OpenMed/multicare-articles huggingface dataset:
A Rare Case of Embryonal Rhabdomyosarcoma of the Uterine Cervix
Authors: Vishal Bahall, Lance De Barry, Steven Sankar
Journal: Case Rep Pathol (2022)
MeSH terms: Case Reports

Embryonal rhabdomyosarcoma (RMS) of the uterine cervix is an exceedingly rare mesenchymal tumor that accounts for less than 1% of all cervical cancers. This highly malignant tumor primarily affects adolescents and young adults. Due to the paucity of publications on this clinical entity, there are no clearly established treatment protocols. However, a multimodal approach to treatment that involves surgical intervention combined with adjuvant chemoradiotherapy appears to improve patient outcomes. Herein, we report a case of embryonal rhabdomyosarcoma of the uterine cervix in a 24-year-old female, who presented with an exophytic cervical mass and vaginal bleeding. Histopathology and immunohistochemistry confirmed embryonal rhabdomyosarcoma of the uterine cervix with extension into the lower uterine segment. This patient was successfully managed with a combination of neoadjuvant chemoradiotherapy, a total abdominal hysterectomy with bilateral salpingo-oophorectomy, and adjuvant chemoradiotherapy.
Histoplasma Peritonitis: An Extremely Rare Complication of Peritoneal Dialysis
Authors: Asjad Sardar, Bijin Thajudeen, Pradeep V Kadambi
Journal: Case Rep Nephrol (2018)
MeSH terms: Case Reports

Bacterial peritonitis is a common complication of peritoneal dialysis, but fungal peritonitis is unusual and is mostly due to Candida species. Peritonitis due to Histoplasma capsulatum is rare and we report one such case. A 63-year-old female presented with progressively worsening abdominal pain, fever, and altered mental status. She had end-stage renal disease and had been on peritoneal dialysis for 4 years. She had abdominal tenderness without rebound or guarding. Laboratory studies and CT of abdomen were significant for leukocytosis and peritoneal membrane thickening, respectively. Peritoneal dialysis fluid study was consistent with peritonitis and culture of the fluid grew Histoplasma capsulatum. Treatment recommendations include removal of catheter and initiation of antifungal therapy. With the availability of newer antifungals, medical management without removal of PD catheter is possible, but at the same time if there is no response to treatment within a week, PD catheter should be removed promptly.
Antitubular Basement Membrane Antibody Disease Associated with Nivolumab Infusion and Concomitant Acute Pyelonephritis Leading to Acute Kidney Injury : a Case Report and Literature Review
Authors: Ahmad Oussama Rifai, Kristin M Denig, Tiffany Caza, Shana M Webb, Sarah Rifai, Sarah Khan, Sally Dahan, Samaa Alamin
Journal: Case Rep Nephrol (2023)
MeSH terms: Case Reports

Antitubular basement membrane (anti-TBM) antibody disease is an extremely rare disorder. It may be idiopathic or secondary to exposure of the proximal tubular basement membrane, triggered by tubular injury due to acute pyelonephritis, acute allergic interstitial nephritis, or kidney allograft rejection. The histopathology of anti-TBM antibody disease is characterized by strong linear deposits of IgG with complement C3 along the proximal tubular cell basement membranes. The staining is restricted to proximal tubules. Currently, a kidney biopsy with these pathognomonic findings is the only diagnostic method. Serological testing and titers for anti-TBM antibodies are not clinically standardized. Our patient had pyelonephritis and possibly acute allergic interstitial nephritis as a result of nivolumab infusion. The kidney biopsy demonstrated dense interstitial infiltrates of neutrophil-rich interstitial inflammation, neutrophilic casts, and neutrophilic tubulitis consistent with acute pyelonephritis, as well as areas of mixed inflammation with lymphocytic tubulitis suggesting concurrent acute interstitial nephritis. The presence of linear IgG staining along proximal but not distal tubular basement membranes was diagnostic of anti-TBM antibody disease, favored to be due to both triggers. The patient was treated with discontinuation of nivolumab, intravenous antibiotics, and corticosteroids and was supported with hemodialysis. After 6 weeks, the patient's kidney function recovered enough to discontinue hemodialysis and had significant renal improvement.
Variable Clinical Features in a Large Family With Diamond Blackfan Anemia Caused by a Pathogenic Missense Mutation in RPS19
Authors: Sarah Cole, Neelam Giri, Blanche P Alter, D Matthew Gianferante
Journal: Front Genet (2022)
Keywords: dba, genotype, inherited bone marrow failure syndrome, phenotype, ribosomopathy
MeSH terms: Case Reports

Introduction: Diamond Blackfan anemia (DBA) is an autosomal dominant ribosomopathy caused predominantly by pathogenic germline variants in ribosomal protein genes. It is characterized by failure of red blood cell production, and common features include congenital malformations and cancer predisposition. Mainstays of treatment are corticosteroids, red blood cell transfusions, and hematologic stem cell transplantation (HSCT). Despite a better understanding of the genotype of DBA, the biological mechanism resulting in the clinical phenotype remains poorly understood, and wide heterogeneity can be seen even within a single family as depicted here. Case Description: Thirty family members enrolled in the National Cancer Institute inherited bone marrow failure syndromes study were evaluated with detailed medical questionnaires and physical examinations, including 22 in the family bloodline and eight unrelated partners. Eight participants had been previously told they had DBA by clinical criteria. Targeted germline RPS19 testing was done on all family members. A pathogenic heterozygous missense mutation in RPS19 (p.R62Q, c.185G > A) was detected in ten family members, including one person previously presumed unaffected. Eight family members presented with macrocytic anemia in infancy; all of whom were responsive to prednisone. Four family members became treatment independent; however, one individual became transfusion-dependent 36 years later following an episode of pneumonia. One prednisone responsive individual electively discontinued steroid treatment, and lives with severe anemia. One prednisone responsive individual died at age 28 from a stroke. Two family members developed colorectal cancer in their fifties; one had never required treatment for anemia. None had major congenital anomalies. Discussion: This large family with DBA demonstrates the heterogeneity of phenotypes that can be seen within the same genotype. Most family members presented with steroid-responsive anemia in infancy and subtle congenital malformations, findings consistent with recent genotype-phenotype studies of RPS DBA. However, two family members were relatively unaffected, underscoring the importance of further studies to assess modifier genes, and epigenetic and/or environmental factors which may result in normal erythropoiesis despite underlying ribosome dysfunction. This large, multigenerational family highlights the need for individualized treatment, the importance of early cancer surveillance even in individuals with clinically mild phenotypes, and the benefit of long-term follow-up to identify late complications.
The Device of Ethylene Vinyl Acetate Sheet for Trismus Caused by Bilateral Mandible Fractures
Authors: Yoshiaki Ihara, Yuka Nakamichi, Yuichi Tashimo, Shinji Nozue, Kota Hayashi, Mitsunori Ishiguro, Koji Takahashi
Journal: Case Rep Dent (2021)
MeSH terms: Case Reports

Trismus is commonly caused by temporomandibular joint disorders and maxillofacial fractures. We report the case of a 62-year-old woman with trismus and difficulty in mastication caused by bilateral mandibular fractures. She had a maximal interincisal opening distance (MID) of 22 mm. Mouth-opening training was administered using a novel dental mouth-training device custom-made using ethylene vinyl acetate sheets and according to the dentition and extent of mouth-opening of the patient. After 2 months of training, the MID increased to 42 mm. With adequate training, this device is effective in treating trismus due to scarring.
In Vitro Fertilization Using Luteinizing Hormone-Releasing Hormone Injections Resulted in Healthy Triplets without Increased Attack Rates in a Hereditary Angioedema Case
Authors: Ceyda Tunakan Dalgıç, Fatma Düşünür Günsen, Gökten Bulut, Emine Nihal Mete Gökmen, Aytül Zerrin Sin
Journal: Case Reports Immunol (2018)
MeSH terms: Case Reports

Hereditary angioedema due to C1-inhibitor deficiency (C1-INH-HAE) is a rare, autosomal dominant disorder. The management of pregnant patients with C1-INH-HAE is a challenge for the physician. Intravenous plasma-derived nanofiltered C1-INH (pdC1INH) is the only recommended option throughout pregnancy, postpartum, and breastfeeding period. In order to increase pregnancy rates, physicians use fertilization therapies increasing endogen levels of estrogens. Therefore, these techniques can provoke an increase in the number and severity of edema attacks in C1-INH-HAE. Our patient is a 32-year-old female, diagnosed with C1-INH-HAE type 1 since 2004. She had been taking danazol 50-200 mg/day for 9 years. Due to her pregnancy plans in 2013, danazol was discontinued. PdC1INH was prescribed regularly for prophylactic purpose. Triplet pregnancy occurred by in vitro fertilization using luteinizing hormone-releasing hormone (LHRH) injections. In our patient, LHRH injections were done four times without causing any severe attack during in vitro fertilization. Angioedema did not worsen during pregnancy and delivery due to the prophylactic use of intravenous pdC1INH in our patient. According to the attack frequency and severity, there was no difference between the three pregnancy trimesters. To our knowledge, this is the first published case of C1-INH-HAE receiving in vitro fertilization therapies without any angioedema attacks during pregnancy and delivery and eventually having healthy triplets with the prophylactic use of intravenous pdC1INH.
Papillary fibroelastoma of the aortic valve in association with rheumatic heart disease: a case report
Authors: Jun Shi, Zhi-xuan Bai, Ben-gui Zhang, Ying-qiang Guo
Journal: J Cardiothorac Surg (2016)
MeSH terms: Fibroma / diagnosis, Heart Neoplasms / diagnosis, Rheumatic Heart Disease / diagnosis, Case Reports, Research Support, Non-U.S. Gov't, Aortic Valve / surgery, Female, Fibroma / complications, Fibroma / surgery, Heart Neoplasms / complications, Heart Neoplasms / surgery, Humans, Middle Aged, Rheumatic Heart Disease / complications, Rheumatic Heart Disease / surgery

Background:
Papillary fibroelastoma (PFE) is a rare primary cardiac neoplasm that is usually discovered incidentally at autopsy or during cardiac surgery. PFE combined with rheumatic heart disease (RHD) is extremely rare, and only a few cases have been reported. Additionally, the growth rate of the tumor is unknown.
Case presentation:
Here, we present a very rare case of PFE of the aortic valve combined with RHD, which were identified in a female patient who survived for 5 years without surgical intervention, and who subsequently underwent successful surgical treatment.
Conclusions:
PFEs may be generally slow-growing tumors, however, the better treatment of choice may be surgery because it produces good curative effects with very low risk of complications, while preventing serious disease consequences.
Postoperative chylothorax after left pulmonary wedge resection without mediastinal lymph node dissection: a case report
Authors: Li Chen, Bo Tian, Shaohua Xie, Xing Wei, Qiang Li, Bin Hu
Journal: J Surg Case Rep (2023)
MeSH terms: Case Reports

Postoperative chylothorax is a rare but serious complication after pulmonary resection. In previous studies, we have found no reports of postoperative chylothorax after left pulmonary wedge resection. Considering the many variations in the route of the thoracic duct, it also has the risk of postoperative chylothorax. We describe a case of refractory chylothorax after left pulmonary wedge resection without mediastinal lymph node dissection. Conservative treatment and supradiaphragmatic thoracic duct ligation did not obtain satisfactory results in this patient. Finally, under the guidance of magnetic resonance-thoracic ductography (MRTD), we successfully ligated the thoracic duct fistula. Thus, MRTD may contribute positively to being used to locate the thoracic duct and its fistula to support precise surgical intervention.
Clinical Profile and Outcome of Esophageal Button Battery Ingestion in Children: An 8-Year Retrospective Case Series
Authors: Mustafa Erman Dörterler
Journal: Emerg Med Int (2019)

Objective:
To present the clinical profile and outcomes of esophageal button battery ingestion cases treated at our institution over an 8-year period.
Methods:
A total of 17 children who presented after ingesting a button battery and were treated at a tertiary care clinic over an 8-year period were included in this retrospective case series study. Data on patient demographics and esophageal location of the battery, time from ingestion to admission, symptoms, grade of mucosal injury, size of the battery, management, complications, and follow-up outcome were recorded.
Results:
Median age was 29 months (range, 2-99 months). Boys comprised (n=11, 64.7%) of the study population. The most common location was the proximal esophagus (n=10, 58.8%). The median time from ingestion to admission was 6 h (range, 3-24 h). Hypersalivation alone (n=6, 35.3%) or together with vomiting (n=5, 29.4%) was the most common symptom. Grade IIA mucosal injury was noted in six (n=6, 35.3%) patients. The diameter of the battery was a median of 18.0 mm (range, 14-22 mm). We did not observe any correlation between the size of the battery and the grade of the injury. Early postoperative complications were encountered in one patient (n=1, 5.8%) and late postoperative complications were noted in eight patients (n=8, 47.1%) which required further esophageal dilatations, and follow-up revealed normal findings in eight patients (n=8, 47.1%) and mortality occurred in one patient.
Conclusion:
The current case series study describing the clinical profiles and outcomes of 17 children who had ingested an esophageal button battery revealed male predominance, young patient age, and admission after a median of 6 h (3-24 h) of ingestion with nonspecific symptoms. Our findings confirm the success of rigid endoscopy to remove esophageal button batteries and indicate the likelihood of severe complications after removal.
A Rare Presentation of Sarcoidosis as a Pancreatic Head Mass
Authors: Shruti Mony, Pradnya D Patil, Rebekah English, Ananya Das, Daniel A Culver, Tanmay S Panchabhai
Journal: Case Rep Pulmonol (2017)
MeSH terms: Case Reports

Sarcoidosis is a multisystem granulomatous syndrome of unknown etiology with noncaseating epithelioid granulomas being the pathognomonic pathological finding. Sarcoidosis most commonly involves the lungs and involvement of the gastrointestinal (GI) tract is uncommon. Pancreatic sarcoidosis is very rare, especially when it is the presenting feature of sarcoidosis and can masquerade as pancreatic cancer. Tissue infiltration in pancreatic sarcoidosis can lead to either a diffuse nodular appearance or a mass-like lesion. We present an interesting case of a 47-year-old woman with a 10-pack-year history of smoking who presented with sharp epigastric pain, weight loss, and elevated lipase level. CT and MRI imaging showed a 4 cm × 5 cm heterogeneous pancreatic mass with a dilated pancreatic duct and peripancreatic lymphadenopathy. Endoscopic ultrasound guided FNA revealed noncaseating granulomas with no evidence of malignancy or atypical infection. CT of the chest revealed bilateral mediastinal and hilar adenopathy with calcification, without any parenchymal abnormalities, and her angiotensin-converting enzyme level was elevated at 170 U/L. The clinical picture pointed to the diagnosis of pancreatic sarcoidosis. Given the severity of gastrointestinal symptoms related to pancreatic sarcoidosis, prednisone therapy at 0.5 mg/kg/day was initiated with complete resolution of symptoms at 8 weeks.
Case report: Amphiphysin-IgG autoimmunity: a paraneoplastic presentation of appendiceal goblet cell carcinoma
Authors: Jingfang Lin, Tianping Yu, Minjin Wang, Jierui Wang, Jinmei Li
Journal: Front Immunol (2023)
Keywords: amphiphysin, appendiceal goblet cell carcinoma, paraneoplastic neurological syndromes, pathological findings, tremors
MeSH terms: Appendiceal Neoplasms, Carcinoma, Encephalitis, Paraneoplastic Syndromes / diagnosis, Paraneoplastic Syndromes / etiology, Case Reports, Autoantibodies, Autoimmunity, Goblet Cells, Humans, Immunoglobulin G, Male, Middle Aged, amphiphysin, Immunoglobulin G, Autoantibodies

Background:
Appendiceal goblet cell carcinoma (aGCC) is a rare neoplasm with mixed endocrine and exocrine features. No paraneoplastic neurological syndromes or autoantibodies have been identified in cases of aGCC or even appendiceal tumors. Amphiphysin-immunoglobulin G (IgG) autoimmunity was first described in stiff-person syndrome with breast cancer. We firstly described the clinical course and pathological findings of a patient with aGCC-associated amphiphysin-IgG autoimmunity.
Case presentation:
A 54-year-old man who developed aGCC was admitted for acute disturbance of consciousness, psychiatric symptoms, cognitive impairment, seizure and hypotension. Amphiphysin-IgG was detected in the patient's serum and CSF by immunoblotting and tissue-based indirect immunofluorescence assay confirming the diagnosis of definite paraneoplastic amphiphysin-IgG-positive encephalitis. Histopathology revealed amphiphysin protein expression and accompanying immune cell infiltration (predominantly CD20+ B cells, CD3+ and CD8+ T cells) within the tumor tissue, suggesting a possible paraneoplastic origin of amphiphysin-associated paraneoplastic neurological syndromes (PNSs) in this case. Although the patient's symptoms resolved after high-dose corticosteroid therapy, he experienced recurrence 6 months later, manifesting as paraneoplastic cerebellar dysfunction. Despite treatment with IV cyclophosphamide and oral mycophenolate mofetil, no improvement was noted.
Conclusions:
This case suggests that aGCC may trigger amphiphysin-IgG autoimmunity.
A Case Report: First Long-Term Treatment With Burosumab in a Patient With Cutaneous-Skeletal Hypophosphatemia Syndrome
Authors: Lea Maria Merz, Florian Buerger, Niels Ziegelasch, Martin Zenker, Ilse Wieland, Tobias Lipek, Tillmann Wallborn, Nicolas Terliesner, Freerk Prenzel, Manuela Siekmeyer, Katalin Dittrich
Journal: Front Endocrinol (Lausanne) (2022)
Keywords: burosumab, cutaneous-skeletal-hypophosphatemia-syndrome, epidermal nevus syndrome, hypophosphatemia, hypophosphatemic rickets
MeSH terms: Familial Hypophosphatemic Rickets / complications, Familial Hypophosphatemic Rickets / drug therapy, Hypophosphatemia / chemically induced, Hypophosphatemia / drug therapy, Rickets, Hypophosphatemic, Case Reports, Research Support, Non-U.S. Gov't, Antibodies, Monoclonal, Humanized, Child, Preschool, Female, Humans, Syndrome, Antibodies, Monoclonal, Humanized, burosumab

Epidermal nevus syndromes encompass a highly heterogeneous group of systemic disorders, characterized by epidermal nevi, and a spectrum of neuromuscular, ocular, and bone abnormalities. Cutaneous-skeletal hypophosphatemia syndrome (CSHS) constitutes a specific sub-entity in which elevated levels of fibroblast growth factor-23 cause hypophosphatemic rickets that are, to date, not amenable to causal therapy. Here, we report the first long-term follow-up of causal treatment with burosumab in a 3-year-old female patient with CSHS. 4 weeks after initiation of burosumab treatment, serum phosphate normalized to age-appropriate levels. Furthermore, long-term follow-up of 42 months revealed significant improvement of linear growth and gross physical functions, including respiratory insufficiency. Radiographic rickets severity as well as subjective bone pain were strongly reduced, and no side effects were observed over the course of treatment. In summary, we, here, report about a successful treatment of hypophosphatemic rickets in CSHS with burosumab over the time course of 42 months. In our patient, burosumab showed convincing efficacy and safety profile, without any loss of effect or increase of dose.
A Case of Sporadic Creutzfeldt-Jakob Disease Presenting as Conversion Disorder
Authors: Nikhil Yegya-Raman, Rehan Aziz, Daniel Schneider, Anthony Tobia, Megan Leitch, Onyi Nwobi
Journal: Case Rep Psychiatry (2017)
MeSH terms: Case Reports

Background. Creutzfeldt-Jakob disease is a rare disorder of the central nervous system. Its initial diagnosis may be obscured by its variable presentation. This case report illustrates the complexity of diagnosing this disease early in the clinical course, especially when the initial symptoms may be psychiatric. It offers a brief review of the literature and reinforces a role for consultation psychiatry services. Methods. PUBMED/MEDLINE was searched using the terms "Creutzfeldt-Jakob disease", "psychiatric symptoms", "conversion disorder", "somatic symptom disorder", "functional movement disorder", and "functional neurologic disorder". Case. The patient was a 64-year-old woman with no prior psychiatric history who was initially diagnosed with conversion disorder and unspecified anxiety disorder but soon thereafter was discovered to have Creutzfeldt-Jakob disease. Discussion. This case highlights the central role of psychiatric symptoms in early presentations of Creutzfeldt-Jakob disease. Still, few other cases in the literature report functional neurological symptoms as an initial sign. The consultation psychiatrist must remain alert to changing clinical symptoms, especially with uncharacteristic disease presentations.
Sympathetic blocks provided sustained pain relief in a patient with refractory painful diabetic neuropathy
Authors: Jianguo Cheng, Anuj Daftari, Lan Zhou
Journal: Case Rep Anesthesiol (2012)
MeSH terms: Case Reports

The sympathetic nervous system has been implicated in pain associated with painful diabetic neuropathy. However, therapeutic intervention targeted at the sympathetic nervous system has not been established. We thus tested the hypothesis that sympathetic nerve blocks significantly reduce pain in a patient with painful diabetic neuropathy who has failed multiple pharmacological treatments. The diagnosis of small fiber sensory neuropathy was based on clinical presentations and confirmed by skin biopsies. A series of 9 lumbar sympathetic blocks over a 26-month period provided sustained pain relief in his legs. Additional thoracic paravertebral blocks further provided control of the pain in the trunk which can occasionally be seen in severe diabetic neuropathy cases, consequent to extensive involvement of the intercostal nerves. These blocks provided sustained and significant pain relief and improvement of quality of life over a period of more than two years. We thus provided the first clinical evidence supporting the notion that sympathetic nervous system plays a critical role in painful diabetic neuropathy and sympathetic blocks can be an effective management modality of painful diabetic neuropathy. We concluded that the sympathetic nervous system is a valuable therapeutic target of pharmacological and interventional modalities of treatments in painful diabetic neuropathy patients.