OpenMed/multicare-articles huggingface dataset:
Congenital Diaphragmatic Hernia with Intrathoracic Renal Ectopia: Thoracoscopic Approach for a Complete Anatomical Repair
Authors: Colin Mizzi, David Farrugia, Muhammad S Choudhry
Journal: European J Pediatr Surg Rep (2020)
Keywords: diaphragmatic hernia, intrathoracic kidney, renal ectopia
MeSH terms: Case Reports

Congenital diaphragmatic herniae (CDH) with associated intrathoracic ectopic kidneys are rare congenital anomalies, with a reported incidence of only 0.25%. The authors report a case of a 24-day-old baby girl who was diagnosed with a left-sided CDH on a chest X-ray taken for pneumonia. Computed tomography scan showed CDH hernia, containing small and large bowel and whole left kidney with adrenal gland. Thoracoscopic reduction in the bowel, kidney, and adrenal gland into the abdomen and primary closure of the defect was achieved with no complications. During investigation of the child, it was discovered that her maternal aunt had also had a left-sided congenital diaphragmatic hernia containing the kidney, which was treated via open surgery after birth; she subsequently developed renal cell carcinoma and required radical nephrectomy of that kidney during her third decade.
The coexistence of systemic lupus erythematosus and thyrotoxicosis: the diagnostic value of antihistone antibodies
Authors: Marta Baleva, Krasimir Nikolov, Emil Manov, Anastas Stoikov, Rebhat Shabani, Lyubomir Dourmishev, Milena Nikolova
Journal: Case Rep Rheumatol (2012)
MeSH terms: Case Reports

We report four female patients with Graves' disease with positive ANA antibodies and possibility for development of systemic lupus erythematosus. All four patients have been treated with antithyroid drugs. SLE symptoms have appeared from 4 to 12 months after the beginning of therapy with methysol in two of them. The third patient had no symptoms for SLE, but her ANA, anti-DNA, and antihistone antibodies had been positive at the time of the onset of thyrotoxicosis. The fourth patient had alopecia areata with positive ANA and antihistone antibodies.
Malignant adenomyoepithelioma of the breast: A rare case report
Authors: Mi Jin Kim, Cheol Seung Kim, Myoug Jin Ju, Young Sam Park
Journal: Int J Surg Case Rep (2019)
Keywords: adenomyoepithelioma, breast cancer, breast neoplasms, malignant neoplasm of breast, myoepithelial tumor

Introduction:
Adenomyoepithelioma of the breast is a rarely reported and mostly benign disease that seldom undergoes malignant transformation.
Presentation of the case:
Here, we present a case of malignant adenomyoepithelioma of the breast in a patient who initially presented with pain following an excision procedure at local clinic. The condition was finally diagnosed after a third surgical procedure, pathologic analysis with hematoxylin and eosin staining, and immunohistochemistry analysis to detect smooth muscle actin and S100 expression.
Conclusion:
The patient developed no complications or recurrences after a total mastectomy with sentinel node dissection.
High-Risk Neuroblastoma with Metastases to Bilateral Kidneys at Diagnosis
Authors: Toshihide Yoshikawa, Akihiko Tanizawa, Koji Suzuki, Kazumi Ikeda, Eishi Nomura, Yumekichi Maeda, Nanae Tanaka, Kenta Yamada, Yasuhiro Sakai, Yoshiaki Imamura, Yusei Ohshima
Journal: Case Rep Pediatr (2017)
MeSH terms: Case Reports

Renal metastasis at diagnosis with neuroblastoma is rare. We present a 14-month-old boy who was diagnosed with high-risk neuroblastoma with multiple metastases, including bilateral kidneys. He received five cycles of induction chemotherapy and high-dose chemotherapy with autologous peripheral blood stem cell transplantation. All of the lesions shrank, and magnetic resonance imaging indicated that some of the metastases had disappeared. However, there were residual masses in the bilateral kidneys, and histological examination revealed the presence of tumor cells. Therefore, the patient underwent unrelated cord blood stem cell transplantation, which involved killer-ligand incompatibility in the graft-versus-host direction, in addition to human leukocyte antigen C and DRB1 mismatches. Three months later, tumor progression occurred from the residual mass in the sacral canal and a new lesion in the pancreas. Although tumor progression could not be controlled by additional chemotherapy and local radiotherapy, the metastatic nodules in bilateral kidneys did not increase in size before his death. To the best of our knowledge, this is the first report of neuroblastoma with bilateral renal metastases in the English medical literature. In addition, this case suggests that the combination of chemotherapy and immunotherapy may inhibit the progression of the renal lesions under certain conditions.
Abiotrophia defectiva causing infective endocarditis with brain infarction and subarachnoid hemorrhage: a case report
Authors: Miaojuan Yang, Yanxia Lin, Xin Peng, Jingsong Wu, Bo Hu, Yitao He, Jian Lu
Journal: Front Med (Lausanne) (2023)
Keywords: abiotrophia defectiva, brain infarction, infective endocarditis, microbial mass spectrometry, subarachnoid hemorrhage
MeSH terms: Case Reports

Introduction:
A rare pathogen of Infective Endocarditis (IE), the Abiotrophia defectiva, has been known to trigger life-threatening complications. The case discussed here is of a teenager with brain infarction and subarachnoid hemorrhage caused by IE due to A. defectiva.
Case report:
A 15-year-old girl with movement disorders involving the left limbs and intermittent fevers was admitted to the hospital. A head CT scan revealed cerebral infarction in the right basal ganglia and subarachnoid hemorrhage. Moreover, vegetation on the mitral valve were confirmed by echocardiography. The blood cultures were found to be positive for Gram-positive streptococcus and identified by Vitek mass spectrometry as A. defectiva. She was prescribed vancomycin antibacterial therapy and underwent a surgical mitral valve replacement.
Conclusion:
This case is suggestive of the fact that A. defectiva is a rare but crucial pathogen of IE-associated stroke. Obtaining early blood cultures and using microbial mass spectrometry could help achieve an accurate diagnosis. Moreover, reasonable anti-infective medications and surgical interventions need to be combined to avoid and/or manage severe complications.
Diagnosis and ECMO Treatment of a Critically Ill Patient With Disseminated Mycobacterium tuberculosis: A Case Report
Authors: Xiuling Shang, Hongxuan Zhang, Sheng Chen, Chen Wang, Meifu Lin, Rongguo Yu
Journal: Front Public Health (2022)
Keywords: acute respiratory distress syndrome, critical care (icu), disseminated mycobacterium tuberculosis, extra-corporeal membrane oxygenation, infection
MeSH terms: Extracorporeal Membrane Oxygenation, Mycobacterium tuberculosis, Respiratory Distress Syndrome / etiology, Respiratory Distress Syndrome / therapy, Case Reports, Adult, Critical Illness / therapy, Female, Humans, Positron Emission Tomography Computed Tomography

Background:

Mycobacterium tuberculosis infection remains a public health concern worldwide. The diagnosis and treatment of disseminated M. tuberculosis is very difficult, so we shared our experiences and lessons learned in this case report.
Case presentation:
A 36-year-old female with a history of epilepsy presented to our hospital with fever, upper abdominal pain, muscle soreness in limbs for 7 days, and shortness of breath for 4 days. On admission, she presented with acute respiratory distress syndrome (ARDS) and liver dysfunction. Due to the critical nature of her clinical presentation, the patient was admitted directly to the Intensive Care Unit (ICU), received mechanical ventilation in prone position and VV-ECMO treatment. Her condition improved gradually, and the ECMO was removed after 7 days and she was weaned off the ventilator after 8 days. However, her fever recurred and she underwent PET-CT examination, liver contrast ultrasound, acid-fast staining and second-generation sequencing of cerebrospinal fluid, which confirmed M. tuberculosis infection.
Conclusion:
This case report briefly described the treatment and diagnosis of a critically ill patient with intra and extra-pulmonary tuberculosis infection. Timely and appropriate treatment is crucial to save lives, but the timing of ECMO treatment needs to be carefully considered for patients with ARDS caused by tuberculosis.
Advanced Mesodermal (Müllerian) Adenosarcoma of the Ovary: Metastases to the Lungs, Mouth, and Brain
Authors: A Daskalaki, S Xenaki, E Athanasakis, E Chrysos, G Chalkiadakis
Journal: Case Rep Surg (2015)

Background. A malignant mixed Müllerian tumor (MMMT) is a malignant neoplasm found in the uterus, the ovaries, the fallopian tubes, and other parts of the body that contains both carcinomatous (epithelial tissue) and sarcomatous (connective tissue) components. Outcome of MMMTs is determined primarily by depth of invasion and stage. The metastatic background of these lesions is controversial and unknown. Case Report. A 75-year-old woman was admitted to the hospital with anorexia, weakness, and persistent coughing. The imaging exams revealed a solid, promiscuous lesion of 16 × 14 cm in dimensions located into the small pelvis, surrounding the uterus and the ovaries. The patient underwent exploratory laparotomy. The mass was removed and the histological examination of the specimen revealed an advanced mesodermal adenocarcinoma of the ovary (MMMT). Nine days after the operation the patient presented with metastatic lesions in the mouth as well as the lungs. Within a month after the discharge from the hospital metastatic lesions of the MMMT were also depicted in the CT brain scan. Conclusion. Despite the fact that sarcomas have a long-term metastatic potential, to our knowledge this is the first case of Müllerian adenosarcoma presenting with such extraperitoneal metastases.
Management of Airways through Rapid Tracheostomy in a Severely Burnt Patient Attended to via Helicopter
Authors: Orazio Stefano Giovanni Filippelli, Anna Maria Giglio, Simona Paola Tiburzi, Maria Teresa Archinà, Ercole Barozzi, Pietro Maglio, Stefano Candido, Roberta Viotti, Umberto Riccelli, Mario Pezzi, Carmelo Romano, Anna Maria Scozzafava, Maria Laura Guzzo
Journal: Case Rep Emerg Med (2021)
MeSH terms: Case Reports

In Catanzaro, Italy, an adult male with severe burns all over his body and in a state of coma was promptly rescued by the medical team at the air ambulance service (HEMS), who provided airway safety through laryngeal mask placement (LMA). The patient was subsequently transferred to the nearest Hub center, where an emergency tracheostomy was performed to ensure better airway management during the flight to the nearest available major burn center. This is the first documented case at regional level of a patient undergoing rapid tracheostomy through an imminent transfer with air ambulance.
Fluoro-18-fluorodeoxyglucose positron emission tomography/computed tomography detects Ewing's sarcoma of the larynx with multiple distant bone metastases: a case report and literature review
Authors: Xianwen Hu, Yan Liao, Rui Wang, Rui Wen, Dandan Li, Pan Wang, Jiong Cai
Journal: Front Med (Lausanne) (2023)
Keywords: ewing sarcoma, case report, computed tomography, larynx, positron emission tomography
MeSH terms: Case Reports

Ewing sarcomas (EWS) are highly malignant neoplasms of mesenchymal origin that are rare in the head and neck. Only a few laryngeal EWS have been reported in the literature. We report a 47 years-old man who visited our hospital for medical help after 5 months of hoarseness and sore throat. Computed tomography (CT) showed uneven thickening of the epiglottis fold, right vocal cord, and anterior union. In addition, fluoro-18-fluorodeoxyglucose positron emission tomography (18F-FDG PET)/CT has confirmed high activity in the already known laryngeal and nodal lesions, and has revealed otherwise unknown skeletal metastases. We also reviewed the published clinical features, histopathology, and imaging findings of nine patients with laryngeal EWS confirmed by pathology. The main clinical manifestations of laryngeal EWS are rapidly growing lumps, hoarseness, acute respiratory distress, and aphonia. The EWS tumor cells usually express CD99, vimentin, synaptophysin (Syn), and neuron-specific enolase (NSE) but do not express common antigen (LCA), CD20, and chromaffin granin (CgA). Laryngeal EWS' CT imaging characteristics are mainly homogeneous, well-bounded soft-tissue masses. Our case suggests that EWS should be considered a differential diagnosis of laryngeal cancer, especially when PET/CT reveals distant bone metastasis, which is more likely to indicate EWS.
Cystic Dystrophy of the Duodenal Wall with Underlying Heterotopic Pancreas
Authors: Olaia Chalh, Khaoula Sibbou, Ittimad Nassar
Journal: J Belg Soc Radiol (2022)
Keywords: mrcp, computed tomography, cystic dystrophy, duodenal wall, heterotopic pancreas
MeSH terms: Case Reports

Teaching Point: Cystic dystrophy of the duodenal wall is often associated with underlying heterotopic pancreas and easily assessed with advanced and noninvasive imaging modalities such as CT scan and MRCP.
Case Report: A rare case of small bowel obstruction secondary to plasma cell myeloma
Authors: Arturo Bonometti, Nicola Aronico, Giovanni Santacroce, Sara Fraticelli, Marco Lucioni, Claudio Salvatore Cartia, Alessandro Vanoli, Mario Andrea Latorre, Luca Arcaini, Marco Paulli, Antonio Di Sabatino
Journal: Front Oncol (2022)
Keywords: chemotherapy, extramedullary presentation, intestinal occlusion, plasma cell myeloma, small bowel
MeSH terms: Case Reports

Gastrointestinal (GI) involvement of plasma cell neoplasms is extremely rare. Herein, we describe the case of a 74-year-old Caucasian woman who came to our attention with abdominal pain, food vomiting, and weight loss of 10 kg over 1 year. A computed tomography scan of the abdomen revealed circumferential thickening of terminal ileum, for which the patient underwent an urgent 20-cm-long ileal resection. Histopathological and immunophenotypic analysis revealed a plasma cell neoplasm of the ileum. Subsequent investigations found a serum monoclonal immunoglobulin A component, an osteolytic lesion of the left jaw, and a clonal bone marrow plasma cell infiltrate carrying 1q21 amplification. Given the final diagnosis of plasma cell myeloma (PCM), the patient underwent a VMD (bortezomib, melphalan, and dexamethasone) chemotherapy regimen, achieving a complete remission after a 12-month treatment. For disease relapse, two further chemotherapy regimens were later attempted. At the last follow-up 4 years after the diagnosis, the patient is still alive. This case draws attention to the extramedullary presentation of plasma cell neoplasms, even if rare, as a prompt diagnosis seems to result in a better prognosis. In addition, it highlights the relevance of a multidisciplinary approach, involving gastroenterologists, hematologists, and pathologists, to the diagnosis and management of these neoplasms.
A de novo heterozygous POU3F3 genotype for the p.(Q214*) variant in a fetus with transient isolated bilateral mild ventriculomegaly: a case report and review of the literature
Authors: Hongyun Zhang, Siyuan Linpeng, Yanling Teng, Can Peng, Desheng Liang, Zhuo Li, Lingqian Wu
Journal: Front Pediatr (2023)
Keywords: pou3f3, snijders blok-fisher syndrome, transient isolated bilateral mild ventriculomegaly, truncating variant, whole-exome sequencing
MeSH terms: Case Reports

The prenatal prevalence of isolated ventriculomegaly is 0.039%-0.087%. Most isolated mild ventriculomegaly (MV) fetuses (>90%) have a favorable prognosis. However, 5.6% to 7.9% of fetuses with isolated MV have adverse neurodevelopmental outcomes. In this study, we reported the first case of prenatal Snijders Blok-Fisher syndrome (OMIM: #618604) caused by a truncating variant of POU3F3 (OMIM: *602480) in a fetus with transient isolated bilateral MV. The results of karyotype analysis, chromosomal microarray analysis, and TORCH infection evaluation for the fetus were all negative. However, a de novo likely pathogenic nonsense variant of NM_006236.3 (POU3F3): c.640C > T [rs1254251078] p.(Q214*) was identified by whole-exome sequencing (WES). Despite sufficient genetic counseling, the mother refused to undertake further brain magnetic resonance imaging (MRI) and decided to keep the fetus. She gave birth to a male infant through a full-term vaginal delivery. With a long-term follow-up, the infant unfortunately gradually presented with delayed motor development. The postnatal brain MRI of the proband showed dysplasia of the corpus callosum and ventriculomegaly. Considering the high probability of misdiagnosis for such cases, we further summarized the prenatal phenotypes from 19 reported patients with variants in POU3F3. The results revealed that 14 patients displayed a normal prenatal ultrasonographic manifestation, while only approximately 26.32% of fetuses showed MV or cysts without structural deformity. Thus our findings expand the variant spectrum of POU3F3 and suggest the importance of undertaking WES and brain MRI when the fetus has isolated bilateral MV.
Bone Augmentation Procedures in a Patient with Acromegaly
Authors: Laura Andreea Schiller, Albert Cristian Schiller, Adalbert Schiller, Aida Gabriela Dascalu, Silviu Brad
Journal: Case Rep Dent (2020)
MeSH terms: Case Reports

The objective of this clinical case is to evaluate if bone augmentation procedures can be successful in a patient with altered bone metabolism due to a systemic disease: acromegaly. Two guided bone regeneration procedures were made on the same patient: horizontal ridge augmentation with lateral wall approach sinus graft of the left maxilla and horizontal ridge augmentation of the front left maxilla. CBCT assessment of the new formed bone was made after a minimum of nine months and dental implants were placed. The results show that bone augmentation procedures can be successful in a patient with acromegaly, after pituitary adenoma removal, when autologous bone is not included in the grafting procedure.
Echovirus Type 7 Virus-Associated Hemophagocytic Syndrome in a Neonate Successfully Treated With Intravenous Immunoglobulin Therapy: A Case Report
Authors: Yuka Watanabe, Takahiro Sugiura, Mari Sugimoto, Yasuko Togawa, Masanori Kouwaki, Norihisa Koyama, Shinji Saitoh
Journal: Front Pediatr (2019)
Keywords: echovirus infections, hemophagocytic lymphohistiocytosis, intravenous immunoglobulin therapy, newborn, vertical transmission
MeSH terms: Case Reports

Virus-associated hemophagocytic syndrome (VAHS) in the neonatal period has a high mortality. Although clear diagnostic criteria and treatment methods have not been established, early diagnosis and treatment are critical. However, treatments for VAHS have potentially serious side effects, especially during the neonatal period. Echovirus type 7 can cause maternal infection around parturition and be vertically transmitted to the neonate and induce VAHS. Intravenous immunoglobulin (IVIG) therapy could be a first-line therapy for neonatal VAHS, so that treatments with potentially serious side effects, including cyclosporine A and etoposide, could be avoided. A case of VAHS associated with echovirus type 7 that was successfully treated with IVIG therapy is reported.
An Atypical Presentation of Pediatric Acute Neuropsychiatric Syndrome Responding to Plasmapheresis Treatment
Authors: Drew H Barzman, Hannah Jackson, Umesh Singh, Marcus Griffey, Michael Sorter, Jonathan A Bernstein
Journal: Case Rep Psychiatry (2018)
MeSH terms: Case Reports

Here we report a case of a 15-year-old female who had originally been diagnosed and treated unsuccessfully for schizophrenia, psychosis, severe anxiety, and depression. More in-depth history revealed an abrupt onset of her symptoms with remote acute infections and many exhibited characteristics of obsessive compulsive disorder with rituals. Work-up for underlying infectious, immunodeficiency, and autoimmune causes was unrevealing except for very high levels of anti-neuronal antibodies which have been linked to Pediatric Acute-onset Neuropsychiatric Syndrome (PANS). Treatment options were discussed with the family and it was decided to use a course of plasmapheresis based on previous studies demonstrating efficacy and its safety profile. After course of therapy, there was a dramatic resolution of her psychosis, OCD traits, and anxiety. She was able to stop all of her antipsychotic and anxiety medications and resume many of her previous normal daily activities. The effect of this treatment has been sustained to the present time. This case emphasizes the importance of exploring nontraditional treatments for severe, treatment-resistant mental illness which requires a multidisciplinary approach. Further research is warranted in larger populations to investigate pathomechanisms and treatment of PANs/PANDAs.
Acalculous cholecystitis in a patient with hepatocellular carcinoma on sorafenib
Authors: Mariko Sanda, Hideyuki Tamai, Hisanobu Deguchi, Yoshiyuki Mori, Kosaku Moribata, Naoki Shingaki, Kazuki Ueda, Izumi Inoue, Takao Maekita, Mikitaka Iguchi, Kimihiko Yanaoka, Masashi Oka, Masao Ichinose
Journal: ISRN Gastroenterol (2011)
MeSH terms: Case Reports

A 67-year-old woman with compensated cirrhosis type B associated with hepatocellular carcinoma was started on sorafenib for multiple pulmonary metastases. The patient developed right upper quadrant pain and high fever 4 weeks later. Imaging revealed marked enlargement of the gallbladder without calculi. Following percutaneous transhepatic gallbladder aspiration, her symptoms resolved, but the gallbladder remained enlarged. Laparoscopic cholecystectomy was performed. Arteriolar occlusion with intimal thickening in the muscular layer of the gallbladder was seen sporadically. The fact that this patient had no risk factors for acalculous cholecystitis suggested that the cholecystitis resulted from ischemia, implying a strong causal relationship with sorafenib.
An ovarian pregnancy in a patient with a history of bilateral salpingectomies: a rare case
Authors: Sadia Khandaker, Pranav Chitkara, Eric Cochran, Jed Cutler
Journal: Case Rep Obstet Gynecol (2015)

Background. 1 in 200 ectopic pregnancies are true ovarian pregnancies that fulfill the Spiegelberg criteria. Despite being rare, multiple case reports and series have been reported. Few cases have been published in which the event was preceded by salpingectomy. Case. The patient is a 32-year-old female who presented to the emergency room with abdominal pain. She was found to be pregnant, despite a history of two previous ectopic pregnancies treated with salpingectomies. Sonography confirmed a left adnexal mass and free fluid. Surgery revealed a ruptured ovarian pregnancy which was also confirmed by pathology. Conclusion. This is a case of an ovarian pregnancy in a patient with two previous salpingectomies. It underscores the importance of searching for an ectopic pregnancy in patients with abdominal pain after fertility impairing surgery.
Solitary Lytic Bone Metastasis: A Rare Presentation of Small Lymphocytic Leukemia
Authors: Heather Katz, Steven Sagun, Doreen Griswold, Mohamed Alsharedi
Journal: Case Rep Hematol (2018)
MeSH terms: Case Reports

Chronic lymphocytic leukemia (CLL)/small lymphocytic lymphoma (SLL) is a hematologic malignancy characterized by an over accumulation of incompetent neoplastic lymphocytes. Bone metastasis in CLL/SLL is very rare. We report a case of a 76-year-old Caucasian female presented with an unresolving pulmonary infiltrate with mediastinal lymphadenopathy concerning for malignancy. Positron emission tomography (PET)/computed tomography (CT) showed an infiltrative mass in the mediastinum with diffuse uptake and a hypermetabolic mass within the left iliac bone. Transbronchial biopsy revealed morphology and features of SLL. However, with concern for another primary cancer, a CT-guided biopsy of the PET avid left iliac bone was performed and revealed bone and marrow with involvement of CLL/SLL similar to the chest lymphadenopathy. To our knowledge and after extensive review of medical literature, this is first reported case of SLL with solitary bone metastasis to the hip.