OpenMed/multicare-articles huggingface dataset:
Hashimoto Encephalopathy in Pediatrics: Report of 3 Cases
Authors: Anne-Marie D Kaulfers, Samar K Bhowmick
Journal: AACE Clin Case Rep (2020)
Keywords: csf, cerebrospinal fluid, eeg, electroencephalogram, he, hashimoto encephalopathy, hashimoto disease, iv, intravenous, mri, magnetic resonance imaging, nmda, n-methyl-d-aspartic acid, tpo, thyroid peroxidase, tsh, thyroid-stimulating hormone, hypothyroidism, pediatrics, psychology
MeSH terms: Case Reports

Objective:
To describe the rare occurrence of pediatric Hashimoto encephalopathy in 3 patients.
Methods:
The patients, 9 to 13 years of age, presented with new-onset seizures and other neurologic symptoms, including hemiplegia, aphasia, and memory loss. Thyroid function tests and thyroid antibodies were measured. Magnetic resonance imaging (MRI) of the brain, cerebrospinal fluid analysis, and electroencephalography were also performed.
Results:
The first patient had a thyroid-stimulating hormone (TSH) level of 60 μIU/mL (range, 0.4-4.5), free T4 of 0.28 ng/dL (range, 0.7-1.6), and thyroid peroxidase antibody (TPO Ab) of 1243 IU/mL (range < 9). The MRI results indicated a hyperintense signal along the gyri and sulci with diffuse leptomeningeal enhancement bilaterally. The second patient had a TSH level of 25 μIU/mL, free T4 level of 0.7 ng/dL, and TPO Ab level of 3340 IU/mL. The MRI result was normal. The third patient, who was already on levothyroxine, had a TSH level of 17 μIU/mL, free T4 level of 0.81 ng/dL, and TPO Ab level of 1200 IU/mL. The MRI result was normal. All patients had significant elevation of protein in the cerebrospinal fluid and background slowing on electroencephalography. All patients were treated with high doses of intravenous methylprednisolone followed by oral prednisone and thyroid hormone replacement.
Conclusion:
These cases underscore the importance of thyroid function tests with antibodies in children presenting with acute neuropsychiatric manifestations, especially new-onset seizures without any identifiable cause. We believe that this condition is underdiagnosed in children, and a high index of suspicion is recommended.
Complex reconstruction of the orbitofrontal regions using three regional flaps after orbital exenteration for the treatment of basal cell carcinoma
Authors: Cătălin Gheorghe Bejinariu, Christiana Diana Maria Dragosloveanu, Silviu Adrian Marinescu
Journal: Rom J Ophthalmol (2020)
Keywords: facial reconstruction, giant basal cell carcinoma, orbital exenteration
MeSH terms: Carcinoma, Basal Cell / surgery, Facial Neoplasms / surgery, Orbit Evisceration, Orbital Neoplasms / surgery, Plastic Surgery Procedures, Skin Neoplasms / surgery, Surgical Flaps, Case Reports, Aged, Carcinoma, Basal Cell / diagnostic imaging, Carcinoma, Basal Cell / pathology, Facial Neoplasms / diagnostic imaging, Facial Neoplasms / pathology, Humans, Male, Ophthalmologic Surgical Procedures, Orbital Neoplasms / diagnostic imaging, Orbital Neoplasms / pathology, Retrospective Studies, Skin Neoplasms / diagnostic imaging, Skin Neoplasms / pathology, Tomography, X-Ray Computed

Objective. The current paper presents an interesting case of facial reconstruction after the excision of a giant basal cell carcinoma located in the orbitofrontal region. Methods. Performing the excision while securing the appropriate oncologic safety margin has determined the appearance of a soft tissue defect that required a complex reconstruction using three regional flaps: frontal, temporal fascial and temporal muscle flaps. Results. After the excision and reconstruction in a single surgical stage, the postoperative result was favorable, the 12 months assessment showing that the patient was satisfied with the aesthetic aspect. Conclusion. Including the orbital exenterations in the excisional treatment of giant neoplasms located in the facial region requires a complex reconstructive plan. The surgical team has to consider the relief of the anatomical structures that are targeted, as well as the necessity of achieving satisfactory aesthetic results while ensuring oncological radicality.
Cognitive behavioral therapy for insomnia in Parkinson's disease: a case series
Authors: Meghan Humbert, James Findley, Maria Hernandez-Con, Lana M Chahine
Journal: NPJ Parkinsons Dis (2017)
MeSH terms: Case Reports

Chronic insomnia is common in patients with Parkinson's disease. There are limited data to guide its treatment in this patient population, especially in regards to non-pharmacologic interventions, some of which are highly effective in the non-Parkinson's disease population. The aim of this study is to describe a series of Parkinson's disease patients who underwent cognitive behavioral therapy for insomnia (CBTi). Parkinson's disease patients who had undergone a baseline and at least one follow-up CBTi session were identified. Electronic medical records and pre-treatment and post-treatment patient sleep diaries were reviewed. Sleep measures of interest included wake time after sleep onset, sleep efficiency, sleep onset latency, and total sleep time. Pre-treatment and post-treatment values were compared within subjects using paired t-test. Five patients were included. Patients attended an average of eight sessions of CBTi (range 5-12). Significant increases in sleep efficiency (p = 0.02) and decreases in number of awakenings per night (p = 0.02) were found. Our data provide preliminary evidence that cognitive behavioral therapy is an effective treatment for insomnia in Parkinson's disease, and is well tolerated and well received by patients. Given the limited data supporting use of medications to treat chronic insomnia in Parkinson's disease, combined with their risks, randomized trials to demonstrate the efficacy of CBTi in Parkinson's disease are warranted.
Chronic hepatitis B complicated with secondary hemochromatosis was cured clinically: A case report
Authors: Yun Ye, Jing Xie, Lina Wang, Cong He, Youwen Tan
Journal: Open Med (Wars) (2023)
Keywords: case report, chronic hepatitis b, clinical cure, hemochromatosis
MeSH terms: Case Reports

Chronic hepatitis B (CHB) often causes iron overload in the liver but rarely causes severe secondary hemochromatosis (SH). A 48-year-old man was infected with CHB via vertical transmission. For 21 years, nonstandard treatment with second-line hepatitis B antiviral drugs has been administered. Repeated abnormalities in the liver transaminase function and continuous low-level replication of the hepatitis B virus (HBV) have been detected. The skin had turned black 5 years back. Biochemical tests and imaging revealed the presence of hemochromatosis. A liver biopsy suggested severe iron overload. Two genetic tests ruled out hereditary hemochromatosis. The patient was diagnosed with SH and treated with 400 ml bloodletting once per week and an iron-chelating agent. After 12 weeks, liver function was normal, and the skin turned white. First, hepatitis B surface antigen (HBsAg) was lost, and HBV DNA was copied at low levels. The patient was diagnosed with an occult hepatitis B infection. HBV DNA was undetectable after 4 weeks of antiviral treatment with tenofovir. Upon reviewing the patient's medical history, hemochromatosis was believed to be related to CHB with chronic inflammatory damage and no complete virological response. Improvements in hemochromatosis may promote HBsAg disappearance.
Case Report: Severe Hypernatremia From Ingestion of One's Own Urine
Authors: Waye Hann Kang, N A Kamaruddin, Norlela Sukor
Journal: Front Med (Lausanne) (2022)
Keywords: electrolytes, hypernatremia, osmotic diuresis, urine ingestion, urophagia
MeSH terms: Case Reports

An often unrecognized cause of hypernatremia is the ingestion of fluids or substances with high osmolality. We hereby report a case of severe hypernatremia with acute kidney injury in a severely debilitated patient with acute gouty arthritis who resorted to ingesting his own urine. Hypernatremia induced by drinking urine could be attributed to many underlying mechanisms, one of the important possible causes is the resultant high serum urea that leads to significant osmotic diuresis and a further increase in free water clearance. To the best of our knowledge this is the first case report that describes this unique cause of hypernatremia.
Detection of Disease-Causing SNVs/Indels and CNVs in Single Test Based on Whole Exome Sequencing: A Retrospective Case Study in Epileptic Encephalopathies
Authors: Dan Sun, Yan Liu, Wei Cai, Jiehui Ma, Kun Ni, Ming Chen, Cheng Wang, Yongchu Liu, Yuanyuan Zhu, Zhisheng Liu, Feng Zhu
Journal: Front Pediatr (2021)
Keywords: copy number variation, epileptic encephalopathies, genetics, variant, whole exome sequencing

Background: Epileptic encephalopathies (EEs) are a pediatric entity with highly phenotypic and genetic heterogeneity. Both single nucleotide variants (SNVs)/Indels and copy number variations (CNVs) could be the causes. Whole exome sequencing (WES) is widely applied to detect SNVs/Indels, but the bioinformatics approach for detecting CNVs is still limited and weak. In the current study, the possibility of profiling both disease-causing SNVs/Indels and CNVs in a single test based on WES in EEs was evaluated. Methods: The infants diagnosed with EEs were enrolled from a single pediatric epilepsy center between January 2018 and February 2020. Demographic and clinical data were collected. In WES data, the pathogenic SNVs were identified through an in-house pipeline, and pathogenic CNVs were identified by CNVkit. The diagnostic rate was evaluated, and the molecular findings were characterized. Results: A total of 73 infants were included; 36 (49.32%) of them were males. The median age was 7 months. Thirty-two (43.84%) infants had been diagnosed with epilepsy syndrome. The most common type of syndrome was West syndrome (22/73, 30.1%), followed by Dravet syndrome (20/77, 27.4%). Fifty-four (73.97%) had intellectual development delay. The genetic cause of EEs, pathogenic or likely pathogenic variants, were successfully discovered in 46.6% (34/73) of the infants, and 29 (39.7%) infants carried SNVs/Indels, while 5 (6.8%) carried CNVs. The majority of the disease-causing variants were inherited in de novo pattern (25, 71.4%). In addition to showing that the variants in the ion channel encoding genes accounted for the main etiology, we discovered and confirmed two new disease-causing genes, CACNA1E and WDR26. Five discovered CNVs were deletions of 2q24.3, 1p36, 15q11-q13, 16p11.2, and 17p13.3, and all were confirmed by array comparative genomic hybridization. Conclusion: The application of both SNVs/Indels and CNVs detection in a single test based on WES yielded a high diagnosis rate in EEs. WES may serve as a first-tier test with cost-effective benefit in EEs.
Generalized Edema and Pseudothrombocytopenia After ChAdOx1 nCoV-19 COVID-19 Vaccination: A Case Report
Authors: Joanna Bokel, Daniela P Mendes-de-Almeida, Remy Martins-Gonçalves, Lohanna Palhinha, Alexandre G Vizzoni, Danusa Ferreira Correa, Luciana Gomes Pedro Brandão, Patrícia T Bozza, Beatriz Grinsztejn
Journal: Front Public Health (2022)
Keywords: covid-19 vaccine safety, generalized edema, pseudothrombocytopenia, spurious thrombocytopenia, vaccine-induced pseudothrombocytopenia
MeSH terms: COVID-19 / prevention & control, Thrombocytopenia / chemically induced, Thrombocytopenia / diagnosis, Case Reports, Research Support, Non-U.S. Gov't, COVID-19 Vaccines / adverse effects, ChAdOx1 nCoV-19, Edema, Humans, SARS-CoV-2, Vaccination / adverse effects, COVID-19 Vaccines, ChAdOx1 nCoV-19

Reports of side effects of vaccines against severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) are increasing worldwide. Capillary leak syndrome and vaccine-induced immune thrombotic thrombocytopenia are very rare but life-threatening adverse events that should be identified early and treated. However, isolated thrombocytopenia can indicate pseudothrombocytopenia. In certain people, ethylenediaminetetraacetic acid (EDTA) induces an in vitro platelet aggregation, resulting in misleading underestimation of platelet counts. It is essential to recognize pseudothrombocytopenia to prevent diagnostic errors, overtreatment, anxiety, and unnecessary invasive procedures. We present a case who developed generalized edema and persistent pseudothrombocytopenia after the first dose of the ChAdOx1 nCoV-19 vaccine (AstraZeneca).
Case report: Peritumoral hepatic steatosis in a patient with a metastatic somatostatin-producing oligosymptomatic neuroendocrine neoplasm
Authors: Yuming Shao, Yang Gui, Yuejuan Cheng, Jia Xu, Xiaoyan Chang, Ke Lv
Journal: Front Oncol (2022)
Keywords: case report, neuroendocrine neoplasm, pancreas, peritumoral steatosis, somatostatin
MeSH terms: Case Reports

Neuroendocrine neoplasms (NENs) comprise a heterogeneous collection of tumors derived from various neuroendocrine cells and are divided into functioning NEN and non-functioning NEN. Some NENs present with mild symptoms and can secrete somatostatin. These neoplasms are known as somatostatin-producing oligosymptomatic NENs. In this report, we describe a case of metastatic somatostatin-producing oligosymptomatic NEN with peritumoral hepatic steatosis and review the relevant literature. The patient was a 45-year-old woman who presented with mild steatorrhea and melena. A computed tomography scan revealed an enlarged pancreas protruding into the duodenum. Pathology after total pancreatectomy showed a grade 2 pancreatic NEN with positive somatostatin immunostaining. Enlarging masses on the liver were observed after the operation. Ultrasound examination revealed several lesions in the liver, with inner hypoechoic areas that showed rapid enhancement and fast washout on contrast-enhanced ultrasonography and with outer hyperechoic areas with continuous iso-enhancement. Therefore, the inner hypoechoic areas seen on contrast-enhanced ultrasonography were suspected to be true metastases. A biopsy confirmed this suspicion and indicated that the outer areas were peritumoral liver steatosis. This case highlights the importance of the imaging pattern described in this report for accurate diagnosis of metastatic NEN to avoid incorrect estimation of tumor size or a missed diagnosis on biopsy.
Epithelioid inflammatory myofibroblastic sarcoma: the youngest case reported
Authors: Sajida Batool, Arvind Ahuja, Devender Singh Chauhan, Minakshi Bhardwaj, Atul Kumar Meena
Journal: Autops Case Rep (2021)
Keywords: anaplastic lymphoma kinase, epithelioid cells, intestine, small, mesentery, sarcoma
MeSH terms: Case Reports

Epithelioid inflammatory myofibroblastic sarcoma (EIMS) is a rare variant of the inflammatory myofibroblastic tumor. It has an aggressive clinical course and a high rate of recurrence. EIMS primarily affects children and young adults. Hereby, we report this entity in a 4-month-old infant who presented with an abdominal mass. Imaging studies revealed a large hypodense mesentery-based lesion involving the right half and mid-region of the abdomen. The mass with an attached segment of the small bowel was excised in toto. Grossly, a large encapsulated tumor was identified arising from the mesentery of the small bowel. The histological examination showed a tumor consisting of epithelioid to spindle cells loosely arranged in a myxoid background with numerous blood vessels and lymphoplasmacytic inflammatory infiltrate. On immunohistochemistry, the tumor cells showed positivity for ALK1 (nuclear), desmin, SMA, CD68, and focal positivity for CD30. A final diagnosis of EIMS of the small intestine was rendered. To the best of our knowledge, this case is the youngest reported case in literature.
Vulvar and perianal condyloma superimposed inflammatory linear verrucous epidermal nevus: a case report and review of the literature
Authors: Sümeyra Nergız Avcioğlu, Sündüz Özlem Altinkaya, Mert Küçük, Hasan Yüksel, Selda Demircan-Sezer, Gonca Uçar
Journal: Case Rep Dermatol Med (2013)

Inflammatory linear verrucous epidermal nevus (ILVEN) is a benign cutaneous hamartoma characterized by intensely erythematous, pruritic, and inflammatory papules that occur as linear bands along the lines of Blaschko. There is a considerable clinical and histological resemblance between ILVEN and linear psoriasis, lichen striatus, linear lichen planus, and invasion of epidermal nevus by psoriasis. The pathogenesis of ILVEN is unknown. It is regarded as a genetic dyskeratotic disease reflecting genetic mosaicism. Here, a case of vulvar and perianal condyloma superimposed ILVEN is presented.
Unusual Sign from an Unusual Cause: Wellens' Syndrome due to Myocardial Bridging
Authors: Paurush Ambesh, Dikshya Sharma, Aditya Kapoor, Aviva-Tobin Hess, Vijay Shetty, Gerald Hollander, Jacob Shani, Stephan Kamholz, Arjun Saradna, Isaac Akkad, Chukwudi Obiagwu
Journal: Case Rep Cardiol (2018)
MeSH terms: Case Reports

It is vital to recognize correctly, chest pain of cardiac etiology. Most commonly, it is because of blood supply-demand inequity in the myocardium. However, the phenomenon of myocardial bridging as a cause of cardiac chest pain has come to attention reasonably recently. Herein, a coronary artery with a normal epicardial orientation develops a transient myocardial course. If the cardiac muscle burden is substantial, the respective artery gets compressed during each cycle of systole, thereby impeding blood flow in the artery. Hence, myocardial bridging has been attributed to as a rare cause of angina. In this case report, the authors discuss a patient in whom myocardial bridging turned out to be an elusive cause of angina. We wish to underscore the importance of being clinically mindful of myocardial bridging when assessing a patient with angina.
Subcutaneous Recurrences of Thyroid Cancer After Conventional Transcervical Thyroidectomy: A Case Report
Authors: Xubin Dong, Shihui Lv, Xiaohua Zhang, Quan Li
Journal: Front Surg (2020)
Keywords: computed tomography, follicular variant of papillary thyroid cancer, imaging features, subcutaneous implantation metastasis, thyroid cancer, ultrasound
MeSH terms: Case Reports

Metastatic subcutaneous implantation of the follicular variant of papillary thyroid cancer is very rare. We present a 62-year-old woman with a history of follicular variant of papillary thyroid cancer, who developed multiple asymptomatic subcutaneous nodules, after 5 years of initial thyroidectomy. Eventually, the subcutaneous nodules were diagnosed as tumor recurrence and completely excised. She has reportedly lived for more than 1 year, without signs of disease progression or recurrence. This case emphasizes the need for surgeons to take into account the tumor-free concept during the operation, and to a great extent prevent the occurrence of implantation recurrence.
First Case of CD40LG Deficiency in Ecuador, Diagnosed after Whole Exome Sequencing in a Patient with Severe Cutaneous Histoplasmosis
Authors: Luis Alberto Pedroza, Nina Guerrero, Asbjørg Stray-Pedersen, Cristina Tafur, Roque Macias, Greta Muñoz, Zeynep Coban Akdemir, Shalini N Jhangiani, Levi B Watkin, Ivan K Chinn, James R Lupski, Jordan S Orange
Journal: Front Pediatr (2017)
Keywords: cd40lg, histoplasmosis, hyper-igm syndrome, primary immunodeficiency diseases, whole exome sequencing
MeSH terms: Case Reports

Severe infections with Histoplasma capsulatum are commonly observed in patient with secondary immunodeficiency disorders. We report a two and a half years old boy previously healthy with disseminated cutaneous histoplasmosis. Using whole exome sequencing, we found an indel mutation at the CD40LG gene, suggesting a diagnosis of hyper-IgM (HIGM) syndrome, even in the absence of the usual features for the disease. Interestingly, the patient lives in a region endemic for histoplasmosis. The unusual infections in our case suggest that in children with severe histoplasmosis and resident in endemic areas, HIGM syndrome should be considered as a diagnosis.
A chronic myeloid leukemia case with a variant translocation t(11;22) (q23;q11.2): masked Philadelphia or simple variant translocation?
Authors: Kadir Acar, Burak Uz
Journal: Pan Afr Med J (2018)
Keywords: cronic myeloid leukemia, imatinib mesylate, masked philedelphia chromosome, nilotinib, variant translocation
MeSH terms: Antineoplastic Agents / administration & dosage, Imatinib Mesylate / administration & dosage, Leukemia, Myelogenous, Chronic, BCR-ABL Positive / genetics, Translocation, Genetic / genetics, Case Reports, Adult, Fusion Proteins, bcr-abl / genetics, Humans, In Situ Hybridization, Fluorescence, Karyotyping, Leukemia, Myelogenous, Chronic, BCR-ABL Positive / drug therapy, Male, Philadelphia Chromosome, Antineoplastic Agents, Imatinib Mesylate, Fusion Proteins, bcr-abl

Chronic myeloid leukemia (CML) is characterized by the presence of the Philadelphia chromosome (Ph), usually due to a reciprocal translocation, t(9;22)(q34;q11.2). The remaining cases (2-10%) have variant translocation, and more rarely (~1%) a cryptic rearrangement is present which can be detected by fluorescence in situ hybridization analysis in a CML patient with a Ph-negative karyotype (Masked Ph). We present a masked/variant BCL-ABL-positive CML patient showing a t(11;22)(q23;q11.2) which was detected using a combined approach of conventional cytogenetics and reverse transcription polymerase chain reaction. In February 2013, the patient was diagnosed as having CML. Imatinib mesylate (400 mg/day), was then started. Under imatinib therapy a complete hematologic and cytogenetic response was attained. In December 2013, an increment in BCR-ABL/ABL transcript levels according to the International Scale (from 0.0471% to 1.4034%), indicating imatinib failure, was documented. Administration of nilotinib (400 mg twice daily) resulted in durable molecular response after 3 months. The patient is still on nilotinib treatment throughout the observation period with no sign of recurrence and adverse events.
Nonhemolytic, nonmotile gram-positive rods indicative of Bacillus anthracis
Authors: Elie G Dib, Samar A Dib, Dany A Korkmaz, Neville K Mobarakai, Jordan B Glaser
Journal: Emerg Infect Dis (2003)
MeSH terms: Bacillus anthracis / isolation & purification, Bacillus megaterium / isolation & purification, Case Reports, Research Support, Non-U.S. Gov't, Adult, Bacillus anthracis / classification, Bacillus megaterium / classification, Bacillus megaterium / pathogenicity, Female, Humans, Ovarian Cysts / diagnosis, Ovarian Cysts / surgery

We report a 40-year-old female patient who was admitted to the hospital because of a left ovarian mass torsion. A nonhemolytic, nonmotile Bacillus, suspicious of Bacillus anthracis, was isolated from a blood culture. We discuss the evaluation that led to the final identification of the bacterium as B. megaterium.
Microscopic and endoscopic "chopstick" technique removal of choroid plexus papilloma in the third ventricle of an infant: a case report with systematic review of literature
Authors: Weiwei Li, Zongping Li, Chengyan Wei, Xiaoyong Yang, Yuzhu Ji, Hongyuan Liu
Journal: Front Oncol (2023)
Keywords: choroid plexus papilloma, endoscopic, infant, microscopic, “chopstick” technique

Background:
Choroid plexus papilloma (CPP) is rare and even rarer in infants and young children, and it usually occurs in the ventricles. Due to the physical peculiarities of infants, tumor removal by microscopic or endoscopic surgery alone is difficult.
Case presentation:
A 3-month-old patient was found to have an abnormally enlarged head circumference for 7 days. Cranial magnetic resonance imaging (MRI) examination revealed a lesion in the third ventricle. The patient underwent combined microscopic and endoscopic "chopstick" technique to remove the tumor. He recovered well after the surgery. Postoperative pathological examination revealed CPP. Postoperative MRI suggested total resection of the tumor. Follow-up for 1 month showed no recurrence or distant metastasis.
Conclusions:
Combined microscopic and endoscopic "chopstick" technique may be a suitable approach to remove tumors in infant ventricles.