OpenMed/multicare-articles huggingface dataset:
Case report: Immunoadsorption therapy for anti-caspr1 antibody-associated nodopathy
Authors: Lili Liu, Juanjuan Chen, Yue Zhang, Jun Wu, Jun Hu, Zhijian Lin
Journal: Front Immunol (2022)
Keywords: cidp, ia therapy, anti-caspr1 antibody, nerve biopsy, nodo-paranodopathies
MeSH terms: Nerve Growth Factors, Ranvier's Nodes, Case Reports, Autoantibodies, Cell Adhesion Molecules / metabolism, Humans, Male, Middle Aged, Rituximab / metabolism, Autoantibodies, Cell Adhesion Molecules, Nerve Growth Factors, Rituximab

Background and objectives:
Several autoantibodies against proteins located at the node of Ranvier has been identified in patients with chronic inflammatory demyelinating polyneuropathy (CIDP) in the last few years. Then a new concept, autoimmune nodo-paranodopathies was proposed. Cases of Caspr1 autoantibodies are the most rare. Here we describe an anti-Caspr1 nodopathy patient, summarized his clinical, physiological and pathological features.
Case presentation:
We present the case of a 56-year-old male patient with proprioceptive loss, ataxia, coarse tremor and distal limb weakness without any painess and cranial involvement. Electrophysiological studies showed prolonged distal motor latencies, conduction slowing and reduced amplitude distal compound muscle action potential (CMAP) amplitude. Antibodies against the nodes of Ranvier in serum samples revealed a positive finding for the anti-Caspr1 antibody (1:10).Myelinated fiber loss could be revealed in nerve biopsy. Longitudinal ultrathin sections of the nodal region was discovered in electron microscope, the paranodal/nodal architecture was destructed. It was lack of transverse bands and enlargement of the space between the axon and the paranodal loops was seen. The patient improved obviously after three times immunoadsorption(IA) therapy.
Conclusion:
Anti-Caspr1 nodopathy patient may present atypical symptoms without any neuropathic pain and cranial palsy. The destruction of paranodal/nodal architecture could be observed in nerve biopsy, which may be caused by the lost of axoglial complex formed by NF155, CNTN1 and Caspr1. Antibodies detection is important for the diagnosis, while IA therapy could be regarded as an option for the patients allergic to rituximab (RTX).
Botulinum toxin injections for simple partial motor seizures associated with pain
Authors: Edward C Mader Jr, Bruce J Fisch, Nicole R Villemarette-Pittman, Piotr W Olejniczak, Michael E Carey
Journal: Case Rep Med (2012)
MeSH terms: Case Reports

Intractable epilepsy with painful partial motor seizures is a relatively rare and difficult disorder to treat. We evaluated the usefulness of botulinum toxin to reduce ictal pain. Two patients received two or four botulinum toxin (BTX) injections at one-to-two-month intervals. Patient 1 had painful seizures of the right arm and hand. Patient 2 had painful seizures involving the left foot and leg. Injections were discontinued after improved seizure control following resective surgery. Both patients received significant pain relief from the injections with analgesia lasting at least two months. Seizure severity was reduced, but seizure frequency and duration were unaffected. For these patients, BTX was effective in temporarily relieving pain associated with muscle contraction in simple partial motor seizures. Our findings do not support the hypothesis that modulation of motor end-organ feedback affects focal seizure generation. BTX is a safe and reversible treatment that should be considered as part of adjunctive therapy after failure to achieve control of painful partial motor seizures.
Case Report and Review of Literature: Autosomal Recessive Hypophosphatemic Rickets Type 2 Caused by a Pathogenic Variant in ENPP1 Gene
Authors: Yunsoo Choe, Choong Ho Shin, Young Ah Lee, Man Jin Kim, Yun Jeong Lee
Journal: Front Endocrinol (Lausanne) (2022)
Keywords: autosomal recessive hypophosphatemic rickets, case report, child, ectonucleotide pyrophosphatase phosphodiesterase 1, rickets
MeSH terms: Familial Hypophosphatemic Rickets / genetics, Case Reports, Review, Research Support, Non-U.S. Gov't, Humans, Mutation, Phosphates, Phosphoric Diester Hydrolases / genetics, Pyrophosphatases / genetics, Phosphates, Phosphoric Diester Hydrolases, Pyrophosphatases, Hypophosphatemic Rickets, Autosomal Recessive, 1

Autosomal recessive hypophosphatemic rickets type 2 (ARHR2) is a rare form of hereditary rickets, which is characterized by defective bone mineralization and renal phosphate wasting due to a loss-of-function variant in the ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) gene. Although pathogenic variant of ENPP1 has been known to manifest other phenotypes including arterial calcification, hearing loss, ossification of posterior longitudinal ligament, or pseudoxanthoma elasticum, there have been few reports including systematic examination in individuals diagnosed with ARHR2 to date. Herein, we report a case of ARHR2 with a bi-allelic pathogenic variant of ENPP1, in which the patient presented with gait abnormalities with severe genu varum at 26 months of age. Targeted gene panel sequencing was performed to investigate the genetic cause of rickets, and a homozygous nonsense variant in ENPP1, c.783C>G (p.Tyr261*), was identified. The patient was treated with oral phosphate and active vitamin D supplements and underwent corrective osteotomy for varus deformity. His phenotype was limited to rickets. A periodic systematic evaluation is needed to identify any comorbidities in ARHR2 patients since ENPP1 variants may present phenotypes other than rickets and symptoms may evolve or change over time.
Miliary tuberculosis presenting as bilateral pseudo-retinoblastoma
Authors: Yamini Attiku, Pukhraj Rishi
Journal: GMS Ophthalmol Cases (2021)
Keywords: eye, retinoblastoma, tuberculosis
MeSH terms: Case Reports

Objective: To describe an interesting case of miliary tuberculosis mimicking retinoblastoma. Method: A retrospective case report. Result: The twin brother of a known case of retinobastoma presented with headache. On fundus examination, multiple yellowish-white lesions were noted in both eyes. Magnetic resonance imaging of the brain showed multiple enhancing lesions. A diagnosis of miliary tuberculosis was made and anti-tubercular therapy was started. Conclusion: Ocular tuberculosis can mimic retinoblastoma and lead to diagnostic dilemma especially in cases with family history of retinoblastoma.
A Rare Case of Idiopathic Plastic Bronchitis
Authors: Mohammed Raoufi, Leila Achachi, Fatima Zahra Mrabet, Laila Herrak, Mustapha El Ftouh, Najoua Bourhroum, Nezha Ouazzani Taibi
Journal: Case Rep Pulmonol (2017)
MeSH terms: Case Reports

Plastic bronchitis is a rare disorder characterized by formation of large, branching bronchial casts, which are often expectorated. We present an interesting case of a 35-year-old woman who presented for evaluation of a chronic cough productive of voluminous secretions. Clinical and radiological examination confirmed a total left lung atelectasis without any pathological mediastinal node. Flexible bronchoscopy demonstrated tenacious, thick, and sticky whitish secretions blocking the left stem bronchus. This material was extracted, and inspection demonstrated a bronchial cast, whose pathological analysis revealed necrotic epithelial cells, some eosinophils, and Charcot-Leyden crystals. Two days after bronchoscopy, the patient rejected more bronchial casts, and dyspnea improved. Control of chest x-ray revealed complete left lung aeration and the diagnosis of idiopathic plastic bronchitis was obtained. This article shows the interest in clinical practice to evoke the diagnosis of plastic bronchitis in front of a productive chronic cough. Our case illustrates a rare clinical presentation represented by an atelectasis of an entire lung.
Benign osteonecrosis of the external ear canal: case series
Authors: Kiyoshi Chandler, McKenna Hawthorne, Alexandros Georgolios
Journal: J Surg Case Rep (2023)
MeSH terms: Case Reports

Benign osteonecrosis of the external ear canal is a rare pathology that commonly gets misdiagnosed as cholesteatoma of the external ear canal, keratosis obturans and malignant otitis externa. Each pathology has characteristics that allow for differentiation between them. Careful analysis is required to diagnose properly and determine the best modality of management. This case series presents two patients that were diagnosed with benign osteonecrosis of the external ear canal and is being managed conservatively with serial debridement. Response to conservative treatment has resulted in adequate control of symptoms in both patients.
Locally advanced triple negative breast cancer arising from fibroadenoma with complete response to neoadjuvant chemotherapy: A case report
Authors: Sho Shiino, Masayuki Yoshida, Momoko Tokura, Chikashi Watase, Takeshi Murata, Kenjiro Jimbo, Shin Takayama, Akihiko Suto, Kaishi Satomi, Akiko Miyagi Maeshima, Mari Kikuchi, Nachiko Uchiyama, Takayuki Kinoshita
Journal: Int J Surg Case Rep (2020)
Keywords: case report, fibroadenoma, invasive ductal carcinoma, neoadjuvant chemotherapy, pathological complete response, triple negative
MeSH terms: Case Reports

Introduction:
Breast cancer arising from benign fibroadenoma (FA) is rare. The histological type of the former was either carcinoma in situ or early-stage invasive breast carcinoma with hormone receptor positive/HER2 (human epidermal growth factor receptor-2)-negative phenotype. Meanwhile, advanced breast cancer of triple negative (TN) phenotype such as our case is extremely uncommon and clinically challenging.
Presentation of case:
We experienced a case of a 53-year-old woman that had invasive ductal carcinoma of TN phenotype in FA with multiple lymph node metastases. After receiving neoadjuvant chemotherapy (NAC), she underwent breast mastectomy and axillary dissection. The pathological examination on postoperative specimens revealed the dense fibrous stroma in the FA without any residual viable tumor cells and was considered as pathological complete response (pCR).
Discussion:
This is the first report presenting a case of NAC treatment for invasive ductal carcinoma (IDC) in FA. Furthermore, the patient achieved pCR even if IDC was located within FA. Diagnosing breast cancer in FA may be challenging as the carcinoma component may be hidden by the FA component. If imaging of FA became larger or abnormal changes during follow-up examinations, needle biopsy should be recommended for assessment of the lesion positively.
Conclusion:
This is the first report presenting a case of advanced breast cancer in FA of TN phenotype with multiple lymph node metastases who achieved pCR even if IDC was located within FA.
Combined Minimally Invasive Treatment of Teeth Discoloration Caused by Occupational Exposure to Bronze Alloy
Authors: Shahram Amirifar, Elham Ahmadi, Elmira Najafrad, Niyousha Rafeie
Journal: Int J Dent (2022)

Recently, dental bleaching has been frequently sought by patients to improve the appearance and color of the teeth. Among various treatment options, in-office bleaching is commonly preferred by patients with severely discolored teeth due to its fast aesthetic results. In addition, other pretreatment methods, such as air-powder polishing, have been reported to increase the efficacy of bleaching treatment. Compared to other causes of tooth discoloration, occupational tooth discoloration caused by bronze alloy and further treatment have not been sufficiently documented in the literature. In the present case report, we explain a case of tooth discoloration following exposure to a bronze alloy and a conservative clinical approach used for the management of tooth discoloration. A 15-year-old male patient who worked in a foundry was presented with tooth discoloration. At the first session, a rubber-cap prophylaxis was performed. After one week, air-powder polishing was used to remove the remaining stains. Finally, at the third session, two cycles of bleaching were performed using hydrogen peroxide gel 35%, each for 20 minutes. Photographs were taken at the end of each session and used for visual evaluation. The final result was aesthetically satisfactory.
Esophageal schwannomas: A rarity beneath benign esophageal tumors a case report
Authors: Emilio Sanchez-Garcia Ramos, Rubén Cortes, Alexandra Rueda de Leon, Emmanuel Contreras-Jimenez, Jorge Humberto Rodríguez-Quintero, Jesús Morales-Maza, Jorge Aguilar-Frasco, Alejandro Irigoyen, Frida Reyes, Alejandro Alfaro-Goldaracena
Journal: Int J Surg Case Rep (2019)
Keywords: s100, schwannoma, smooth muscle cell markers, spindle-shaped

Introduction:
Esophageal Schwannoma is a rare tumor that represents the least frequent mesenchymal tumor of the esophagus and represents a condition with only a few cases reported in the literature PRESENTATION OF A CASE: We report a 40-year-old female with a 5 years history of gastroesophageal reflux, repeated history of pharyngitis, odynophagia that culminated in progressive oropharyngeal dysphagia to solids. A barium esophagogram revealed a filling defect in the superior and middle thirds of the esophagus. Upper gastrointestinal endoscopy showed a smooth elevated lesion in the upper third of the esophagus, impossible to resect by this mean. An open left cervical approach revealed an 80 × 45 × 20 mm large tumor, which was resected.
Discussion:
In general, Schwanommas are rarely found in the gastrointestinal tract (GI), while the great majority occur in the stomach, esophagic is the least common GI form of presentation.
Conclusion:
The knowledge about a new case, impacts in obtaining more information about the clinical course and surgical treatment of this tumor.
Case report: Muscular tuberculosis with lower-extremity muscular masses as the initial presentation: Clinicopathological analysis of two cases and review of the literature
Authors: Xiao-Wei Zhu, Xing-Hua Luan, Kai-Li Jiang, Chao Zhang, Shi-Hua Liu, Li Cao, Ping Zhong, Zhi-Yan Liu
Journal: Front Med (Lausanne) (2023)
Keywords: acid-fast bacilli stain, muscular mass, muscular tuberculosis, polymerase chain reaction, tuberculosis
MeSH terms: Case Reports

Background:
Tuberculosis (TB) is a threat to public health that mostly affects people in developing countries. TB presenting as a soft tissue mass is rare and is usually seen in patients with muscular tuberculosis (MT).
Case presentation:
In this study, we present the clinical, radiographic, and pathological features of two cases and retrospective evaluations of an additional 28 patients who were diagnosed with MT. More patients were men (60.9%) than women (39.1%), with a male-to-female ratio of 1.6:1. The average age among male and female patients was 38.9 and 30.1 years, respectively. MT usually presents with painful or painless muscular nodules on the lower limbs. Imaging findings, including ultrasound, CT, and MRI, can be used to identify lesions and sites for biopsy. The most typical histopathological feature of MT is granulomatous inflammation with caseous necrosis and epithelioid granulomata. Acid-fast bacilli stain and polymerase chain reaction (PCR) assays are helpful in identifying tubercle bacillus.
Conclusion:
We describe two MT cases with lower-extremity muscular masses as the initial presentation. The results suggest that muscle biopsy and pathological analysis remain necessary for diagnosis. Most of the patients could be cured with standard antituberculosis therapy.
Mucinous cystadenoma of the pancreas with predominant stroma creating a solid tumor
Authors: Won Ae Lee
Journal: World J Surg Oncol (2005)

Background:
Mucinous cystic neoplasm (MCN) of the pancreas is basically cystic epithelial neoplasm, unilocular or multilocular, occurring almost exclusively in women.
Case presentation:
A 51-year-old female presented with a pancreatic mass incidentally found on the abdominal computed tomography. She underwent distal pancreatectomy. The sectioned surface of the pancreas revealed a circumscribed, whitish gray ovoid firm mass with some cystic spaces. Microscopically, glandular or small cystic structures were scattered in the predominant stroma creating a solid appearance. The subepithelial stromal component was composed of cytologically bland looking spindle cells, which resembled ovarian stroma. The stromal cells were reactive to CD 34, vimentin, progesterone receptor and calretinin. The microscopy was consistent with mucinous cystadenoma of the pancreas.
Conclusion:
This case of mucinous cystadenoma of the pancreas showed very interesting pathology: It was solid rather than cystic, and accompanied by abundant benign transitional epithelia, which was a very unusual and novel finding in the mucinous cystic neoplasm of the pancreas.
Gastric perforation secondary to T-cell lymphoma
Authors: Joaquin Fernandez-Alberti, Matías Mihura Irribarra, Agustín Rancati, Nicolas Panzardi, Maria Florencia Cora, Daniela Speisky, Daniel Enrique Pirchi
Journal: Ecancermedicalscience (2023)
Keywords: t-cell lymphoma, gastrectomy, primary gastric lymphoma, spontaneous perforation
MeSH terms: Case Reports

Introduction:
Malignant primary lymphoma represents only 1%-5% of all gastric tumours. Spontaneous gastric perforation in the absence of chemotherapy in these cases is extremely rare. The vast majority of primary gastric lymphomas have a B-cell phenotype that originates from mucosa-associated lymphoid tissue and primary gastric lymphomas with a T-cell phenotype are rarely reported. This report describes a case of a primary gastric T-cell malignant lymphoma associated to spontaneous perforation and peritonitis.
Case presentation:
An 80-year-old woman referring 24 hours of abdominal pain associated to cognitive impairment consulted to our Emergency Department. Her past medical history revealed smoking, hypothyroidism, dilated cardiomyopathy, hypertension, celiac disease with poor adherence to gluten-free diet and a Non-Hodgkin T cell lymphoma associated to enteropathy in 2010. At physical examination, she presented with tachycardia, hypotension and abdominal tenderness. Lab test revealed low red cell count and an abdomen computed tomography scan showed pneumoperitoneum secondary to a large gastric perforation located in the anterior wall of the antrum. Urgent surgery was performed. At exploratory laparoscopy, a 5 cm perforation of the anterior wall of prepyloric antrum was observed associated to a 4-quadrant peritonitis. Conversion to open surgery was decided to perform an open antrectomy and Billroth II gastro-jejunostomy. The patient was transferred to ICU after surgery under mechanical respiratory assistance for closed monitoring but evolved with a cardiogenic shock and deceased on the first postoperative day. The final histopathological and immunohistochemical analysis reported enteropathy-associated T-cell lymphoma of gastric localisation with concomitant celiac disease.
Discussion:
We present a rare case of a patient with a history of celiac disease who developed a gastric perforation secondary to an enteropathy-associated T-cell lymphoma of gastric localisation. To the best of authors' knowledge, there have been reported less than 30 cases of spontaneous perforation of gastric lymphoma in the absence of chemotherapy in the last 35 years. Malignant gastric lymphoma, accounting only for 1% of primary gastric malignancies, is usually a diffuse large B-cell lymphoma. Incidence of perforation of gastric lymphomas in patients receiving chemotherapy rounds 0.9%-1.1%. However, it is a rare condition in patients not receiving chemotherapy.
Conclusion:
This is a rare case of a patient with an enteropathy-associated T-cell lymphoma of gastric localisation, who developed a spontaneous gastric perforation in the absence of chemotherapy. Despite it is a rare condition, it must be suspected in patients with a history of lymphoma in the context of acute abdominal pain.
Case report: Prader-Willi syndrome and inflammatory arthritis-An important consideration
Authors: Luca Marelli, Tomáš Dallos, Elisabetta Miserocchi, Paolo Nucci, Beatrice Tombolini, Orazio De Lucia, Maurizio Gattinara, Roberto Caporali, Achille Marino
Journal: Front Pediatr (2023)
Keywords: prader-willi syndrome, arthritis, genetic disorders, human growth hormone, juvenile idiopathic arthritis, obesity, uveitis
MeSH terms: Case Reports

Background:
Prader-Willi syndrome (PWS) is a multisystemic genetically determined disorder. Musculoskeletal manifestations are common in most patients. We report the cases of two children with PWS who developed inflammatory arthritis, complicated with chronic anterior bilateral uveitis in one case. To our knowledge, no previous reports of such an association exist.
Case presentation:
Case 1 was of a 3-year-old girl diagnosed with PWS who developed arthritis of the right knee with morning stiffness, joint swelling, and limited range of motion. Other causes of arthritis were ruled out. Increased inflammatory markers, antinuclear antibody (ANA) positivity, and hypertrophic synovitis on ultrasound confirmed the diagnosis of inflammatory arthritis compatible with juvenile idiopathic arthritis (JIA). Despite the treatment with methotrexate, arthritis progressed, and etanercept was added. The patient reached and maintained articular remission while on combined MTX and etanercept treatment during 9 years of follow-up. Case 2 was of a 6-year-old boy diagnosed with PWS who developed arthritis of the right knee. Laboratory investigations showed mildly increased acute phase reactants, microcytic anemia, and ANA positivity at high titer (titer 1:1,280). Infectious and other causes of arthritis were excluded. Ultrasound confirmed the presence of joint effusion and synovial thickening, and synovial fluid analysis was consistent with inflammatory arthrosynovitis (white blood cell count of 14,200/µl) compatible with JIA. Shortly after the diagnosis, the ophthalmologic evaluation revealed the presence of bilateral anterior uveitis. Despite MTX and topical corticosteroid, ocular inflammation persisted and adalimumab was added. At the last follow-up, 9 months later, the child experienced inactivity of arthritis and uveitis with normal growth.
Conclusions:
We aim to raise awareness of this possible association among pediatricians since arthritis might be underestimated due to high pain tolerance, behavioral disturbances, and other musculoskeletal abnormalities in PWS patients.
Type III Monteggia Injury With Ipsilateral Distal Forearm Fracture in a Child: A Case Report
Authors: Chao Gao, Jing Hua Sun, Hua Jiang Zheng, Yong Yao Wu, Jin Cao
Journal: Front Pediatr (2022)
Keywords: monteggia injury, bipolar fracture, child, ipsilateral distal forearm fracture, operative treatment
MeSH terms: Case Reports

Monteggia fracture refers to breakage of the upper third of the ulna combined with dislocation of the radial head. It often occurs in children and adolescents and represents a combined injury. Fracture of the distal forearm is among the most common trauma suffered by children. However, distal forearm fractures have rarely been reported as having an association with Monteggia fractures. We report on a 9-year-old boy diagnosed with a type III Monteggia fracture combined with a distal forearm fracture. He underwent surgery and received rehabilitation training 1 month later. He was followed-up for 1 year. The affected limb functioned well with no sign of radial head dislocation.