OpenMed/multicare-articles huggingface dataset:
Oculocerebrocutaneous Syndrome (Delleman Syndrome): A Case with a Novel Presentation of Orbital Involvement
Authors: Mahbobeh Bahmani, Razieh Naseri, Alireza Iraniparast, Raya Mokhtari, Seyed Hamed Jafari
Journal: Case Rep Pediatr (2021)
MeSH terms: Case Reports

Oculocerebrocutaneous syndrome (OCCS), also known as Delleman syndrome (DS), is a rare congenital anomaly featuring focal skin defects, orbital anomalies, and central nervous system malformations. Diagnosis of Delleman syndrome is based on the triad of eye, central nervous system (CNS), and cutaneous defects and confirmed by magnetic resonance imaging. A 23-day-old girl was referred to our department for brain imaging. The infant had multiple cutaneous appendages on the right side of her face. There also was a fleshy mass measuring about 12 mm over her right eye. Brain MRI demonstrated the evidence of colpocephaly, agenesis of the corpus callosum, nodular subependymal heterotopias adjacent to the right lateral ventricle, aplasia of the cerebellar vermis, hypoplasia of the right cerebellar hemisphere, and widening of CSF space in the posterior fossa. There was also an exophytic skin lesion on her right cheek, measuring about 13 × 12 mm in size. In the orbital MRI, there was a mixed cystic solid mass measuring about 25 × 20 mm in her right orbital cavity. The orbital content was abnormal and suggestive of rudimentary orbit. Considering the findings, diagnosis of oculocerebrocutaneous syndrome (Delleman syndrome) was established for the patient. Because of the variations in orbital and CNS manifestations, all patients with clinical suspicion of DS should be assessed by brain and orbital MRI and managed by a pediatric neurologist and ophthalmologist.
Successful treatment of idiopathic mast cell activation syndrome with low-dose Omalizumab
Authors: Renee Berry, Peter Hollingsworth, Michaela Lucas
Journal: Clin Transl Immunology (2019)
Keywords: bee venom immunotherapy, idiopathic non‐clonal mast cell disorder, mast cell activation syndrome, omalizumab
MeSH terms: Case Reports

Objectives:
Idiopathic mast cell disorders, a recently defined and recognised syndrome in clinical practice, are similar to the previously termed non-clonal mast cell disorder. Patients with idiopathic mast cell activation syndrome (MCAS) suffer all the classical signs of mast cell activation but do not have evidence of mast cell clonality. Furthermore, treatment of these patients can be limited and burdensome in those with refractory symptoms.
Methods:
Here, we describe treatment of a patient with idiopathic MCAS utilising a single monthly subcutaneous injection of omalizumab and review the current classification and therapeutic options for clonal and non-clonal MCAS.
Results:
Low-dose omalizumab treatment has successfully led to a 5-year, sustained clinical response, controlled debilitating symptoms of mast cell activation and allowed for reintroduction and long-term maintenance of bee venom subcutaneous immunotherapy.
Conclusion:
Low-dose omalizumab of 150 mg monthly should be considered for maintenance management of patients with idiopathic MCAS for its cost and quality-of-life benefits.
Therapeutic Response of Soft Tissue Sarcoma With Novel SS18-POU5F1 Fusion: A Case Report
Authors: Zengjun Liu, Hongtu Yuan, Mingyong Han
Journal: Front Oncol (2021)
Keywords: pou5f1, ss18, fusion, soft tissue sarcoma, therapeutic response
MeSH terms: Case Reports

A novel SS18-POU5F1 fusion gene was recently reported in soft tissue sarcoma occurring in three adolescent and young adult patients. Herein, we firstly reported the treatment response of SS18-POU5F1 sarcoma to immune checkpoint inhibitor, angiogenesis inhibitor, chemotherapy and radiotherapy. Our patient demonstrated no response to various systemic therapies including immune checkpoint inhibitor, angiogenesis inhibitor and chemotherapy. However, we noted that the SS18-POU5F1 sarcoma had a quick, robust but transient clinical response to radiotherapy. Further studies are needed to elucidate the mechanism underlying the different tumor response to radiotherapy and systemic therapy in this kind of tumor.
Case report: Successful treatment with the combined therapy of interferon-alpha 2b and anlotinib in a patient with advanced hepatic epithelioid hemangioendothelioma
Authors: Xiaolei Liu, Ruiquan Zhou, Shuang Si, Liguo Liu, Shiwei Yang, Dongdong Han, Haidong Tan
Journal: Front Med (Lausanne) (2022)
Keywords: anlotinib, case report, epithelioid hemangioendothelioma, interferon, liver
MeSH terms: Case Reports

Hepatic epithelioid hemangioendothelioma (HEH) is a very rare tumor originating from vascular endothelial cells, with unpredictable malignancy. At present, there is no standard treatment protocol yet established. Both surgical resection and liver transplantation have been reported to be effective treatments for HEH; however, multiple intrahepatic lesions or extrahepatic metastasis make these procedures unsuitable to most patients. Systematic therapy has also been investigated, but the results are undetermined due to the limited cases. Interferon-alpha 2b (IFN-a 2b) has also been used for the treatment of HEH. Based on our previous study, the rate of tumor regression with IFN-a 2b monotherapy was more than 50%. Here, we reported a patient with advanced HEH, who achieved a partial response with the combined therapy of anlotinib and IFN-a 2b. The tumor stayed stable for 2 years with anlotinib monotherapy and regressed 3 months after the combined therapy of anlotinib and IFN-a 2b. The synergistic effect of combined therapy with anlotinib and IFN-a 2b provided promising guidance for future clinical study.
Case Report: Long-term remission of malignant pleural and peritoneal effusion in a case of advanced lung adenocarcinoma treated with combined crizotinib and anlotinib therapy
Authors: Jin Tian, Lin Long, Jianhua Zang, Peng Liu, Lili Zhao, Hongtao Zhang, Jun Xiao
Journal: Front Oncol (2023)
Keywords: anlotinib, crizotinib, malignant peritoneal effusion, malignant pleural effusion, non-small cell lung cancer
MeSH terms: Case Reports

Malignant pleural and peritoneal effusion are common clinical manifestations in advanced malignant tumors, associated with a poor prognosis. This article presents a case of advanced lung adenocarcinoma with ROS1 rearrangement, characterized by persistent malignant pleural and peritoneal effusion. The patient received combined therapy of Crizotinib and Anlotinib, resulting in a significant reduction and even disappearance of the malignant effusion. Exploratory use of this treatment approach improved the patient's quality of life and holds potential for extending overall survival. However, given the single case report nature, the efficacy of this regimen in treating advanced ROS1-rearranged lung adenocarcinoma should be considered as a supplementary strategy, warranting further validation through multicenter clinical data.
Melanotic neuroectodermal tumor of infancy: a rare presentation of an extremely rare neoplasm and diagnostic implications in Gombe, Nigeria
Authors: Babatunde Oludare Fakuade, Joshua Biodun Adeoye
Journal: Pan Afr Med J (2017)
Keywords: melanotic neuro-ectodermal tumor of infancy, benign tumor, bony-hard swelling, diagnostic challenges, firm swelling, infant, management challenges, maxillary tumor, vanyl mandellic acid, wide excision
MeSH terms: Maxillary Neoplasms / diagnosis, Neuroectodermal Tumor, Melanotic / diagnosis, Case Reports, Humans, Infant, Male, Maxillary Neoplasms / pathology, Neuroectodermal Tumor, Melanotic / pathology, Nigeria

Melanotic neuro-ectodermal tumor of infancy is very rare. A unique neoplasm of the formative years, it typically involves the face or cranium; possesses rapid, expansile growth; presents as a firm swelling and displays a high rate of recurrence. Its rarity and unique features make diagnosis and management quite challenging. This challenge is increased in resource-limited settings like ours and with atypical presentation, such as was seen at our center, where patient presented with a bony hard swelling.
Case report: Managing multisystem inflammatory syndrome in children (MIS-C) in Lao People's Democratic Republic, a success story
Authors: Vannida Douangboupha, Kouyang Nhiacha, Bounloth Sodaluck, Daosavanh Thepmixay, Kristina M Krohn
Journal: Front Pediatr (2023)
Keywords: mis-c multisystem inflammatory syndrome in children, children, hospitalized, low resource areas, covid-19, sars-cov-2, low- and lower-middle-income countries
MeSH terms: Case Reports

Introduction:
Multisystem inflammatory syndrome in children (MIS-C) is believed to be one of the most important life-threatening complications of COVID-19 infection among children. In any setting, early recognition, investigations, and management of MIS-C is crucial, but it is particularly difficult in resource-limited settings (RLS). This is the first case report of MIS-C in Lao People's Democratic Republic (Lao PDR) that was promptly recognized, treated, and resulted in full recovery with no known complications despite the resource limitations.
Case presentation:
A healthy 9-year-old boy presented to a central teaching hospital fulfilling the World Health's Organization's MIS-C criteria. The patient had never received a COVID-19 vaccine and had a history of COVID-19 contact. The diagnosis was based upon the history, changes in the patient's clinical status, and response to treatment and negative testing and response to treatment for alternative diagnoses. Despite management challenges relating to limited access to an intensive care bed and the high cost of IVIG; the patient received a full course of treatment and appropriate follow-up cares post discharge. There were several aspects to this case that may not hold true for other children in Lao PDR. First, the family lived in the capital city, close to the central hospitals. Second, the family was able to afford repeated visits to private clinics, and the cost of IVIG, and other treatments. Third, the physicians involved in his care promptly recognized a new diagnosis.
Conclusions:
MIS-C is a rare but life-threatening complication of COVID-19 infection among children. The management of MIS-C requires early recognition, investigations, and interventions which may be difficult to access, cost-prohibitive, and further increase demand on healthcare services that are already limited in RLS. Nevertheless, clinicians must consider means for improving access, determine which tests and interventions are worth the cost, and establishing local clinical guidelines for working within resource constraints while awaiting additional assistance from local and international public health systems. Additionally, using COVID-19 vaccination to prevent MIS-C and its complication for children may be cost-effective.
Postoperative diaphragmatic hernia following endoscopic thoracic sympathectomy for primary palmar hyperhidrosis: A case report
Authors: Ling Wang, Xike Wu, Yuepu Tang, Zheyuan Fan
Journal: Front Surg (2023)
Keywords: case report, diaphragmatic hernia, primary palmar hyperhidrosis, sympathectomy, video-assisted thoracoscopic sympathectomy
MeSH terms: Case Reports

Postoperative diaphragmatic hernia (DH) following endoscopic thoracic sympathectomy for primary palmar hyperhidrosis is extremely rare. We present a 21-year-old female patient who developed a left DH with herniation of the stomach and gastric perforation on the first postoperative day after undergoing bilateral video-assisted thoracoscopic sympathectomy R4 ablation. She complained of severe dyspnea and chest pain, and an emergency chest x-ray and computed tomography revealed left pleural effusion, collapsed lung, and left DH, which allowed the stomach to herniate into the chest. Emergency thoracoscopic surgery was performed. We repaired the diaphragmatic defect intraoperatively and replaced the stomach with the peritoneal cavity from the thoracic field. The patient was discharged without complications. She did not present with recurrent symptoms at the 3-month follow-up. Postoperative DH should be considered when patients complain of gastrointestinal or respiratory symptoms after sympathectomy, although it is very rare.
Unsuspected radiolucent partial denture impaction in the sigmoid colon mimicking malignancy
Authors: Makabongwe Tshuma, Vamsi Velchuru, Geoffrey Andrew Waters
Journal: BJR Case Rep (2016)
MeSH terms: Case Reports

We report the case of a 79-year-old male who presented with altered bowel habit. Subsequent endoscopy and radiological investigations suggested the diagnosis of a likely sigmoid colon malignancy. Surgery was performed to remove the suspected tumour and post-surgical histology showed only inflammatory change in an area of underlying sigmoid diverticulosis with an associated impacted dental prosthesis.
Trichotillomania in a dementia case
Authors: Leonardo Caixeta, Danielly Bandeira Lopes
Journal: Dement Neuropsychol (2011)
Keywords: binswanger’s disease, trichotillomania, dementia, impulse-control disorder, perseveration
MeSH terms: Case Reports

We report an 87-year-old male case of hair pulling associated with a white-matter vascular dementia (Binswanger's disease). Trichotillomania in our case did not resolve using mirtazapine or anticholinesterasic medication. Trichotillomania seems to be related to a form of perseveration associated with dementia. The findings in this case suggest the abnormality involving white matter in the pathogenesis of trichotillomania, may constitute a defect in connectivity in the right frontal-subcortical circuit.
The management of esophago-gastric necrosis due to caustics ingestion: Anastomotic reinforcement with Cyanoacrylate glue and damage control with Vacuum Assisted Closure Therapy-A case report
Authors: A Picciariello, V Papagni, G Martines, N Palasciano, D F Altomare
Journal: Int J Surg Case Rep (2019)
Keywords: cyanoacrylate glue, damage control, esophago-jejunum anastomosis, gastric necrosis, vacuum assisted closure

Introduction:
The surgical treatment of a complete gastric necrosis due to caustic ingestion is extremely challenging and life threatening. In this emergency scenario, a first-time reconstruction of the gastrointestinal tract is often dangerous for the patient because of the high risk of infections and anastomosis leakage. Literature lacks of clear indications for the management of this condition.
Presentation of case:
Male patient with history of major depression disorder was admitted to our Emergency Unit after the ingestion of muriatic acid. CT scan showed massive pneumo-peritoneum with esophago-gastric thickening. Free fluids in the abdominal cavity were detected. Intraoperative finding was a complete necrosis of the stomach and corrosion of the lower esophagus.
Discussion:
In this case report we proposed a first approach with the drainage and lavage of the abdomen cavity. Then, an esophago-jejunum anastomosis reinforced by Cyanoacrylate glue was performed and a damage control with VAC therapy (Vacuum Assisted Closure) was carried out.
Conclusion:
Cyanoacrylate glue could be considered useful and efficient in the reinforcement of anastomosis even in emergency surgical procedures. Damage control using VAC allows to keep a good control of the surgery performed.
Lateral Proboscis (Elephant Tusk) with Orofacial Clefts: A Report of a Rare Case
Authors: Sunday O Ajike, Rabiu Mohammed, Adegbenga O Johnson, Kato Chaha, Modupe O Samaila
Journal: Case Rep Pediatr (2018)
MeSH terms: Case Reports

Lateral proboscis is a rare congenital anomaly. Lateral proboscis is a rare craniofacial malformation characterized by a rudimentary tubular, nose-like structure occurring in association with a wide spectrum of other anomalies. We presented a seven-month-old girl's lateral proboscis, cleft lip, and palate. Proboscis was excised by an elliptical incision, and the cleft was repaired at the same surgery.
Case Report: Interdisciplinary management of a complex odontoma with a periapical involvement of superior anterior teeth
Authors: Esteban Isaí Flores Orozco, Amjad Abu Hasna, Moacir Teotonio de Santos Junior, Elan Ignacio Flores Orozco, Renata Falchete Do Prado, Gabriel Rocha Campos, Marcia Carneiro Valera
Journal: F1000Res (2019)
Keywords: bioceramics, complex odontoma, computed tomography, five mineral oxides
MeSH terms: Odontoma, Periapical Periodontitis, Case Reports, Adult, Female, Humans, Oxides, Root Canal Therapy, Oxides

This case report aims to describe the management of a complex odontoma with endodontic involvement of surrounding teeth utilizing a new bioceramic cement consisting of five mineral oxides (5MO) as a retro-filling material. The patient presented for routine consultation with slight dental mobility in the antero-superior region. Upon clinical and computed tomography examination, bone rarefaction was observed in the apical region of teeth 11 and 12, external root resorption in the involved teeth and necrotic pulp of tooth 12. Root canal treatment was performed in teeth 11 and 12. Later, local surgical excision of the lesion was carried out, finding a mass with clinical features of complex odontoma, with histopathological examination of the mass confirming this diagnosis. Retro-filling of tooth 12 with 5MO was carried out. No signs and symptoms were observed over twelve-months of follow-up, with bone neoformation observed in the region. Therefore, 5MO appears to be an effective bioceramic cement that has reparative features.
Tuberculous peritonitis in a case receiving continuous ambulatory peritoneal dialysis(CAPD) treatment
Authors: Garip Sahin, Nuri Kiraz, Ilknur Sahin, Mehmet Soydan, Yurdanur Akgün
Journal: Ann Clin Microbiol Antimicrob (2004)

Background:
Tuberculosis continues to be an important health problem in the world. Besides pulmonary involvement extrapulmonary involvement becomes an affair in developing countries, even in developed countries.
Case presentation:
A thirty-six year old male patient was admitted with abdominal pain, diarrhea, nausea, vomiting and fever which had started one week before. The patient had been followed up with predialisis Chronic Renal Failure(CRF) diagnosis for 4 years and receiving continuous ambulatory peritoneal dialysis (CAPD) treatment for 4 months. In peritoneal fluid, 1600/mm3 cells were detected and 70% of them were polymorphonuclear leukocytosis. The patient begun nonspesific antibiotherapy but no benefit was obtained after 12 days and peritoneal fluid bacterial cultures remained negative. Peritoneal smear was positive for Asid-fast basilli (AFB), and antituberculosis therapy was started with isoniazid, rifampicine, ethambutol and pyrazinamide. After 15 days his peritoneal fluid cell count was decreased and his symptoms were relieved. Peritoneal fluid tuberculosis culture was found positive.
Conclusion:
Considering this case, we think that in patients with CAPD catheter and peritonitis; when peritoneal fluid leukocytes are high and PMNL are dominant, AFB and tuberculosis culture must be investigated besides bacterial culture routinely.
Appendicitis and COVID: cause or effect?
Authors: Abdus Salam Raju, Aditya Thomas Benjamin, Tristan Rutland, Luke Liu, Paul Lambrakis
Journal: Bull Natl Res Cent (2022)
Keywords: appendicitis, covid-19 infection, veno-occlusive disease, veno-occlusive vasculitis
MeSH terms: Case Reports

Background:
Vasculitis and phlebitis with vascular occlusion within appendix specimen is rare. Several authors have reported COVID-19 related veno-occlusive disease in hepatic pathology, but lymphoid aggregation with phlebitis is unusual in appendix specimen. We present a case with medium size venule phlebitis in an appendix of a patient recovered from COVID-19 infection.
Case presentation:
A 27-year-old who recently recovered from COVID-19 infection 12 weeks prior, presented with acute appendicitis, confirmed on computed tomography and operative findings. He underwent an uneventful laparoscopic appendicectomy. Histopathology showed veno-occlusive vasculitis within the appendix specimen.
Conclusions:
Veno-occlusive disease within the appendix is uncommon. Emerging data suggest COVID-19 infection can cause systemic vascular complications. We herein report a case of healthy patient with no past medical history with an unusual findings of medium vessels phlebitis within the appendix post COVID-19 infection.
Corrected scoliosis, cholinesterase deficiency, and cesarean section: a case report
Authors: Roy Somers, Yves Jacquemyn, Luc Sermeus, Marcel Vercauteren
Journal: Case Rep Med (2009)
MeSH terms: Case Reports

We describe a patient with severe scoliosis for which corrective surgery was performed at the age of 12. During a previous caesarean section under general anaesthesia pseudocholinesterase deficiency was discovered. Ultrasound guided spinal anaesthesia was performed enabling a second caesarean section under loco-regional anaesthesia.
Unusual Variant of Coronal Bladder Duplication Associated with Glans Diphallia: A Case Report and Review of the Literature
Authors: Reza Khorramirouz, Amin Bagheri, Abdol-Mohammad Kajbafzadeh
Journal: Case Rep Urol (2015)

Bladder duplication is a rare congenital anomaly which occurs in the sagittal or coronal plane and it can be associated with other anomalies. It has been previously classified as complete duplication of the bladder and urethra or incomplete duplication with two bladders and common urethra. However, complete duplication of bladder with a single urethra has been rarely reported. Herein, we present a patient with a different variation of bladder duplication in the coronal plane with two urethras originating from the main bladder and associated glans diphallia.
Thoracic Endovascular Aortic Repair of Esophageal Cancer-Associated Aortoesophageal Fistula: A Case Report and Literature Review
Authors: Akiko Sasaki, Hideto Egashira, Shinnosuke Tokoro, Chikamasa Ichita, Satoshi Takizawa, Toshitaka Tsukiyama, Hidemitsu Ogino, Jun Kawachi, Rai Shimoyama, Makoto Kako
Journal: Case Rep Oncol Med (2018)
MeSH terms: Case Reports

Background:
Thoracic endovascular aortic repair of an aortoesophageal fistula is an effective emergency treatment for patients with T4-esophageal cancer, as it prevents sudden death, and is a bridge to surgery. However, the course of unresectable malignant aortoesophageal fistula treated with thoracic endovascular aortic repair alone is not well-known.
Case presentation:
We report a 67-year-old Japanese man with T4-esophageal cancer who experienced a chemoradiation-induced aortoesophageal fistula and was rescued with thoracic endovascular aortic repair. He recovered after the procedure and survived for 4 additional months with management of a mycotic aneurysm and secondary aortoesophageal fistula with the exposure of the stent graft into the esophagus. Thoracic endovascular aortic repair of aortoesophageal fistula with T4-esophageal cancer extended life for nearly an average of 4 months in the reported cases. As a postoperative complication, the exposure of the stent graft into the esophagus is rare but life-threatening; the esophageal stent insertion was effective.
Conclusions:
With postoperative management advances, thoracic endovascular aortic repair can improve survival and increase the quality of life of patients with T4-esophageal cancer.
Primary fourth ventricular B-cell lymphoma in an immunocompetent patient
Authors: Andrew J Fabiano, Susanna Syriac, Robert A Fenstermaker, Jingxin Qiu
Journal: Clin Neuropathol (2014)
MeSH terms: Cerebral Ventricle Neoplasms / diagnosis, Fourth Ventricle, Lymphoma, B-Cell / diagnosis, Case Reports, Letter, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't, Cerebral Ventricle Neoplasms / etiology, Cerebral Ventricle Neoplasms / therapy, Female, Humans, Lymphoma, B-Cell / etiology, Lymphoma, B-Cell / therapy, Middle Aged

Letter to the Editor.