OpenMed/multicare-articles huggingface dataset:
Sacrococcygeal teratoma in an adult female patient-case report and review of literature
Authors: Mohammad I Alsahouri, Qusai A Alsalah, Arein A Abufara, Ahmad G Hammouri, Ibrahim Alzatari, Usama Qumsieh
Journal: J Surg Case Rep (2024)
Keywords: adult, coccygectomy, sacrococcygeal, teratoma
MeSH terms: Case Reports

Sacrococcygeal teratoma (SCT) in adults is very rare with only a few cases documented in the literature, adult prevalence varies between 1 in 40 000 and 1 in 63 000. Most SCTs are located either mainly extra-pelvic (types I and II), which are more commonly seen in neonates; however, mainly intra-pelvic tumors (types III and IV) are more typical in adulthood. Extra-pelvic teratomas are extremely rare in adults. When SCT manifests in an adult, it appears as a slow-growing tumor without symptoms and usually manifests after becoming large enough to cause compression symptoms. SCT has a 1-2% probability of malignant transformation. Herein, we report a 20-year-old female, who was diagnosed with lower back swelling since childhood that increased in size over the last 2 months; imaging revealed an extra-pelvic mass. This case describes an atypical scenario for SCT, which was successfully managed with surgery. The histopathology report confirmed the diagnosis.
Case report: From negative to positive: a remarkable journey of ER, PR and HER2 status in a patient with metastatic breast cancer
Authors: Jiaqi Huang, Lan Liu, Jianghua Ding
Journal: Front Oncol (2024)
Keywords: er, her2, pr, breast cancer, negative, positive, transformation
MeSH terms: Case Reports

Breast cancer is the most common malignant tumor in women, posing a serious threat to women's health. HER2 has been identified as a key oncogene and prognostic factor in breast cancer. Recent studies have reported inconsistencies in ER, PR, and/or HER2 expression between primary breast tumors and metastatic lesions. Rarely is it reported that all three biomarkers experience conversion. In this report, we present the case of a female patient with relapsed and metastatic breast cancer, whose histology transformed from initially triple-negative to Luminal-B type (HER2 positive) (i.e., ER, PR, and HER2 positive). She underwent systematic chemotherapy, targeted therapy, and cranial radiotherapy, which was followed by maintenance treatment with targeted and endocrine therapy. Currently, she has been in nearly complete remission (nCR) for more than 12 months. For recurrent and metastatic breast cancer, it is necessary to perform the second biopsy for metastases, which would contribute to precision treatment and prognosis improvement.
Acute transverse myelitis (ATM) associated with COVID 19 infection and vaccination: A case report and literature review
Authors: Srinivas Medavarapu, Nitasha Goyal, Yaacov Anziska
Journal: AIMS Neurosci (2024)
Keywords: covid-19, transverse myelitis
MeSH terms: Case Reports

Acute transverse myelitis (ATM) is an inflammatory disorder caused by many etiologies, from postinfectious to autoimmune. Rarely, ATM cases have been reported after both COVID-19 infection and COVID-19 vaccination. We described our experience with ATM after COVID-19 infection and conducted a literature review.
Case finding methods:
We reported a case of longitudinally extensive ATM after COVID 19 infection, who also received convalescent plasma therapy, and present a comprehensive literature review of ATM cases reported after COVID-19 infection and COVID-19 vaccination. The literature search was done using PubMed and Google scholar with keywords and selected peer-reviewed articles. The search included all cases from Jan 2020 to Sept 2022.
Results:
A total of 60 ATM cases reported association with post COVID 19 infection, and 23 ATM cases reported association with post COVID 19 vaccinations. Among post COVID 19 ATM cases, the mean age was 49 years and the youngest reported was 7-month-old. A total of 55% (33) were longitudinally extensive ATM. The most common symptom was lower extremity weakness. One case was reported as necrotizing myelitis on biopsy, and another case overlapped with syndrome of GBS and longitudinal ATM. No cases reported using convalescent plasma therapy after infection. Almost all the ATM cases were treated with steroids, but some cases needed additional treatment since not all responded adequately. Six cases (10%) responded with steroids plus plasmapheresis, and 5 cases (8%) responded with steroids + IVIG, especially in the pediatric age group. One case reported a positive response after treatment with eculizumab, and another with infliximab. Two cases (3%) remained paraparetic. Among post covid-19 vaccine ATM cases, 4 cases (17%) were reported as longitudinally extensive ATM. Five cases (21%) had symptom onset within a week after vaccination. Almost all reported a response to steroids except for one case which reported fatality after the 58th day after vaccination.
Conclusion:
ATM, in the setting of acute COVID-19 infection, has been described in multiple cases and is a rare complication of COVID-19 vaccination.
Case report: A novel mutation of glial fibrillary acidic protein gene causing juvenile-onset Alexander disease
Authors: Carmela Romano, Emanuele Morena, Simona Petrucci, Selene Diamant, Martina Marconi, Lorena Travaglini, Ginevra Zanni, Maria Piane, Marco Salvetti, Silvia Romano, Giovanni Ristori
Journal: Front Neurol (2024)
Keywords: alexander disease, gfap mutation, astrocytes, ataxia, leukodystrophy
MeSH terms: Case Reports

Alexander disease (AxD) is a rare inherited autosomal dominant (AD) disease with different clinical phenotypes according to the age of onset. It is caused by mutations in the glial fibrillary acid protein (GFAP) gene, which causes GFAP accumulation in astrocytes. A wide spectrum of mutations has been described. For some variants, genotype-phenotype correlations have been described, although variable expressivity has also been reported in late-onset cases among members of the same family. We present the case of a 19-year-old girl who developed gait ataxia and subtle involuntary movements, preceded by a history of enuresis and severe scoliosis. Her mother has been affected by ataxia since her childhood, which was then complicated by pyramidal signs and heavily worsened through the years. Beyond her mother, no other known relatives suffered from neurologic syndromes. The scenario was further complicated by a complex brain and spinal cord magnetic resonance imaging (MRI) pattern in both mother and daughter. However, the similar clinical phenotype made an inherited cause highly probable. Both AD and autosomal recessive (AR) ataxic syndromes were considered, lacking a part of the proband's pedigree, but no causative genetic alterations were found. Considering the strong suspicion for an inherited condition, we performed clinical exome sequencing (CES), which analyzes more than 4,500 genes associated with diseases. CES evidenced the new heterozygous missense variant c.260 T > A in exon 1 of the glial fibrillary acidic protein (GFAP) gene (NM_002055.4), which causes the valine to aspartate amino acid substitution at codon 87 (p. Val87Asp) in the GFAP. The same heterozygous variant was detected in her mother. This mutation has never been described before in the literature. This case should raise awareness for this rare and under-recognized disease in juvenile-adult cases.
Renal metastasis of gastric cancer caused acute kidney injury which resulted with hemodialysis: case report and literature review
Authors: Ivo Dilber, Stjepko Pleština, Domina Kekez, Ivana Vukovac Šokec, Marijana Ćorić, Juraj Prejac
Journal: Front Oncol (2024)
Keywords: acute renal insufficiency, gastric cancer, hemodialysis, kidney biopsy, renal metastasis
MeSH terms: Case Reports

Gastric cancer ranks fourth among the most commonly diagnosed cancers, with over a million new cases diagnosed worldwide each year. Acute and chronic kidney damage are common in patients with malignant diseases and are associated with increased risk of complications and mortality. Rarely, acute renal insufficiency may result from bilateral infiltration of renal parenchyma by tumor cells from another organ. We present a case of a patient with clinical suspected gastric cancer and metastases to the kidneys leading to acute renal failure requiring hemodialysis. Despite gastric biopsies, no tumor cells were found, while histopathological examination of enlarged intra-abdominal lymph node biopsy material confirmed adenocarcinoma of signet ring cell originating from the digestive system. Stomach cancer was identified as the most likely primary site after the kidney biopsy was performed. To the best of our knowledge, no case of gastric cancer leading to kidney metastases and acute renal failure requiring renal replacement therapy was yet described. Multidisciplinary collaboration among oncologists, urologists, radiologists, pathologists, and nephrologists is essential for the optimal treatment outcome of these patients, who generally have a poor prognosis.
Open Dislocation of the Scaphoid With an Associated Hamate Fracture and Fourth Metacarpal Fracture
Authors: Cay Mierisch, Robert Wood, Jacob Pearson, Gary Ulrich, Madeleine Vergun
Journal: J Hand Surg Glob Online (2023)
Keywords: fourth metacarpal fracture, hamate fracture, open, scaphoid dislocation, volar
MeSH terms: Case Reports

Scaphoid dislocation represents a rare injury with only a few case reports and limited case series reported in the literature. The majority of scaphoid dislocations result from a high-energy trauma causing hyperextension and ulnar deviation of the wrist. The severity of a scaphoid dislocation depends on the degree of periscaphoid ligamentous injury as well as the presence of concomitant injuries, such as axial carpal dissociation. The most common complication after a scaphoid dislocation is scapholunate dissociation, which emphasizes the importance of scapholunate ligament repair/reconstruction in these cases. We report a case of an open scaphoid dislocation with the associated injuries of a hamate fracture and fourth metacarpal fracture treated with an open reduction of the scaphoid, open ligamentous repair and augmentation of the involved carpal ligaments, and open reduction internal fixation of both the hamate and the fourth metacarpal fractures.
Morgagni Hernia: A Rare Presentation in a Young Adult
Authors: Kumar Sambhav, Kumar Dushyant, Shailza Raj Jayaswal
Journal: Cureus (2024)
Keywords: congenital diaphragmatic hernia, laparoscopic repair, morgagni hernia, omental fat, surgical repair
MeSH terms: Case Reports

Morgagni hernia is the rarest diaphragmatic hernia, occurring in only about 2% of all cases. Despite its infrequent presentation, it poses significant morbidity once the diagnosis is missed. We present a rare case of a young adult female with no predisposing factors who experienced dyspnea and retrosternal pain with unremarkable clinical findings. A posteroanterior view of the chest roentgenogram revealed a nonspecific triangular opacity at the right cardiophrenic angle. A computed tomography (CT) scan of the thorax confirmed the suspicion of a right anteromedial diaphragmatic defect with omental herniation. Exploratory laparoscopic primary repair of the hernia orifice was performed with non-absorbable sutures. CT helps in confirming the condition, and surgical repair is recommended. Morgagni hernia can present as asymptomatic or with respiratory symptoms. There is no consensus on the type of approach, but a minimally invasive approach is being preferred even in asymptomatic cases.
Exploring Skull Base Osteomyelitis: Comprehensive Case Reports and Management Strategies
Authors: Nur Farahin Rosdi, Asma Abdullah, Thean Yean Kew, Juliana Fairuz Maktar, Farah Liana Lokman
Journal: Cureus (2024)
Keywords: facial nerve paralysis, high-resolution computed tomography scan, hoarseness, otitis externa, skull base osteomyelitis
MeSH terms: Case Reports

Skull base osteomyelitis is a not commonly encountered but potentially fatal consequence of untreated necrotizing otitis externa. Early recognition and appropriate treatment are crucial to prevent serious complications such as cranial nerve palsies, meningitis, and intracranial abscess formation. The case reports presented in this study provide a rich depiction of the clinical presentation, diagnostic challenges, and interventions employed. Early recognition and appropriate management of skull base osteomyelitis are crucial to prevent complications and improve patient outcomes.
Case report: Early (molecular) diagnosis is the clue: report on ALDH7A1 deficiency in newborns
Authors: Patryk Lipiński, Katarzyna Wójcicka-Kowalczyk, Anna Bogdańska, Ewa Ehmke, Magdalena Pajdowska, Katarzyna Skrzypek, Agnieszka Charzewska, Dorota Hoffman-Zacharska
Journal: Front Genet (2024)
Keywords: 6-oxopipecolate, aldh7a1 gene, developmental and epileptic encephalopathies, next-generation sequencing, pyridoxine-dependent epilepsy
MeSH terms: Case Reports

The first-tier genetic testing for developmental and epileptic encephalopathies (DEE) is now increasingly used in routine clinical practice. Antiquitin deficiency, also referred to as pyridoxine-dependent epilepsy (PDE-ALDH7A1), represents an inherited metabolic disorder with the phenotype of an early infantile DEE. In addition to the fact that biochemical biomarkers of PDE-ALDH7A1, including α-aminoadipic semialdehyde dehydrogenase, pipecolic acid (PA), Δ1-piperideine-6-carboxylate, and 6-oxopipecolate (6-oxo-PIP), are well-characterized, and their analysis and usefulness have some limitations. Here, we describe the case of a newborn presenting with seizures from the first hours of life, who was resistant to standard antiepileptic drugs and was found to be a biallelic compound heterozygote of two clearly pathogenic variants in the ALDH7A1 gene based on targeted next-generation sequencing (NGS). The diagnostic process of PDE-ALDH7A1 was limited by the possibility to determine only urinary PA and 6-oxo-PIP (urinary organic acid profile using the GC-MS method), and the exogenous peak of levetiracetam, due to the fact that it has a similar retention time as 6-oxo-PIP, masked the detection of 6-oxo-PIP.
Case report: Lichenoid eruption under immunotherapy with MK-4830 and pembrolizumab in a breast cancer patient
Authors: Zofia Kachlik, Izabela Błażewicz, Aleksandra Ciarka, Roman J Nowicki
Journal: Front Pharmacol (2024)
Keywords: mk-4830, pd-1 inhibitor, breast cancer, immune checkpoint inhibitors, immune-related adverse events, lichen planus, lichenoid eruption, pembrolizumab
MeSH terms: Case Reports

Background:
Immune checkpoint inhibitors (ICIs) have revolutionized cancer treatment, yet they can induce immune-related adverse events (irAEs), including cutaneous toxicities such as lichenoid eruptions. Pembrolizumab, a PD-1 inhibitor, is known for its association with lichen-planus-like reactions, while the side effect profile of combining immunotherapy with MK-4830, a novel fully human IgG4 monoclonal antibody that targets ILT-4, remains limited.
Case report:
We present a case of a 47-year-old female with metastatic breast cancer who developed a grade 2 Common Terminology Criteria for Adverse Events (CTCAE) lichenoid reaction after 9 months of MK-4830 and pembrolizumab use. Confluent, erythematous papules with Wickham's striae appeared predominantly on the extremities. Initial therapy with high-potency topical corticosteroids proved insufficient, however prednisone 40 mg daily resulted in satisfactory remission of lichen-planus-like reaction, permitting continued immunotherapy without dosage adjustment.
Conclusion:
This case highlights the novel occurrence of lichenoid eruption induced by MK-4830 and pembrolizumab in breast cancer treatment. The patient was successfully treated with oral prednisone, which controlled the skin symptoms without interrupting ICI therapy. We emphasize that early diagnosis and treatment of low-grade lichenoid eruption can prevent the cessation of ICIs, thereby combining the benefits of managing irAEs and avoiding cancer progression, leading to a better long-term prognosis.
Case report: Movement analysis in oncological rehabilitation: proposal of a kinematic and surface electromyographic protocol in breast oncology
Authors: Giulia Bongiorno, Andrea Tomasi, Giulio Vigni, Alessandro Rizzardo, Helena Biancuzzi, Francesca Dal Mas, Rym Bednarova, Luca Miceli
Journal: Front Hum Neurosci (2024)
Keywords: breast cancer, kinematics analysis, personalized rehabilitation, pulsed radiofrequency, surface electromyography
MeSH terms: Case Reports

Introduction:
Breast cancer disease often affects the ipsilateral shoulder joint, with pain and joint limitation. Proper pain management, which can be obtained using, for example, pulsed radiofrequency of the suprascapular nerve, can help the physiotherapist mitigate patient pain. The modern technologies of kinematic analysis and surface electromyography of movement analysis can give further support in building a personalized rehabilitation program, based on the quantitative study of movement, in this case of the upper limb.
Methods:
A brief case report was conceived to develop and test the evolution of a shoulder joint analysis protocol based on an inertial accelerometer and non-invasive surface electromyography.
Results:
An analysis algorithm was defined to adapt to the needs of patients operated on at the breast based on a kinematic component (ROM - range of movement - and Jerk index) and an electromyographic one (study of muscle behavior in groups of four). The coactivations were also evaluated, both as an average value and in graphical form, to offer the physiotherapist a complete overview of the movement of the upper limb.
Discussion:
The promising protocol results underline its strengths, including the simplicity of use, combined with the reduced time required for processing the reports and the portability of the PC-sensors complex, making these analyses potentially valuable for patient care.
Revisiting percutaneous balloon mitral valvotomy technique and safety in various population: an evidence-based case report and literature review
Authors: Faisal Habib, Brian Mendel, Rivhan Fauzan, Ali Nafiah Nasution
Journal: Front Cardiovasc Med (2024)
Keywords: atrial fibrillation, mitral stenosis, over-the-wire, percutaneous balloon mitral valvotomy, pregnancy, rheumatic heart disease, veno-arterial loop
MeSH terms: Case Reports

Percutaneous balloon mitral valvotomy (PBMV) is a good and preferred therapy choice over surgical commissurotomy for patients with rheumatic mitral stenosis (MS). However, interventional cardiologists must recognize that treating patients with rheumatic MS poses unique challenges for each patient, especially in special populations such as pregnant patients or patients with arrhythmias like atrial fibrillation (AF), which can complicate procedures. Based on information from observational studies, PBMV may be a safe and efficient treatment for improving outcomes in MS women who do not have substantial subvalve illness in a specific demographic. A successful PBMV helps to tolerate hemodynamic changes during pregnancy and dramatically reduces mortality. However, there is a paucity of studies on women with poor valve morphology who are not contraindicated, and it has to be seen if PBMV is used in these situations during pregnancy. Conversely, AF leads to a lower PBMV success rate as well as worse long-term and in-hospital outcomes.
A case report of atypical sleep in an ischemic stroke patient with psychiatric symptoms caused by olanzapine
Authors: Huixin Zhao, Shuang Li, Yanmei Wang
Journal: Front Neurol (2023)
Keywords: rbd (rapid-eye-movement sleep behavior disorder), adverse reactions, anomalous sleep, cerebrovascular disease, olanzapine
MeSH terms: Case Reports

Antipsychotics, tricyclic and 5-hydroxytryptamine reuptake inhibitors (SSRI) and 5-hydroxytryptamine and norepinephrine reuptake inhibitor (SNRI) antidepressants, and monoamine oxidase inhibitors can produce dream-rendering behaviors and/or dystonic deregulation during REM sleep. Acute episodes are also seen with withdrawal from alcohol or sedative-hypnotics, and the use of tricyclic and SSRI antidepressants. In this article, we present a case of olanzapine treatment of a patient with cerebrovascular disease with psychobehavioural symptoms. The patient was an elderly patient who developed psychobehavioural symptoms after a sudden cerebral infarction. Initially, his symptoms improved when he took olanzapine (5 mg orally once/night). However, the patient subsequently developed symptoms of hypersomnia when he continued to take olanzapine, and the symptoms of hypersomnia gradually worsened as the dose of olanzapine was gradually increased. Benzodiazepines are often used to treat anomalous sleep, and clonazepam is one of the commonly prescribed drugs. In this case, the patient's abnormal sleep behavior was alleviated after treatment with clonazepam. As an atypical antipsychotic drug, olanzapine has been reported to cause abnormal sleep behavior during clinical use, and only one case has been reported in China. Clinicians should be aware that heteromorphic sleep can occur in patients treated with olanzapine.
Successful management of bilateral orbital metastases from invasive lobular breast cancer with abemaciclib and letrozole: a case report and literature review
Authors: Nuno Rodrigues Alves, Ana Filipa Duarte, David Fernandes Ribeiro, Rita Sousa Silva, Bruno Almeida Carvalho, Diogo Alpuim Costa
Journal: Front Oncol (2024)
Keywords: cdk4/6 inhibitor, abemaciclib, breast cancer, case report, letrozole, metastases, orbit, review
MeSH terms: Case Reports

Breast cancer is a significant global health concern, contributing to substantial morbidity and mortality among women. Hormone receptor-positive (HR+)/HER2-negative (HER2-) breast cancer constitutes a considerable proportion of cases, and significant advancements have been made in its management. CDK4/6 inhibitors (CDK4/6is) are a new targeted therapy that has demonstrated efficacy in adjuvant, advanced and metastatic settings. The propensity of lobular breast carcinomas for estrogen-rich sites, such as periocular tissues and orbital fat, may explain their tendency for orbital metastases. Current treatment strategies for these cases are predominantly palliative, and the prognosis remains poor. This article presents a unique case of a 51-year-old female with progressive right periorbital edema, pain, and limited ocular motility. An imaging work-up showed bilateral intra and extraconal orbital infiltration, which was biopsied. The histopathologic analysis disclosed mild chronic inflammatory infiltrate with thickened fibrous tissue and moderately differentiated lobular carcinoma cells, positive for GATA3 and CK7 markers, with 100% of tumor nuclei expressing estrogen receptors (ER+). A systemic evaluation showed a multicentric nodular formation in both breasts. Further diagnostic assessments unveiled an HR+/HER2- bilateral lobular breast carcinoma with synchronous bilateral orbital metastases. Systemic treatment was initiated with abemaciclib 150mg twice daily and letrozole 2.5mg once a day. However, this regimen was interrupted due to toxicity. After two weeks, treatment was resumed with a reduced abemaciclib dose (100mg twice daily) alongside letrozole, with a reasonable tolerance. Nearly two years after the initial diagnosis of inoperable metastatic cancer, the patient remains on the same systemic treatment regimen with no signs of invasive disease. This case report is the first of a patient presenting with bilateral orbital metastases from bilateral lobular breast cancer, showing an impressive and sustained response to a first-line treatment regimen combining abemaciclib and letrozole. A literature review on bilateral orbital metastases from breast cancer is also presented.