OpenMed/multicare-articles huggingface dataset:
Epileptic Seizures and Right-Sided Hippocampal Swelling as Presenting Symptoms of Anti-IgLON5 Disease: A Case Report and Systematic Review of the Literature
Authors: Yaoqi Fu, Xiangting Zou, Ling Liu
Journal: Front Neurol (2022)
Keywords: anti-iglon5 disease, autoimmune encephalitis, clinical manifestation, immunotherapy, laboratory investigation, radiological feature, systematic review
MeSH terms: Systematic Review

Background and objective:
Anti-IgLON5 disease is an uncommon neurological disorder characterized by diverse clinical manifestations. Although many relevant cases have been reported, our understanding of this disorder is still quite restricted. We present a rare case of anti-IgLON5 disease and performed a comprehensive systematic review of all published cases to expand the clinical spectrum of this disorder.
Methods:
We report a 61-year-old woman with an atypical presentation of epileptic seizures with abnormal signals in her right hippocampus on brain magnetic resonance imaging (MRI). A systematic review was performed of electronic databases, including PubMed, EMBASE, China National Knowledge Infrastructure (CNKI), WanFang and VIP China Science.
Results:
We identified 161 cases from 65 publications. With heterogeneous clinical manifestations, we found that bulbar dysfunction, sleep apnea, gait instability and neurocognitive and behavioral symptoms are the most common symptoms of anti-IgLON5 disease. Anti-IgLON5 antibodies presented a higher positive rate and titer in the serum than in the cerebrospinal fluid (CSF). Haplotype DRB1*10:01-DQB1*05:01 is highly correlated with anti-IgLON5 disease. Only 38 patients have presented distinctive MRI alterations (26.2%). Approximately half of the cases are responsive to immunosuppressive or immunomodulatory treatment.
Conclusion:
Anti-IgLON5 disease is characterized by various clinical manifestations and laboratory findings. Immunotherapy may be effective in treating anti-IgLON5 disease, but the results are far from satisfactory. Studies with larger sample sizes are required to improve the current understanding of this disorder.
Medullary Thyroid Carcinoma Presenting as Metastatic Disease to the Breast
Authors: Archana P Kanteti, Samir Atiya, Ashley Hein, Jesse L Cox, Ernesto Martinez Duarte
Journal: Case Rep Pathol (2020)
MeSH terms: Case Reports

Medullary thyroid carcinoma (MTC) is a neuroendocrine tumor that is derived from C cells of the thyroid gland. It is a rare aggressive tumor, known to metastasize to lymph nodes, liver, bones, and lungs. A 41-year-old female, who presented with a breast mass, was initially diagnosed with invasive ductal carcinoma. She was also found to have a thyroid mass which was later diagnosed as MTC. On a rereview of the breast pathology, the morphologic features were strikingly similar to the MTC. Further investigation revealed that this was in fact a very rare case of MTC that had metastasized to the breast. We have identified 20 cases of MTC metastasizing to the breast in the literature that supports its occurrence as a real possibility. Albeit rare, medullary thyroid carcinoma should be considered in the differential diagnosis of a breast mass.
Case Report: Somatic Symptoms Veiling Gender Dysphoria in an Adolescent
Authors: Giuliana Morabito, Dora Cosentini, Gianluca Tornese, Giulia Gortani, Serena Pastore, Maria Rita Lucia Genovese, Giorgio Cozzi
Journal: Front Pediatr (2021)
Keywords: chronic pain, gender dysphoria, gender incongruence, mental health emergency, somatic symptom disorder
MeSH terms: Case Reports

Background: Somatic symptom disorder is common in children and adolescents; usually, it is an expression of a mental health problem or other conditions that lead to psychosocial impairment and suffering. Among these, in pubertal age, gender dysphoria should be considered. Case Presentation: We present the case of a 15-year-old girl admitted to the hospital because of a 2-month history of scattered arthralgia and myalgia, headache, and fatigue, with repeated visits to the emergency room. The physical exam was unremarkable, except for step walking and pain. Repeated diagnostic tests were normal, and consecutive psychological interviews disclosed intense suffering due to a gender incongruence. Referral to the hospital gender service was offered and refused by the parents. Conclusions: In pubertal age, gender dysphoria may be expressed through somatoform symptoms. Diagnosis is challenging to accept for the parents even in the presence of adequate multi-disciplinary hospital services.
Fibrosing mediastinitis: when to suspect and how to evaluate?
Authors: Neeraj Jain, Udit Chauhan, Sunil Kumar Puri, Sachin Agrawal, Lalit Garg
Journal: BJR Case Rep (2016)
MeSH terms: Case Reports

Fibrosing mediastinitis (FM), which is also known as mediastinal fibrosis or sclerosing mediastinitis, is an uncommon, benign and progressive condition characterized by an invasive proliferation of fibrous tissue within the mediastinum. Tuberculosis and histoplasmosis are the major causes of the granulomatous variety, while non-granulomatous FM is an idiopathic reaction to autoimmune syndromes, drugs and radiation. Contrast-enhanced CT is the investigation of choice that can diagnose, and assess the extent and the severity of involvement. We are presenting a case of FM in a young female who presented with complaints of breathlessness, occasional cough and diffuse chest pain for 3 months.
Case report: cranioplasty infection due to Roseomonas gilardii at a university hospital in Turkey
Authors: Gulfem Ece, Mete Ruksen, Ali Akay
Journal: Pan Afr Med J (2013)
Keywords: r gilardii, cranioplasty, pink-pigmented bacilli
MeSH terms: Abscess / diagnosis, Abscess / surgery, Bone Diseases / microbiology, Gram-Negative Bacterial Infections / diagnosis, Gram-Negative Bacterial Infections / surgery, Methylobacteriaceae, Postoperative Complications / diagnosis, Postoperative Complications / surgery, Skull / surgery, Case Reports, Adult, Bone Diseases / diagnosis, Bone Diseases / surgery, Hospitals, University, Humans, Male, Turkey

Roseomonas is a pink-pigmented, nonfermentative, oxidative, Gram-negative coccobacilli that has clinical importance as opportunistic pathogen which can lead to infections especially in immunosuppressed individuals. It is relatively less reported in many centers. These microorganisms are detected after several days growth in culture environment, and typical pink, mucoid colonies are detected. We are reported a case of cranioplasty infection that took place in a patient with with cranial abscess formation due to Roseomonas gilardii at Izmir University School of Medicine Medicalpark Hospital.
Superior mediastinal syndrome in paediatric B-cell acute lymphoblastic leukaemia: a case report
Authors: Rahat-Ul-Ain, Mahwish Faizan, Saba Fatima, Khalid Mehmood
Journal: Ecancermedicalscience (2022)
Keywords: anterior mediastinal mass, paediatric b-cell acute lymphoblastic leukaemia, superior mediastinal syndrome
MeSH terms: Case Reports

Superior mediastinal syndrome secondary to an anterior mediastinal mass can be seen in acute lymphoblastic leukaemia (ALL) of T-cell lineage. We report a 3-year-old child with B-cell ALL, who presented with the superior mediastinal syndrome. The CT scan chest showed a huge anterior mediastinal mass and the peripheral blood immunophenotyping showed B-cell ALL. High-risk remission induction chemotherapy was given and he achieved remission by the end of induction therapy, both in terms of medullary and extramedullary disease, and is on maintenance chemotherapy now. This is the first reported case of a paediatric B-cell ALL presenting with superior mediastinal syndrome secondary to an anterior mediastinal mass.
Successful treatment of thoracic myelopathy caused by spontaneous spinal epidural hematoma (SSEH) combined with calcification of the ligamentum flavum (CLF) by posterior percutaneous endoscopic surgery (PPES): A case report
Authors: Hou Lisheng, Zhang Dong, Bai Xuedong, Shi Jinglei, Nan Shaokui, Gao Tianjun, Ge Feng, He Qing
Journal: Front Surg (2023)
Keywords: calcification of the ligamentum flavum (clf), posterior percutaneous endoscopic surgery, recovery, spontaneous spinal epidural hematoma (sseh), thoracic myelopathy
MeSH terms: Case Reports

Study design:
A retrospective case report.
Objective:
To report a case who developed deteriorated paraplegia by spontaneous spinal epidural hematoma (SSEH) based on calcification of the ligamentum flavum (CLF) at the T10-11 level, achieved full neurological recovery following posterior percutaneous endoscopic surgery (PPES).
Summary of background data:
CLF rarely occurs at the thoracic spine, and the symptom usually progress slowly. SSEH is another rare spinal lesion that might progress rapidly and cause emergent severe spinal cord compression syndrome. Coexistence of SSEH and CLF at the same thoracic level was rarely reported in English literature.
Methods:
A 65-year-old man presented to our hospital with the complaint of sensorimotor loss on the lower limbs and dysfunction of bladder for 1 day after a progressive weakness and numbness of the lower limbs for 3 months. MR examination found a dorsal protruding mass at the T10-11 level, while computed tomography (CT) found the protruding mass contained scattered calcified deposits. The patient was diagnosed with thoracic CLF. Decompression via PPES was carried out to realize bilateral decompression through a unilateral approach.
Results:
During the operation, the protruding mass was found to be composed of SSEH and CLF together. After the operation, the patient's neurological function recovered quickly. One week later, the patient could walk by himself. After 3 months, complete neurological function had recovered.
Conclusion:
SSEH could develop based on CLF at thoracic level and cause serious neurological dysfunction. PPES might be an advisable method to remove CLF and evacuate SSEH with good clinical results.
A Case of Nasopharyngeal Mycobacteriosis with Bony Erosion of the External Skull Base
Authors: Kohei Matsuo, Satoshi Tanaka, Masayuki Sakata, Hiroki Takeda, Akihiro Nagata, Masashi Mori, Rie Ito, Yoshifumi Yamamoto, Kiyonobu Ueno, Atsuhiko Uno
Journal: Case Rep Otolaryngol (2021)
MeSH terms: Case Reports

Primary nasopharyngeal mycobacteriosis is a rare disease. We present a case in which skull base bone erosion appeared and was alleviated during the course of the treatment. Bone complications occur in osteoarticular mycobacteriosis, but their occurrence in primary nasopharyngeal mycobacteriosis has not been reported. A 77-year-old immunocompromised Asian woman presented with a right occipitotemporal headache. An ulcerative mass covered with a thick yellowish discharge was found in the roof and posterior walls of the right nasopharynx. Because histopathological examination indicated the presence of mycobacterial infection, we began using antituberculosis medication for the treatment because of the possibility of primary nasopharyngeal tuberculosis. However, this was followed by glossopharyngeal and vagus nerve paralysis. Computed tomography (CT) showed a diffuse enhancing mucosal irregularity in the nasopharynx with bony erosion of the external skull base. Deep tissue biopsy was repeated to differentiate it from malignant lesions, and drainage of pus from the right nasopharynx was confirmed. Subsequently, the headache, neurological findings, and the yellowish discharge disappeared, and the bony erosion of the external skull base was alleviated. Surgical intervention should also be considered for drug-resistant mycobacteriosis. We concluded that mycobacteriosis should also be considered apart from carcinoma even if CT shows a diffuse enhancing mucosal irregularity with bone destruction in the nasopharynx.
Oral verruciform xanthoma: a case report and literature review
Authors: Akshay Shetty, Kourosh Nakhaei, Yogesh Lakkashetty, Maryam Mohseni, Iman Mohebatzadeh
Journal: Case Rep Dent (2013)

Verruciform xanthoma is a benign mucocutaneous, uncommon, nonsymptomatic lesion of uncertain etiopathology, which occurs mostly on the oral mucosa of middle-aged individuals. Histopathologically, VX is diagnosed by presence of lipid-laden foam cells in papillary region of connective tissue. A 60-year-old male patient presented with a painless growth on the left buccal mucosa. On clinical examination a yellowish white exophytic lesion, measuring 11 × 7 mm in size, was found, which was cauliflower-shaped on inspection and painless on palpation. Histopathological examination revealed varying degrees of surface parakeratosis and the accumulation of numerous foam cells in the connective tissue papillae among the uniformly elongated epithelial ridges. On immunohistochemical staining, there was a neutrophilic infiltrate of the epidermis with CD68 positive xanthoma cells restricted to the papillary dermis, mixed with other chronic inflammatory cells.
The Link between Hypersensitivity Syndrome Reaction Development and Human Herpes Virus-6 Reactivation
Authors: Joshua C Pritchett, Radu M Nanau, Manuela G Neuman
Journal: Int J Hepatol (2012)

Background. There are challenges in the clinical diagnosis of drug-induced injury and in obtaining information on the reactivation of human herpes viruses (HHV) during idiosyncratic adverse drug reactions. Objectives. (i) To develop a unified list of drugs incriminated in drug-induced hepatotoxicity and severe cutaneous reactions, in which drug hypersensitivity leads to HHV-6 reactivation and further complication of therapy and recovery and (ii) to supplement the already available data on reporting frequencies of liver- or skin-induced cases with knowledge of individual case reports, including HHV-6 reactivation and briefly introducing chromosomally integrated HHV-6. Data Sources and Extraction. Drugs identified as causes of (i) idiosyncratic reactions, (ii) drug-induced hypersensitivity, drug-induced hepatotoxicity, acute liver failure, and Stevens-Johnson syndrome, and (iii) human herpes virus reactivation in PubMed since 1997 have been collected and discussed. Results. Data presented in this paper show that HHV-6 reactivation is associated with more severe organ involvement and a prolonged course of disease. Conclusion. This analysis of HHV-6 reactivation associated with drug-induced severe cutaneous reactions and hepatotoxicity will aid in causality assessment and clinical diagnosis of possible life-threatening events and will provide a basis for further patient characterization and therapy.
Dysphagia lusoria: a case of an aberrant right subclavian artery and a bicarotid trunk
Authors: A D Rogers, M Nel, E P Eloff, N G Naidoo
Journal: ISRN Surg (2011)
MeSH terms: Case Reports

Dysphagia Lusoria is dysphagia secondary to an aberrant right subclavian artery that has a retroesophageal course. Adachi and Williams categorized aortic arch anomalies, showing that the right subclavian artery arising in this fashion (as the final branch of the descending aortic arch) is one of the more common. However, this very rarely coexists with a bicarotid trunk. We present such a case as it is manifested in a 36-year-old lady complaining of marked weight loss and dysphagia. The diagnosis remained elusive until a CT scan of the chest was performed; angiography further delineated the pathology. It is believed that the combination of the common carotid origins with the retroesophageal course of the aberrant vessel more frequently accounts for symptoms in the absence of an aneurysm of the origin of the aberrant vessel. Several techniques to manage the aberrant vessel have been described in the literature, but we favoured open ligation and transposition to the right carotid artery.
Novel Technique for Hand-Assisted Laparoscopic Nephrectomy for Advanced Renal Cell Carcinoma with Renal Vein and Inferior Vena Cava Thrombi: Three Case Reports
Authors: Yuichi Machida, Hiroki Yoshiuchi, Yuko Kitano, Yoshikazu Kuroki, Masato Kamizuru, Junji Uchida
Journal: Case Rep Urol (2022)
MeSH terms: Case Reports

Introduction:
The treatment of thrombi in the renal vein (RV) and inferior vena cava (IVC) requires advanced laparoscopic experience. We present three cases of hand-assisted laparoscopic nephrectomy (HALN) using a novel technique for treating advanced renal cell carcinoma (RCC) with thrombi in the RV and IVC. Case Presentation. Three patients with RCC with RV or IVC thrombus below level I underwent HALN. Two patients had right RCC with RV and IVC thrombi. One patient had left RCC with an RV thrombus. We hooked a vessel loop to the end of the thrombus and pulled it up manually to make space for vascular processing. The RV was narrowed and dissected using Hem-o-lok clips or an Endo GIA stapler.
Conclusion:
In carefully selected cases, renal vascular processing could be easily and safely performed using a vessel loop in HALN with thrombectomy.
A case of carcinoid likely causing jejunal intussusception
Authors: Jennifer Matulich, Kelly Thurston, Dan Galvan, Subhasis Misra
Journal: Case Rep Surg (2014)

A 34-year-old female was admitted to Emergency Department with an abrupt onset of diffuse abdominal pain. A CT scan done prior to her transfer revealed significant dilated loops of bowel as well as multiple target signs with likely torsed bowel. The patient consented to an exploratory laparotomy. During surgery, the proximal jejunum was found to be intussuscepted, a rare finding in an adult. There was evidence of mesenteric foreshortening throughout the small bowel and multiple whitish lesions within the mesentery, both consistent with the desmoplastic response that is characteristic of carcinoid. The interest for this case report comes from the patient's surgical findings of jejunal intussusception as well as her extensive history, which includes a bowel resection with an ileocolic anastomosis for presumed ischemia and a carcinoid tumor in the stomach which had been removed endoscopically.
Invasive cystic hypersecretory carcinoma of the breast
Authors: Srilata Chitti, Sunayana Misra, Arvind Ahuja, Nikhil Gupta, Raghav Yelamanchi
Journal: Autops Case Rep (2022)
Keywords: breast, breast neoplasms, breast cyst, mammography
MeSH terms: Case Reports

Cystic hypersecretory carcinoma (CHC) of the breast is a rare variant of ductal carcinoma, characterized by variably sized cysts lined by micropapillary fronds to proliferative pseudostratified columnar epithelium. It includes a spectrum of morphological features ranging from clearly benign cystic hypersecretory hyperplasia (CHH), CHH with atypia to invasive CHC. Only 20 cases of invasive CHC have been reported to date. We report a case of a 49-year-old female who presented with a palpable breast lump and nipple discharge. Gross examination showed variable-sized cysts lined by solid grey white tumors. On microscopic examination, cysts were lined by micropapillary fronds with eosinophilic colloid-like secretion with a focus of invasion. A diagnosis of invasive CHC was made. Since there are limited case reports, our understanding of its biological behavior, prognostic factors, and genetic basis is limited.
Gastric carcinoid with hypergastrinemia: report of three cases
Authors: Katsuyoshi Furumoto, Hidenobu Kojima, Masayuki Okuno, Hiroaki Fuji, Rei Mizuno, Tomohiko Mori, Daisuke Ito, Masafumi Kogire
Journal: Case Rep Med (2010)
MeSH terms: Case Reports

We report 3 cases of gastric carcinoids with hypergastrinemia. Case 1: A 60-year-old man had a 2 cm carcinoid of the stomach and underwent partial resection. Involvement of the muscularis propria and lymph nodes metastasis were observed microscopically. Follow-up gastroscopy revealed another carcinoid lesion and total gastrectomy was performed. Case 2: A 67-year-old woman with multiple carcinoids of the entire stomach underwent antrectomy. No growth of residual tumors has been detected so far. Case 3: A 61-year-old man had a tumor near the esophagogastric junction and underwent total gastrectomy. Carcinoid component was diffusely intermingled with adenocarcinoma in the tumor and invaded into the subserosa. In all 3 cases, the serum gastrin level was high and atrophic gastritis was microscopically observed. Carcinoid tumor in Case 3 was different from those in Cases 1 and 2 and interestingly, gastric carcinoid with hypergastrinemia showed various types of appearance.
Splenic abscess as a paradoxical response to chemotherapy in tuberculous pleural effusion
Authors: Ramakant Dixit, Paras Nuwal, Manoj Arya
Journal: Ann Thorac Med (2010)
Keywords: paradoxical response, splenic abscess, tuberculosis
MeSH terms: Case Reports

We report a rare case of tuberculous pleural effusion that developed multiple splenic abscesses after antituberculosis chemotherapy. She responded to addition of oral corticosteroid to antituberculosis regimen. The relevant literature, regarding pathogenesis and clinical importance of recognizing a paradoxical response, is discussed.
1q21.1 microduplication: large verbal-nonverbal performance discrepancy and ddPCR assays of HYDIN/HYDIN2 copy number
Authors: Jean Xavier, Bo Zhou, Frédéric Bilan, Xianglong Zhang, Brigitte Gilbert-Dussardier, Sylvie Viaux-Savelon, Reenal Pattni, Steve S Ho, David Cohen, Douglas F Levinson, Alexander E Urban, Claudine Laurent-Levinson
Journal: NPJ Genom Med (2018)
MeSH terms: Case Reports

Microduplication of chromosome 1q21.1 is observed in ~0.03% of adults. It has a highly variable, incompletely penetrant phenotype that can include intellectual disability, global developmental delay, specific learning disabilities, autism, schizophrenia, heart anomalies and dysmorphic features. We evaluated a 10-year-old-male with a 1q21.1 duplication by CGH microarray. He presented with major attention deficits, phonological dysphasia, poor fine motor skills, dysmorphia and mild autistic features, but not the typical macrocephaly. Neuropsychiatric evaluation demonstrated a novel phenotype: an unusually large discrepancy between non-verbal capacities (borderline-impaired WISC-IV index scores of 70 for Working Memory and 68 for Processing Speed) vs. strong verbal skills - scores of 126 for Verbal Comprehension (superior) and 111 for Perceptual Reasoning (normal). HYDIN2 has been hypothesized to underlie macrocephaly and perhaps cognitive deficits in this syndrome, but assessment of HYDIN2 copy number by microarray is difficult because of extensive segmental duplications. We performed whole-genome sequencing which supported HYDIN2 duplication (chr1:146,370,001-148,590,000, 2.22 Mb, hg38). To evaluate copy number more rigorously we developed droplet digital PCR assays of HYDIN2 (targeting unique 1 kb and 6 kb insertions) and its paralog HYDIN (targeting a unique 154 bp segment outside the HYDIN2 overlap). In an independent cohort, ddPCR was concordant with previous microarray data. Duplication of HYDIN2 was confirmed in the patient by ddPCR. This case demonstrates that a large discrepancy of verbal and non-verbal abilities can occur in 1q21.1 duplication syndrome, but it remains unclear whether this has a specific genomic basis. These ddPCR assays may be useful for future research on HYDIN2 copy number.