OpenMed/multicare-articles huggingface dataset:
Beyond Infantile Hemangiomas: A Glimpse into Overlapping Rare Syndromes Emphasizing the Vigilant Screening for PHACE and LUMBAR Syndromes
Authors: Luis R Berríos, Bianca C Rodríguez, Mariana B Sadurní, Karla J Martinez, Carla M Santiago, Natasha K González
Journal: Case Rep Pediatr (2024)
MeSH terms: Case Reports

Infantile hemangiomas are the most common birthmark in newborns. They are clinically diagnosed and usually self-limited. However, there are several exceptions with aggressive types of hemangiomas that can be associated with extracutaneous anomalies, such as PHACE syndrome (posterior fossa anomalies, upper body hemangiomas, arterial anomalies, cardiac anomalies, and eye anomalies) and LUMBAR syndrome (lower body hemangiomas, ulcerations/urogenital anomalies, myelopathies, bony deformities, anorectal malformations/arterial anomalies, and renal anomalies). These two syndromes, described in the literature with distinct features, have rarely been reported in the same patient. We discuss one of the few cases reported with overlapping features of the PHACE and LUMBAR syndromes that initially presented with infantile hemangiomas, as well as other nonspecific skin and systemic findings. Minimal guidance has been described due to the need for more scientific literature. Our aim is to reinforce awareness of these two syndromes and the possibility of an overlap presentation between them. Furthermore, we emphasize the need for an interdisciplinary approach with screening for all known associations to avoid missing essential components of these syndromes that can lead to significant morbidity and lifetime complications.
Case report: Response to Savolitinib/EGFR-TKI combination in NSCLC patients harboring concurrent primary MET amplification/overexpression and EGFR mutation
Authors: Xiaolin Ren, Kejie Li, Yang Zhang, Changlin Zou, Meng Su
Journal: Front Oncol (2024)
Keywords: egfr mutation, egfr-tki, met overexpression, savolitinib, non-small cell lung cancer (nsclc), primary met amplification
MeSH terms: Case Reports

Lung cancer is the leading cause of cancer death, accounting for one-third of all cancer deaths worldwide. The MET (c-MET) gene, as one of the therapeutic target spots of NSCLC, has become increasingly more important. MET amplification/overexpression was divided into primary (intrinsic) and secondary (acquired). Studies indicated that the combination of Osimertinib and Savolitinib was safe and showed promising antitumor effect in NSCLC patients with secondary MET amplification after EGFR mutations. However, NSCLC patients with primary MET amplification/overexpression and EGFR mutations are rare in clinics, and the efficacy of dual-target therapy combined with EGFR-TKI and Savolitinib for them has not been studied yet. Here, we reported two NSCLC patients with primary MET amplification/overexpression and EGFR mutation, who benefited from T+S therapy (the dual-target therapy of EGFR-TKI plus Savolitinib) and achieved a progression-free survival (PFS) of approximately 5 months. The two cases indicated that T+S therapy has an acceptable safety profile and encouraging antitumor efficacy in NSCLC patients harboring concurrent primary MET amplification/overexpression and EGFR mutation. Meanwhile, the observation stresses the importance of genetic testing, and the MET gene needs to be detected at first diagnosis for the best choice of targeted therapies.
When Imagination Feels Like Reality: A Case Study of False Memories and Maladaptive Daydreaming in Visual Impairment
Authors: Eli Somer
Journal: Case Rep Psychiatry (2024)
MeSH terms: Case Reports

Background:
When a person experiences maladaptive daydreaming (MD), they spend a prolonged period daydreaming with a strong sense of presence. The symptoms of MD are often excessive, interfere with functioning, and are linked to distress and comorbid mental disorders. In this paper, apparent false memory is described in the context of a woman with MD and visual impairment due to a progressive eye condition. Her vivid daydreams seemed indistinguishable from actual memories. Case Report. A 35-year-old woman with a lifelong MD reported three incidents of fabricating detailed false memories of events that her family confirmed never occurred: obtaining a new job, miscarrying twins, and hospitalization for COVID-19. She experienced anxiety and shame when the stories were disproven. The assessment confirmed MD, PTSD, OCD, and other disorders. Her verbal memory was below average, especially for longer narratives. Her misattributions of daydreams as real-life memories may relate to reliance on vivid mental images over deteriorating vision and source monitoring deficits.
Conclusion:
This first reported case of confabulations in an individual with MD and visual disability suggests daydreams could potentially be mistaken for actual events in some MD cases. While sensitive, more research is needed on the prevalence of false memories among individuals with MD. The default mode network, prefrontal cortex, and their connectivity may be implicated in generating vivid daydreams and misattributing them to actual episodic events. Understanding the relationship between sensory impairments, dissociation, and susceptibility to memory distortions could inform interventions to improve reality testing for some MD patients.
Endoscopic-Assisted Curettage of Posterior Proximal Tibia Chondroblastoma: A Case Report and Review of Literature
Authors: Hawra M Albaqali, Emad Alabsi, Mohammad S Alfehaid, Rasees F Alotaibi, Amani Joudeh
Journal: Cureus (2024)
Keywords: chondroblastoma, endoscopic, pediatric, tibia, tumor
MeSH terms: Case Reports

Chondroblastoma is a benign cartilage-producing bone lesion that characteristically occurs in the epiphyseal region of long bones. The most typical locations are the proximal humerus, proximal femur, distal femur, and proximal tibia. There is no medical treatment for the disease; classically, it must be treated by intralesional curettage and bone grafting. A 15-year-old female patient presented with chronic knee pain with no antecedent history of trauma. Clinical examination showed deep tenderness on maximum flexion and 15 degrees extension lag with full knee flexion. Plain radiographs and knee MRI showed a lesion in the posterior part of the proximal tibia on the midline, highly suggestive of chondroblastoma. CAT-guided biopsy did not show any evidence of malignancy. Intralesional curettage assisted by endoscopic visualization was done using a small incision, and a bone graft substitute reconstructed the defect. Endoscopic-assisted curettage of benign bone lesions can be considered in challenging locations with good results.
Case report: Immunotherapy in rare high TMB pancreatic acinar carcinoma
Authors: Guifu Wu, Yuting Fang, Deying Bi, Wenwei Yang, Yongkun Sun
Journal: Front Oncol (2024)
Keywords: pacc, adverse reaction, genetic testing, high tmb, immunotherapy
MeSH terms: Case Reports

This case report details a patient with Pancreatic Acinar Cell Carcinoma (PACC), a rare malignancy with distinctive biological and imaging features. In the absence of standardized treatment protocols for PACC, we embarked on a diagnostic journey that led to the adoption of an innovative therapeutic regimen in our institution. A 45-year-old female patient presented with a pancreatic mass, which was histologically confirmed as PACC following a biopsy. Subsequent genomic profiling revealed a high tumor mutational burden (21.4/Mb), prompting the initiation of combined immunotherapy and targeted therapy. Notably, the patient experienced a unique adverse reaction to the immunotherapy-recurrent subcutaneous soft tissue nodules, particularly in the gluteal and lower limb regions, accompanied by pain, yet resolving spontaneously. Following six cycles of the dual therapy, radiological evaluations indicated a decrease in tumor size, leading to a successful surgical excision. Over a 20-month post-surgical follow-up, the patient showed no signs of disease recurrence. This narrative adds to the existing knowledge on PACC and highlights the potential efficacy of immunotherapy in managing this challenging condition, emphasizing the importance of close monitoring for any adverse reactions.
Case Report: Myocardial dissection caused by ruptured sinus of Valsalva aneurysm in association with a bicuspid aortic valve
Authors: Xinyan Zhou, Yan Xu, Qian He, Na Tan, Jixiang Chu, Bin Liu, Yu Zhu, Chengde Liao, Yu Jiang
Journal: Front Cardiovasc Med (2023)
Keywords: bicuspid aortic valve, computed tomography, echocardiogram, myocardial dissection, sinus of valsalva aneurysm
MeSH terms: Case Reports

In this report, we present a case of left-right sinus fusion in a Ruptured sinus of Valsalva aneurysm (RSVA) that perforated into the myocardium, giving rise to myocardial dissection. The existence of an anomalous bicuspid aortic valve (BAV) is contemplated as a potential etiological element in this context. Employing multimodal imaging modalities, encompassing transthoracic echocardiography and computed tomography (CT), facilitated the visualization of a dissecting hematoma situated within the myocardium subsequent to the RSVA. Following this, our patient underwent an Cabrol surgical intervention, received patch repair, and underwent mitral valve annuloplasty, during which a three-year period transpired without the occurrence of any deleterious cardiac events. In summary, this report establishes the cornerstone for the surgical intervention of RSVA, shedding light on the efficacious handling of RSVA-associated myocardial dissection. It posits that the presence of a BAV may serve as a predisposing factor to RSVA rupture, potentially elevating the susceptibility to myocardial dissection. The utilization of diverse multimodal imaging methodologies played an indispensable role in the detection of a hematoma within the myocardial tissue subsequent to the RSVA rupture. The uneventful three-year postoperative follow-up of the patient underscores the efficacy of the undertaken interventions.
Case Report: Angiomatoid fibrous histiocytoma in the hand: a rare clinical presentation and diagnostic challenge
Authors: Jiro Ichikawa, Tomonori Kawasaki, Hiroki Imada, Masanori Wako, Taro Fujimaki, Rikito Tatsuno, Takahiro Jubashi, Hirotaka Haro
Journal: Front Oncol (2023)
Keywords: angiomatoid fibrous histiocytoma, clinical presentation, differential diagnosis, histopathology, magnetic resonance imaging
MeSH terms: Case Reports

Angiomatoid fibrous histiocytoma (AFH) is a rare tumor of mesenchymal origin occurring in young adults. Based on its clinical course, it is said to have an intermediate potential. We present a case of a 59-year-old woman with AFH in the hand that was difficult to diagnose. A benign soft tissue tumor was suspected on magnetic resonance imaging, and its size and open biopsy suggested nodular fasciitis or inflammatory myofibroblastic tumor. A diagnosis of AFH was eventually made based on the analysis of the resected specimens. The characteristic findings of histopathology and immunohistochemistry in this case were relatively poor, so fluorescence in situ hybridization contributed to making the correct diagnosis. Considering its prognosis, careful follow-up was decided upon without additional surgery. Our case is a challenging one because of its atypical presentation and inconclusive imaging and histopathological findings.
Symptomatic Gastric Diverticulum in the Antrum: A Case Report
Authors: Mohammad N Kloub, Raed Atiyat, Muhammad Hussain, Byron Okwesili, Theodore A DaCosta Jr
Journal: Cureus (2024)
Keywords: antral diverticulum, antrum, diverticulosis, gastric diverticulum, stomach
MeSH terms: Case Reports

Gastric diverticulum is an out-pouching that occurs in the gastric wall and, often, when found, is incidental and asymptomatic. While they do not occur commonly, gastric diverticula are located most commonly in the posterior wall of the fundus of the stomach, and their presence in the antrum, as appreciated in the case described below, is quite rare. We present a 65-year-old female who was found to have an antral gastric diverticulum on esophagogastroduodenoscopy (EGD). There have been a few reported cases in the literature of gastric diverticulum that occurred in the antrum. This case report will shed light on this rare pathology, focusing on the occurrence in the antrum.
A Case Report of Roundworms Causing Intestinal Obstruction in a Child
Authors: Tushar Krishnaraju, Suvendu Sekhar Jena, Amitabh Yadav, Samiran Nundy
Journal: Case Rep Surg (2024)
MeSH terms: Case Reports

Background. Soil-transmitted helminth (STH) infections are a common global health issue that affects underprivileged communities without adequate access to clean drinking water, sanitation, and hygiene. Ascaris lumbricoides is the main species that infects humans. Among varied presentations, intestinal obstruction is common among children. Early detection of intestinal obstruction due to STH is critical to prevent severe complications. Here, we present the case of a 10-year-old child with acute intestinal obstruction due to roundworms. Case Report. A 10-year-old boy presented to the emergency department with recurrent abdominal pain, distention, and vomiting for three months with signs of peritonitis on examination. CT scan of the abdomen revealed roundworms in the distal ileum and a cocoon formed by adhesions of small bowel loops. Intraoperatively, worm balls were found in the proximal jejunum and ileum, causing small bowel obstruction, and a diseased segment of ileum had to be resected. The worms were removed, and an ileostomy was created. The patient was treated with albendazole and intravenous antibiotics such as ceftriaxone and metronidazole. An early closure of ileostomy was performed after 20 days. Histopathology showed roundworm eggs in the appendix and small bowel mucosa. Discussion. Ascaris lumbricoides infestation is a common cause of intestinal obstruction in children, and early detection is critical for avoiding severe complications. Prompt and appropriate treatment with antihelminthics and antibiotics is necessary to achieve a good outcome. In rare cases, surgical intervention may be required to treat intestinal obstruction caused by STH infections. In conclusion, the prevalence of STH infections highlights the need for public health interventions, such as improving access to clean water, sanitation, and hygiene, and for early detection and treatment to prevent severe complications such as intestinal obstruction.
Retroperitoneal neuroglial heterotopia: a case report and literature review
Authors: Jianhua Zhong, Lijun Yang, Jinhui Lin, Ruifa Wu, Wenguang Liu, Qinfang Xu, Da Ma, Zhibo Qu
Journal: Front Pediatr (2024)
Keywords: case report, cystic mass, laparoscopy, neuroglial heterotopia, retroperitoneum
MeSH terms: Case Reports

Background:
Neuroglial heterotopia is a rare lesion composed of differentiated neuroectodermal cells that manifest in extracranial locations, with the majority of cases predominantly occurring in the head and neck region. Retroperitoneal neuroglial heterotopia is exceptionally rare, with isolated cases published in the scientific literature.
Case report:
Here, we present the case of a 3-year-old girl who was admitted without clinical signs but presented with a palpable abdominal mass. Ultrasonography and computed tomography scans revealed a sizable cystic lesion within the retroperitoneal space. Subsequently, laparoscopic resection was performed. Histological examination unveiled neuroglial cell-lined cysts encompassing fibrous connective tissue, ganglia, glial tissue, and nerve bundles. Notably, distinct areas and cell types exhibited expression of S100, glial fibrillary acidic protein, and neuron-specific enolase. Follow-up assessments revealed no relapses or late complications.
Conclusion:
In cases of retroperitoneal neuroglial heterotopia, most children may remain asymptomatic without any congenital anomalies. Despite their detectability through imaging, accurate preoperative diagnosis is seldom achieved. Generally, a favorable prognosis follows complete surgical resection, although further cases are required to confirm its long-term efficacy, necessitating extended follow-up for verification.
Contrast-enhanced ultrasound findings of primary hepatic non-Hodgkin's lymphoma: a case report
Authors: Can Tang, Heqing Zhang, Mei Tian, Yulan Peng
Journal: Front Oncol (2024)
Keywords: imaging diagnosis, case report, contrast-enhanced ultrasound (ceus), non-hodgkin’s lymphoma (nhl), primary hepatic lymphoma (phl)
MeSH terms: Case Reports

Primary hepatic lymphoma (PHL) is rare, and its early diagnosis is difficult. This article presents a primary hepatic non-Hodgkin's lymphoma (NHL) case report. A 52-year-old woman was admitted to the hospital due to a fever. After undergoing laboratory examination, contrast-enhanced computed tomography (CT), ultrasound, and contrast-enhanced ultrasound (CEUS), only CEUS suggested malignancy. Then, the patient underwent a laparoscopic liver biopsy, which diagnosed NHL. Previous studies have shown that hepatic lymphoma is a hypoglycemic tumor, and the enhanced CT and magnetic resonance imaging (MRI) scans are mostly mildly intensified. At the same time, the two-dimensional and color Doppler ultrasonography are mostly atypical. CEUS has unique advantages in displaying micro-vessels, which can be helpful in the diagnosis of primary hepatic lymphoma.
Bladder cancer with urinary diversion by a sigmoid colon conduit after transverse colon stoma
Authors: Tadashi Aoki, Ryota Furuya, Masanari Fukasawa, Munehiro Nozawa, Yoshio Takihana, Makoto Sudoh, Hiroshi Nakagomi
Journal: IJU Case Rep (2023)
Keywords: chemotherapy, indocyanine green (icg), quality of life (qol), sigmoid colon conduit, transverse colon stoma
MeSH terms: Case Reports

Introduction:
Sigmoid conduit is one of the methods for achieving urinary diversion, but it is performed less frequently than ileal conduit and ureterostomy. Herein, we report a case in which a sigmoid colon conduit was performed after nephrostomy and transverse colostomy.
Case presentation:
A 70-year-old man was referred to our hospital because of a bladder tumor. Computed tomography and transurethral biopsy revealed advanced bladder cancer with ureteral and rectal invasion. Despite drug therapy, the tumor progressed. Thus, nephrostomy and transverse colostomy were performed for urinary and fecal diversion, respectively. Subsequently, chemotherapy was administered for 8 months. As nephrostomy-related complications occurred frequently during chemotherapy, a sigmoid colon conduit was performed instead of nephrostomy for urinary diversion to improve the patient's quality of life.
Conclusion:
In patients with advanced bladder cancer requiring a double stoma of the urinary and fecal tracts, sigmoid colon conduit may be selected as a urinary diversion method.
Drug-induced hypersensitivity syndrome related to piperacillin-tazobactam: a case report and review of the literature
Authors: Ya Shen, Shun-Shun Cui, Xiao-Bao Teng, Ming-Feng Han
Journal: Front Med (Lausanne) (2024)
Keywords: clinical features, drug reaction with eosinophilia and systemic symptoms, drug-induced hypersensitivity syndrome, piperacillin-tazobactam, prognosis
MeSH terms: Case Reports

Allergic reactions to drugs caused by piperacillin-tazobactam are common in clinical practice. However, we also found a few cases of drug-induced hypersensitivity syndrome (DiHS)/Drug reaction with eosinophilia and systemic symptoms (DRESS) caused by piperacillin-tazobactam in our clinical work. We report a case of a 60-year-old female patient who was treated with piperacillin-tazobactam anti-infective therapy after the diagnosis of hematogenous lung abscess, developed fever, rash, and blood abnormalities after 26 days of application, and was later diagnosed as DIHS, which was improved after the administration of glucocorticoid and anti-allergic drugs. In addition, we also retrospectively analyzed 17 cases of DiHS caused by piperacillin-tazobactam from the PubMed databases between March 1980 and September 2023. The majority of the patients had an incubation period of more than 14 days, and the common clinical features included elevated eosinophil count/percentage, fever, rash, liver damage, and lymph node enlargement. After treatment with topical or systemic glucocorticoids, 16 of the 17 patients improved and one died because of the underlying condition. The clinical features of DiHS were diverse and included a long incubation period, skin rash, elevated eosinophils, and impaired organ function. Since some patients have atypical clinical features, clinicians should raise awareness of the disease, recognize these features early, and treat them promptly.
A Successful Endovascular Treatment of Massive Hematuria Caused by Aorto-Ureteric Fistula: A Report of a Rare Case
Authors: Konstantinos G Seretis, Theofanis Papas, Vasileios Papaioannou, Nikolaos Giannakopoulos, Andreas M Lazaris
Journal: Cureus (2024)
Keywords: aorto-ureteric fistula, massive hematuria, medical microchip implant for humans, prolonged ureteral stenting, uretero-arterial fistula
MeSH terms: Case Reports

Fistula formation between the urinary tract and the arterial system is very rare, and usually involves the ureter and the adjacent iliac vessels. Communication of the ureter with the aorta has been described a few times worldwide, and most of them had a fatal outcome. In our case, a 79-year-old man had a history of total cystectomy for malignancy and diversion of both ureters to a single site in the right hypogastrium with the left one crossing over the aorta. He was admitted elsewhere several times for intermittent hematuria, and four months ago the diagnosis of communication of the left ureter with a mycotic aortic pseudoaneurysm was made. He was then referred to an interventional radiologist who sealed the communication. He was admitted to our hospital four months later in a state of hypovolemic shock and massive hematuria. In lack of information, it seemed to us that he had been treated with endovascular aneurysm repair (EVAR) for uretero-aortic communication, and was experiencing a regression because of endoleak formation. We attempted to treat him as type I endoleak with a proximal extension, and upon failure, with distal extensions, but finally we had to 'build' the entire previous graft from the inside to achieve hemodynamic stability. Our patient remained stable, without endoleak on the post-intervention computed tomography angiography (CTA). Post-operatively, we discovered that the initial operation was the formation of a bifurcated graft with multiple bare stents and coil embolization through them. This was done in an attempt to avoid material infection by the mycotic aneurysm. This is an example of a case where 'things got rough' in a lack of information on patients' medical records. Maybe the time has come to adopt the concept of implanting microchips into humans which would enable doctors to access their medical records. This will only serve as a tool for the benefit of the suffering patients, especially when we are dealing with life-threatening situations with no time to be lost.