasis. He originally presented with impaired consciousness and left hemiplegia and underwent gross total resection of the tumor. Given the diagnosis of glioblastoma, he was treated with radiotherapy combined with concurrent and adjuvant temozolomide. Six months after tumor resection, the patient presented with severe back pain, and was diagnosed as metastatic glioblastoma on the first lumbar vertebrae. Posterior decompression with fixation and postoperative radiotherapy were conducted. He went on to receive temozolomide and bevacizumab. However, at 3 months after the diagnosis of lumbar metastasis, further disease progression was noted, and his care was transitioned to best supportive care. Comparison on copy number status between primary and metastatic lesions on methylation array analysis revealed more enhanced chromosomal instability including 7p loss, 7q gain and 8 gain in the metastatic lesion.
Conclusion:
Based upon the literature review and our case, younger age of initial presentation, multiple surgical interventions, and long overall survival seem to be the risk factors of vertebral metastasis. As the prognosis of glioblastoma improves over time, its vertebral metastasis is seemingly more common. Therefore, extradural metastasis should be kept in mind in the treatment of glioblastoma. Further, detailed genomic analysis on multiple paired specimens is mandated to elucidate the molecular mechanisms of vertebral metastasis.