OpenMed/multicare-articles huggingface dataset:
Papilledema as the Sole Manifestation of Neuroborreliosis
Authors: Kaitlyn May, Shankar Upadhyayula
Journal: Case Rep Infect Dis (2021)
MeSH terms: Case Reports

Lyme disease is reportable, and approximately 30,000 cases/year are notified to the local and state health departments. However, other estimates based on insurance records suggest there are close to 476,000 cases/year that are diagnosed and treated. In addition to a large burden of illness, areas where Lyme disease is common are expanding. Therefore, clinicians should be aware of uncommon presentations of this condition. We describe the case of a 5-year-old girl who presented with papilledema as an isolated manifestation of Lyme disease. Of note, her ocular symptoms were intermittent and worse when tired. In endemic areas, Lyme disease must be considered in the differential diagnosis for patients presenting with isolated ophthalmic findings even outside the usual Lyme season.
Susceptibility Weighted Imaging (SWI) Recommended as a Regular Magnetic Resonance Diagnosis for Vascular Dementia to Identify Independent Idiopathic Normal Pressure Hydrocephalus Before Ventriculo-Peritoneal (V-P) Shunt Treatment: A Case Study
Authors: Wen-Qing Huang, Hui-Nuan Lin, Qing Lin, Chi-Meng Tzeng
Journal: Front Neurol (2019)
Keywords: cerebral amyloid angiopathy (caa), idiopathic normal pressure hydrocephalus (inph), leukoaraiosis (la), susceptibility weighted imaging (swi), vascular dementia (vd)
MeSH terms: Case Reports

Idiopathic normal pressure hydrocephalus (INPH) with comorbid vascular dementia (VD) often have poor response to ventriculo-peritoneal (V-P) shunt. Here, three patients over the age of 60 came to the hospital with the similar clinical symptoms, Evan index over 0.3, mini-mental state examination (MMSE) score <27, and cerebrospinal fluid (CSF) pressure under 200 mmH2O. They accepted conventional brain imaging scanning, followed by magnetic resonance-susceptibility weighted imaging (MR-SWI) scanning. We found that MR-SWI could distinguish INPH from leukoaraiosis (LA) and cerebral amyloid angiopathy (CAA), through cerebral microbleed (CMB) images, sharply. We highly recommended incorporation of MR-SWI into INPH international guidance as a routine pre-operative diagnostic method preceding V-P shunt treatment.
Minced Cartilage in Combination with Autologous Bone Grafting for One-Step Osteochondral Defect Reconstruction in an Athlete's Knee
Authors: Diane Leyder, Christian Konrads, Patrick Ziegler, Stefan Döbele
Journal: Case Rep Orthop (2021)
MeSH terms: Case Reports

A 17-year-old student athlete suffering from stress-related knee pain asked for help. MRI revealed an unstable osteochondral lesion. Because of time pressure due to the patient's academic exams and his schedule as a basketball player, an autologous chondrocyte transplantation (ACT) as the standard surgical treatment plan was not accepted by the patient. This was mainly because of its two-step character three weeks in between surgeries. Therefore, a surgical one-step therapy option as alternative treatment to ACT was needed. The patient received simultaneous autologous cancellous bone grafting and minced cartilage procedure in a sandwich technique. After successful rehabilitation, the patient continued his studies of sports science and his active career as a basketball player successfully. Several different procedures are used for the treatment of cartilage defects. The following factors play a significant role: defect size, location, patient age, and sports ambitions. In the case described here, ACT would have been the conventional, but not the ideal option in the perspective of this individual patient because of the two-step surgery and the longer rehabilitation time. Therefore, the minced cartilage method presented a valid alternative, even though long-term data are still missing and prospective studies comparing this procedure with others are needed in the future.
Morbihan disease: treatment difficulties and diagnosis: a case report
Authors: Alaa Aboutaam, Fouzia Hali, Kenza Baline, Meryem Regragui, Farida Marnissi, Soumiya Chiheb
Journal: Pan Afr Med J (2018)
Keywords: morbihan disease, edema, face, treatment
MeSH terms: Dermatologic Agents / therapeutic use, Facial Dermatoses / diagnosis, Rosacea / diagnosis, Case Reports, Edema / diagnosis, Edema / drug therapy, Edema / pathology, Erythema / diagnosis, Erythema / drug therapy, Erythema / pathology, Eyelids / pathology, Facial Dermatoses / drug therapy, Facial Dermatoses / pathology, Humans, Male, Middle Aged, Rosacea / drug therapy, Rosacea / pathology, Telangiectasis / etiology, Dermatologic Agents

Morbihan disease (MD) is a rare entity. Its nosography is unclear and its therapeutic management is difficult. We report a new case of MD. We report a case of a 51-year-old patient consulted in our department for a one year facial edema, erythema and papules reported by him, for which the patient was treated with cyclins, local and general corticotherapy, without improvement. The clinical examination found an important edema of the front and eyelids with an erythema of the cheeks covered with a few telangiectasias. The clinical, biological and histological findings lead to a diagnosis of Morbihan disease after excluding other diseases. Due to previous therapeutic failures, the patient was put on isotretinoin and furosemide with slight improvement. The particularity of our observation lies in the rarity and especially in the therapeutic difficulties encountered during this disease.
An Interesting Case of Bilateral Facial Palsy due to Granulomatosis with Polyangiitis
Authors: Rajish Sanjit Kumar Shil, Jamal Ali Teir
Journal: Case Rep Rheumatol (2021)
MeSH terms: Case Reports

Granulomatosis with polyangiitis (formerly called Wegener's granulomatosis) is a systemic autoimmune disease, which can lead to necrotizing vasculitis affecting small vessels and cause inflammation of blood vessels in the nose, sinuses, throat, lungs, and kidneys. In rare instances, it has shown involvement of the brain and cranial nerves as well. We are reporting a case of granulomatosis with polyangiitis, complicated by bilateral facial palsy due to lower motor neuron involvement of the facial nerve, which has responded well to immunosuppressive treatment, particularly rituximab. It is prudent to be vigilant in investigating patients with atypical presentation for systemic autoimmune diseases, as this approach would affect the patient morbidity and mortality with early initiation of treatment for the disease.
Bilateral single-system ectopic ureters opening into vaginalized urogenital sinus
Authors: Bhupendra P Singh, Hemant R Pathak, Mukund G Andankar
Journal: Indian J Urol (2010)
Keywords: ectopic ureter, ureter, urogenital sinus
MeSH terms: Case Reports

A 5-year-old female presented with continuous dribbling of urine without any voiding stream since birth. Upon investigations, the bladder neck and both ureters were opening into the vaginalized urogenital sinus and the urethra was absent. Coarctation of the aorta was an associated anomaly. To our knowledge, this is the first report in literature of bilateral single-system ectopic ureters opening into vaginalized urogenital sinus. The report highlights the necessity for consideration of continent diversion in such cases because of the absence of the urethra in addition to an incontinent bladder neck and tiny dysfunctional bladder.
Case Report: Precision genetic diagnosis in a case of Dyggve-Melchior-Clausen syndrome reveals paternal isodisomy and heterodisomy of chromosome 18 with imprinting clinical implications
Authors: María-Pilar López-Garrido, María-Carmen Carrascosa-Romero, Minerva Montero-Hernández, Caridad-María Serrano-Martínez, Francisco Sánchez-Sánchez
Journal: Front Genet (2022)
Keywords: dmc syndrome, dym gene mutation, eloa3, tceb3c, upd chromosome 18, diagnostic odyssey, imprinting chromosome 18, precision medicine
MeSH terms: Case Reports

A twelve-year-old patient with a previous clinical diagnosis of spondylocostal skeletal dysplasia and moderate intellectual disability was genetically analyzed through next generation sequencing of a targeted gene panel of 179 genes associated to skeletal dysplasia and mucopolysaccharidosis in order to stablish a precision diagnosis. A homozygous nonsense [c.62C>G; p.(Ser21Ter)] mutation in DYM gene was identified in the patient. Null mutations in DYM have been associated to Dyggve-Melchior-Clausen syndrome, which is a rare autosomal-recessive disorder characterized by skeletal dysplasia and mental retardation, compatible with the patient´s phenotype. To confirm the pathogenicity of this mutation, a segregation analysis was carried out, revealing that the mutation p(Ser21Ter) was solely inherited from the father, who is a carrier of the mutation, while the mother does not carry the mutation. With the suspicion that a paternal disomy could be causing the disease, a series of microsatellite markers in chromosome 18, where the DYM gene is harbored, was analyzed in all the members of the family. Haplotype analysis provided strong evidence of paternal isodisomy and heterodisomy in that chromosome, confirming the pathological effect of this mutation. Furthermore, the patient may have a compromised expression of the ELOA3 gene due to modifications in the genomic imprinting that may potentially increase the risk of digestive cancer. All these results highlight the importance of obtaining a precision diagnosis in rare diseases.
Intestinal Obstruction due to Colonic Lithobezoar: A Case Report and a Review of the Literature
Authors: Metin Senol, Zehra Ünal Ozdemir, Ibrahim Tayfun Sahiner, Hakan Ozdemir
Journal: Case Rep Pediatr (2013)

Bezoar is defined as the accumulation of undigested foreign bodies or nutrients in the gastrointestinal tract. These foreign bodies can be hair (trichobezoar), fibers or seeds of vegetables and fruits (phytobezoar), or remnants of milk (lactobezoar) and stones (lithobezoar). Lithobezoar, the accumulation of stones in the digestive tract, is commonly seen in stomach. In this paper, a 7-year-old girl with colonic lithobezoar who presented with constipation, abdominal pain, and the history of pica was successfully treated by the extraction of the stones under general anesthesia.
Upper Limb Meromelia with Oligodactyly and Brachymesophalangy of the Foot: An Unusual Association
Authors: Meltem Özdemir, Rasime Pelin Kavak, Önder Eraslan
Journal: Case Rep Radiol (2019)
MeSH terms: Case Reports

Meromelia is a rare skeletal abnormality characterized by the partial absence of at least one limb. Several mechanisms have been postulated to explain the etiopathogenesis of the disorder. Most of the cases of meromelia are reported to be sporadic. It can occur either in isolation or with other congenital malformations. VACTERL association, gastroschisis, atrial septal defect, proximal femoral focal deficiency, and fibular hemimelia are the congenital abnormalities reported to be in association with meromelia. However, no other congenital abnormalities in association with meromelia have been recorded to date. We herein present an unusual case of bilateral upper limb meromelia accompanied by unilateral oligodactyly and brachymesophalangy of the foot.
Hematopoietic Stem Cell Transplantation and Vasculopathy Associated With STAT3-Dominant-Negative Hyper-IgE Syndrome
Authors: Mark J Ponsford, James Clark, Joel Mock, Mario Abinun, Emily Carne, Tariq El-Shanawany, Paul E Williams, Anirban Choudhury, Alexandra F Freeman, Andrew R Gennery, Stephen Jolles
Journal: Front Pediatr (2020)
Keywords: job's syndrome, st elevation myocardial infarction, stat3 transcription factor, cardiovascular diseases, coronary vessels, counseling, hematopoietic stem cell transplantation, thrombosis
MeSH terms: Case Reports

Dominant negative mutations in the transcription-factor STAT3 underlie the rare primary immunodeficiency Job's syndrome. Allogeneic Hematopoietic Stem Cell Transplantation (HSCT) has shown promise in correction of the underlying immunological defect, with one report suggesting HSCT can prevent development of wider connective tissue complications. Here, we report the case of a 26 year old male who developed an acute ST-elevation myocardial infarction due to coronary artery ectasia and thrombosis, occurring despite pediatric allogeneic HSCT for STAT3-HIES and a predicted 10-year conventional cardiovascular risk of 0.1%. Vasculopathy associated with STAT3-HIES may persist or arise following HSCT and can precipitate life-threatening complications. This has implications for counseling and vascular surveillance, and highlights the need for further studies to determine the risk, pathogenesis, and optimal management of the vasculopathy associated with STAT3-HIES.
Radical Surgery of Only the Anterior Elements of the Spine at the Posterior Element Fusion Level due to Metastatic Thyroid Cancer
Authors: Ryuto Tsuchiya, Kazuki Fujimoto, Kazuhide Inage, Sumihisa Orita, Yasuhiro Shiga, Hiroto Kamoda, Kazuyo Yamauchi, Miyako Suzuki, Jun Sato, Koki Abe, Hirohito Kanamoto, Masahiro Inoue, Hideyuki Kinoshita, Masaki Norimoto, Tomotaka Umimura, Masao Koda, Takeo Furuya, Junichi Nakamura, Kazuhisa Takahashi, Seiji Ohtori
Journal: Case Rep Orthop (2017)
MeSH terms: Case Reports

Spinal metastasis of differentiated thyroid cancer can have a favorable prognosis if radical surgery is performed. We encountered a case of spinal metastasis involving three anterior vertebral bodies at the posterior element fusion level and successfully achieved adequate stability by radical surgery involving only the anterior elements. A 67-year-old woman who had numbness and muscle weakness in the lower limbs caused by metastatic spinal tumor at the posterior element fusion level of L1-L3 vertebrae was treated with radical surgery of only the anterior element to gain stability. Similar situations may occur in cases involving other malignant tumor metastases or spinal primary tumors. If such a case occurs, this method could be useful in preventing metastasis to the posterior element.
Case report: A case of classic hairy cell leukemia with CNS involvement treated with vemurafenib
Authors: Anna E Johnson, Athul Raj Raju, Aasems Jacob, Gerhard C Hildebrandt
Journal: Front Oncol (2023)
Keywords: brain metastasis, hairy cell, hairy cell leukemia, hematologic malignancies, leukemia, vemurafenib
MeSH terms: Case Reports

Hairy cell leukemia (HCL) is a rare mature B-cell lymphoproliferative disorder and most often presents as classic hairy cell leukemia. This entity is characterized by an indolent course and the presence of the BRAF V600E mutation. We report the case of an 80-year-old man with a history of classical hairy cell leukemia who presented with fatigue, dizziness, shortness of breath, blurring of vision, and headache. His initial diagnosis was 9 years prior, and he received treatments with cladribine, pentostatin, and rituximab. The workup showed an elevated white blood cell count with atypical lymphocytes, anemia, and thrombocytopenia. A peripheral blood smear confirmed HCL relapse, and a magnetic resonance imaging (MRI) of the brain showed diffuse, nonenhancing masses in the supratentorial and infratentorial regions of the brain. He was initiated on treatment with vemurafenib, with improvements in his white blood cell count and a recovery of his platelet count and hemoglobin. A repeat MRI of the brain after 3 months showed complete resolution of the lesions. Vemurafenib was discontinued after 6 months, with bone marrow biopsy showing no evidence of residual hairy cell leukemia. There have only been limited reports of HCL involvement in the central nervous system in the literature. Due to the rarity of the condition, it is not clear which treatments can be effective for intracranial disease control. Our report shows the successful use of vemurafenib, resulting in complete remission of relapsed HCL with CNS involvement.
Long-Term Response to Gemcitabine, Cisplatin, and Nab-Paclitaxel Followed by Maintenance Therapy for Advanced Gallbladder Cancer: A Case Report and Literature Review
Authors: Ting Liu, Qing Li, Wenjie Zhang, Qing Zhu
Journal: Front Oncol (2021)
Keywords: case report, complete response, gallbladder cancer, maintenance therapy, nab-paclitaxel
MeSH terms: Case Reports

Background:
Gallbladder cancer (GBC) is the most common and devastating tumor type of biliary tract cancer (BTC) with poor outcomes. A new combined regimen of gemcitabine, cisplatin, plus nab-paclitaxel is currently considered an effective option for patients with advanced BTC following the results of a phase II trial. In addition, maintenance therapy after first-line treatment has been shown to improve disease control rate of various solid tumors but has not been evaluated for GBC patients. The scenario we report herein is of a metastatic GBC patient treated with the triple-drug regimen followed by maintenance therapy with capecitabine or S-1, who achieved a long-term survival benefit.
Case presentation:
A 68-year-old man was diagnosed with gallbladder adenocarcinoma with liver, supra-diaphragmatic, and abdominal lymph node metastases (cT3N2M1, stage IVB). Partial response (PR) was achieved after five cycles of gemcitabine and cisplatin chemotherapy. A further three cycles of nab-paclitaxel plus gemcitabine-cisplatin regimen yielded a complete response of all tumor lesions. Subsequent administration of maintenance therapy with capecitabine followed by S-1 achieved a disease-free survival of 15 months for the patient. Moreover, the patient remained responsive to this triple-drug regimen when the disease progressed, achieving PR after two cycles of chemotherapy. Overall, the treatment regimens were well tolerated with no grade 3 or higher adverse effects occurring. Notably, the serum carbohydrate antigen 199 (CA199) levels were closely related to the treatment response and increased before the lesions were found on PET-CT during follow-up.
Conclusion:
Our findings suggested that adding nab-paclitaxel into gemcitabine-cisplatin regimen may result in a favorable efficacy in patients with advanced GBC. Further maintenance therapy with capecitabine or S-1 after first-line therapy appeared to be a reasonable option for these patients, and it is valuable to monitor CA199 levels during treatment and follow-up.
An Unusual Cause of Intestinal Obstruction in a Young Adult Patient: Inflammatory Fibroid Polyp
Authors: Meryem Rais, Hafsa Chahdi, Mohammed Elfahssi, Abderrahmane Albouzidi, Mohamed Oukabli
Journal: Case Rep Surg (2017)
MeSH terms: Case Reports

Inflammatory fibroid polyps are uncommon benign lesions that originate in the submucosa of the gastrointestinal tract. The stomach and the ileum are the most commonly affected sites. Although inflammatory fibroid polyp is one of the rare conditions leading to intestinal obstruction in adults, it should be considered as a possible diagnosis in obstructive tumors of the small bowel causing intussusceptions. We present one case of inflammatory fibroid polyp as a rare cause of intussusception in a young adult patient.
Successful Treatment of Posttransplant EBV-Associated Lymphoma and Plasmacytoma Solely Localized to the CNS
Authors: Per Boye Hansen, Signe Ledou Nielsen
Journal: Case Rep Hematol (2012)
MeSH terms: Case Reports

Two patients with diabetic nephropathy were diagnosed with primary central nervous system posttransplant Epstein-Barr-virus-associated lymphoproliferative disorder (PTLD) 3 years after renal transplantation. The histological diagnoses of the isolated brain tumors were diffuse large B-cell lymphoma and plasmacytoma. Considerable co-morbidity precluded intensive chemotherapy. The first patient with lymphoid CD20+ PTLD had a partial resection of her tumor performed. She was treated with 4 weekly doses of rituximab, ganciclovir and prednisolone; the posttransplant immune suppression (tacrolimus) was reduced. After 4 weeks of treatment a magnetic resonance imaging (MRI) demonstrated complete regression of the CNS lesion. The patient continues to receive rituximab (every second month), valgangciclovir and low-dose prednisolone. Twenty-two months after initiation of therapy, she is still in complete remission. The second patient was only treated with craniospinal irradiation involving the medulla to the second cervical vertebra and valgangciclovir. Moreover, the posttransplant immune suppression was reduced. A new MRI two months after initiation of therapy showed a complete regression of the lesions in the CNS; this was again demonstrated by a MRI after 19 months. These 2 cases illustrate interesting alternative treatments of PTLD. To our knowledge, an EBV-associated PTLD of plasmacytic origin isolated to the CNS has never been described before.
Calcification in Thoracic Splenosis
Authors: Tofura Ullah, Sneh Chauhan, Joseph Friedman, Gideon Yoeli, Maximo Mora, Craig A Thurm
Journal: Case Rep Pulmonol (2022)
MeSH terms: Case Reports

Splenosis is a rare condition described as the implantation of ectopic splenic tissue, usually after a splenic rupture. Thoracic splenosis refers to acquired ectopic splenic tissue found within the thoracic cavity, often caused by thoracoabdominal trauma or surgery. Most cases are asymptomatic and many years may elapse before they are incidentally discovered on chest radiography or thoracic computed tomography. Splenosis is often misinterpreted as a malignancy on initial imaging. We wish to highlight a rare case of thoracic splenosis presenting with calcified and non-calcified nodules. Only two other cases of calcification have been reported in intrathoracic splenosis, neither of which provided CT images of this finding.
Primary Yolk Sac Tumor in the Cerebellar Hemisphere: A Case Report and Literature Review of the Rare Tumor
Authors: Na Wu, Qiang Chen, Meng Chen, Jinbo Ning, Shulei Peng, Taotao Zhang, Wen Zhong, Song Duan, Chongjie Cheng, Yimin Xie
Journal: Front Oncol (2021)
Keywords: cerebellar hemisphere, endodermal sinus tumor, microsurgery, subtotal resection, yolk sac tumor
MeSH terms: Review

Yolk sac tumor (YST) is one of rare malignant germ cell tumors (GCTs). Primary intracranial YST, also endodermal sinus tumor (EST), is a quite rare type of brain tumor. Here, we report a case of YST, review the relevant literature, and propose a treatment strategy for this rare tumor. A 6-year-old boy initially manifested symptoms of dizziness and vomiting. Computed tomography (CT) and magnetic resonance imaging (MRI) showed a large irregular oval tumor in the cerebellar hemisphere. We subtotally removed the tumor by microsurgery through the left suboccipital approach. Immunohistochemical staining showed that alpha fetoprotein (AFP) was positive and the Ki-67 proliferation index was high (60%), suggesting a germ cell tumor. After 3 months of follow-up, neither recurrence of tumor nor complications were found in the patient. The diagnosis of YST should be confirmed on the basis of clinical manifestations, neuroimaging and pathological findings. Gross total resection (GTR) is an ideal treatment for YST. However, due to the location of the tumor, GTR is usually difficult, and the rate of postoperative complications is high. This reported case shows that subtotal resection can be a good treatment strategy for YST.
Esophageal foreign body removal under holmium laser-assisted gastroscope: A case report
Authors: Zhe Yang, Shanyu Qin, Xiaomin Li
Journal: Front Surg (2023)
Keywords: case report, esophageal foreign body, foreign body removal, holmium laser, thoracic esophageal
MeSH terms: Case Reports

As a common clinical emergence, esophageal foreign body can lead to esophageal perforation followed by severe complications including aortic injury, mediastinal abscess and airway obstruction, leading to a high rate of mortality. Therefore, fast and effective diagnosis and treatment are of great necessity. In this case, holmium laser-assisted gastroscopy was adopted to remove the foreign body incarcerated in the esophagus, allowing patients to avoid traumatic and costly surgeries. It is a supplement to traditional methods of foreign body removal. The new combination tried in this report can bring development and innovation inspiration to the development of endoscopic technology.