OpenMed/multicare-articles huggingface dataset:
Melanotic neuroectodermal tumor of infancy arising in the skull: a case report
Authors: Hajar Hamadi, Taib El Amrani El Idrissi, Ayman Gallouli, Lamia Benantar, Khalid Aniba
Journal: Pan Afr Med J (2024)
Keywords: melanotic neuroectodermal tumor, calvaria, case report, melanotic progonoma, skull
MeSH terms: Magnetic Resonance Imaging, Neuroectodermal Tumor, Melanotic / diagnosis, Neuroectodermal Tumor, Melanotic / pathology, Neuroectodermal Tumor, Melanotic / surgery, Skull Neoplasms / diagnosis, Skull Neoplasms / pathology, Skull Neoplasms / surgery, Case Reports, Female, Humans, Infant, Neoplasm Recurrence, Local

Melanotic neuroectodermal tumor of infancy is a rare and usually benign neoplasm occurring in children of young age. This pigmented tumor typically presents in the head and neck region, but other locations may be involved. We report in this article a rare case of a 3-month-old girl presenting with a slowly growing mass localized in the anterior fontanelle. The patient's magnetic resonance imaging (MRI) showed a mass extending both extracranial and intracranial, and compressing the adjacent structures. The patient underwent subtotal resection of the mass and a histological study confirmed the diagnosis of melanotic neuroectodermal tumor of infancy. The patient presented later on with a recurrence. An early diagnosis and surgical management for these tumors remain the only guarantees to limit the progression and prevent their recurrence and metastasis.
Review of metastasis to meningiomas with case examples
Authors: Magnus Sættem, Terje Sundstrøm, Anna K Myrmel Sæle, Rupavathana Mahesparan
Journal: Brain Spine (2024)
Keywords: adenocarcinoma, case report, meningioma, metastasis, prostate, tumor-to-meningioma metastasis
MeSH terms: Case Reports

Introduction:
A tumor-to-tumor metastasis (TTM) is a rare metastatic process where a primary malignant tumor metastasizes to another tumor, most commonly a benign tumor such as a meningioma. Here, we present two recent cases of tumor-to-meningioma metastases (TMM) from our clinical practice and review of recent literature. The primary cancers were prostate and breast cancer, respectively.
Material and methods:
We reviewed the electronic medical records of the two patients and conducted a literature review of TTM, focusing on biological mechanisms related to TMM.
Results:
Our first patient, a man with a history of stable prostate cancer, underwent resection of two WHO grade 1 meningiomas, and the largest tumor was found to have TMM. Our second patient, a woman with progressive breast cancer, was operated for a WHO grade II meningioma, and the meningioma harbored breast cancer metastases. TMM is a rare occurrence, but breast cancer is a much more frequent cause than prostate cancer and we reviewed 50 cases. Only 15 of cases of TMM from prostate cancer have been described.
Discussion and conclusion:
TMM is a rare phenomenon, but it is important to be aware of this as more and more patients live with cancer and meningiomas have a high prevalence, The possibility of TMM may impact not only both the surgical and oncological treatment but also surveillance of incidental meningiomas.
Case report: A new de novo mutation of the Troponin T2 gene in a Chinese patient with dilated cardiomyopathy
Authors: Huan Yang, Ke Gong, Yong Luo, Lei Wang, Zhiping Tan, Yao Yao, Li Xie
Journal: Front Cardiovasc Med (2023)
Keywords: tnnt2, dilated cardiomyopathy, genome, mutation, whole-exome sequencing
MeSH terms: Case Reports

Dilated cardiomyopathy (DCM) is a cardiovascular disease characterized by persistent ventricular dilatation and systolic dysfunction. DCM has a variety of causes, including myocarditis; exposure to narcotics, alcohol, or other toxins; and metabolic or endocrine disorders. Genetic factors play a dominant role in 30%-40% of DCM cases. Here, we report a case of DCM with very severe heart failure. Because of the severity of heart failure, the patient underwent heart transplantation. We speculated that the patient's DCM might be due to a mutation; hence, we performed whole-exome sequencing of the patient and their parents, which showed a de novo heterozygous mutation (NM_001001431.2c.769G>A:p.E257K) in TNNT2, which was considered pathogenic according to the ACMG pathogenicity assessment. This finding expands the genetic map of DCM and TNNT2 and will be important for future studies on the genetic and disease relationships between DCM and TNNT2.
Safety of First-Line Nivolumab Plus Ipilimumab in Very Old (≥ 80 Years) Patients With Unresectable Malignant Pleural Mesothelioma: A Retrospective Single-Center Case Series
Authors: Takayuki Shimamoto, Yoshie Morimoto, Naohiro Nitta, Rie Yoshida, Nozomi Tani
Journal: Cureus (2024)
Keywords: age, case series, malignant pleural mesothelioma, nivolumab plus ipilimumab, safety
MeSH terms: Case Reports

Nivolumab plus ipilimumab as the first-line treatment results in superior survival outcomes in patients with malignant pleural mesothelioma (MPM). However, its safety in old (≥ 80 years) patients with MPM has not been elucidated yet. Three male patients with MPM, aged 80-90 years, were treated with nivolumab plus ipilimumab as the first-line treatment in our hospital. All of them discontinued the treatment due to adverse events. The overall survival from treatment initiation was 2.5, 3.5, and 4.0 months, respectively. Nivolumab plus ipilimumab should be used cautiously in very old patients with MPM.
Case Report: Micafungin for treating Candida glabrata urinary infection: a clinical case in a premature neonate
Authors: Carlos Javier Parramon-Teixido, Carme Garcia Esquerda, Marie Antoinette Frick, Cinzia Tripodi, Laura Gomez-Ganda, Cesar Wenceslao Ruiz-Campillo, Maria Josep Cabañas-Poy
Journal: Front Pediatr (2024)
Keywords: candida glabrata, case report, micafungin, premature infant, urinary tract infection
MeSH terms: Case Reports

Urinary tract infections (UTIs) associated with indwelling urinary catheterization (IUC) in premature newborns (PNBs) pose a significant challenge in neonatal intensive care units (NICUs) due to the vulnerability of this population to infections and the necessity of invasive procedures. While bacterial UTIs have historically been predominant, there is a rising incidence of fungal pathogens, particularly non-albicans Candida strains like Candida glabrata and Candida tropicalis, attributed to broad-spectrum antibiotic use. Diagnosis of fungal UTIs in a PNB relies on culturing Candida spp. from properly collected urine samples, particularly critical in very low birth weight (VLBW) PNBs because of the risk of invasive candidiasis and associated complications. We present a case of an extremely premature newborn (EPNB) successfully treated for a UTI caused by C. glabrata with micafungin. Our case exhibits micafungin as a potentially safe and effective alternative for treating C. glabrata UTIs in neonates.
A neonatal case of vascular ring with Alagille syndrome
Authors: Pei-Shan Lee, Jose A Silva Sepulveda, Miguel Del Campo, Sandra L Leibel, Amber Hildreth, Krishelle L Marc-Aurele
Journal: SAGE Open Med Case Rep (2023)
Keywords: alagille syndrome, jag1, vascular ring, cardiovascular anomalies, cholestasis
MeSH terms: Case Reports

A female infant, born at 37 week 5 days to a mother via induced vaginal delivery for preeclampsia, was prenatally diagnosed with a right aortic arch with vascular ring. On the third day of life, the infant exhibited a bronze-gray coloration, and a direct bilirubin of 1.7 mg/dL was detected. The abdominal ultrasound did not visualize the gallbladder. Clinically, the infant displayed features consistent with Alagille syndrome, including unusual facial appearance, butterfly vertebrae, cardiovascular defects, and cholestasis. The geneticist noted that the mother of the patient also exhibited similar features. Both the infant and the mother were diagnosed with Alagille syndrome, both having the same heterozygous JAG1 gene (NM_000214.2) variant (c.1890_1893del, p.Ile630Metfs*112). We believe that the vascular ring observed in our patient is the first reported instance of a vascular ring associated with Alagille syndrome.
Atypical Ocular Toxoplasmosis With Remote Vasculitis and Kyrieleis Plaques
Authors: Tan Teng Siew, Shahidatul-Adha Mohamad, Rafidah Sudarno, Haslinda Md Said
Journal: Cureus (2024)
Keywords: atypical, atypical ocular toxoplasmosis, kyrieleis plaques, ocular toxoplasmosis, remote vasculitis
MeSH terms: Case Reports

Retinal vasculitis is common in ocular toxoplasmosis (OT) and typically occurs in the same quadrant as retinochoroiditis. This is a case of atypical ocular toxoplasmosis with remote vasculitis distant from the retinochoroiditis lesion. Examination of the left fundus showed the classic posterior segment finding of "headlight in the fog" in the absence of a chorioretinal scar. Retinal vasculitis was noted in all four quadrants at the periphery far from the retinitis area. A presumptive diagnosis of acute panuveitis secondary to ocular toxoplasmosis was made despite the enzyme-linked immunosorbent assay (ELISA) for Toxoplasmosis antibody being pending. The patient was treated empirically with oral sulfamethoxazole-trimethoprim for eight weeks and received both oral and topical corticosteroids. His symptoms and ocular signs have significantly improved. This case report highlights an atypical remote localization of vasculitis with the classic appearance of retinochoroiditis and vitritis, which is highly due to toxoplasmosis. Early initiation of antibiotic therapy is recommended despite pending serology to ensure a good final visual and ocular outcome.
Double Parathyroid Adenoma Presenting as One Mass: A Case Report
Authors: Rugilė Petruokaitė, Vitalijus Eismontas, Narimantas Evaldas Samalavičius
Journal: Acta Med Litu (2024)
Keywords: double parathyroid adenoma, parathyroidectomy, primary hyperparathyroidism
MeSH terms: Case Reports

Background and objectives:
Primary hyperparathyroidism is a common endocrinological condition, which is usually caused by solitary parathyroid adenoma. The aim of this article is to present a case of double adenoma presenting as one and literature review on this topic.
Case presentation:
56 years old female suffering from generalized fatigue, bone pain, unstable body weight and palpitations was diagnosed with primary hyperparathyroidism. Further investigation revealed elevated parathyroid hormone (PTH), ionized and total calcium levels. Imaging showed two adenomas merging into one. Parathyroidectomy was performed and final intraoperative PTH (IOPTH) decreased by 71.6%. Parathyroid adenoma measuring 40 mm x 15 mm x 11 mm and weighing 1 g 483 mg was excised. 7 weeks after surgery patient was feeling well but her PTH level was elevated again.
Conclusions:
As far as we know, the double parathyroid adenoma presented in this case report is the largest reported in the Northern Europe and the first one that presents as one mass within the region. Double adenoma increases the risk of recurrent primary hyperparathyroidism (PHPT) and requires more careful and longer follow up after surgery than solitary adenomas. Final IOPTH must decrease by at least 50% within 10 minutes. This case shows that despite final IOPTH drop by more than 50%, after few weeks normocalcemic elevated parathyroid hormone (NCePTH) phenomenon was noticed. This phenomenon does not indicate surgical failure.
Mycotic aneurysms: uncommon pathogens and treatment conundrums
Authors: Akshatha Ravindra, Santhanam Naguthevar, Deepak Kumar, Rengarajan Rajagopal, Pushpinder Singh Khera, Vibhor Tak, Neetha Thayil Ramankutty, Durga Shankar Meena, Naresh Midha, Gopal Krishana Bohra, Mahendra Kumar Garg
Journal: Access Microbiol (2024)
Keywords: blood culture, mycotic aneurysm
MeSH terms: Case Reports

Introduction. Mycotic aneurysms, characterized by vessel wall dilation resulting from infections including bacteria, fungi, and viruses, are a rare but severe consequence of systemic infections. The term 'mycotic' was coined by William Osler to describe the first instance of a fungal-induced infected aneurysm. These aneurysms, accounting for 0.6% of aneurysms in Western countries, carry a higher risk of rupture compared to uninfected aneurysms. While the femoral artery, aorta, and intracranial arteries are commonly affected, pathogens causing mycotic aneurysms vary across regions. Diagnostic challenges arise from nonspecific symptoms such as fever, and discomfort. To prevent the substantial morbidity and mortality associated with mycotic aneurysms, timely identification and treatment are paramount. We present a case series highlighting mycotic aneurysms caused by some rare pathogens - Salmonella Paratyphi A, Streptococcus pneumoniae, and Pseudomonas aeruginosa. Methods. This case series involves three patients diagnosed with mycotic aneurysms due to unusual pathogens. We describe each patient's clinical presentation, medical history, physical examination findings, laboratory results, imaging studies, and the diagnostic process leading to the identification of the causative pathogens. Results. The first patient is a 70-year-old gentleman who presented with a ruptured infra-renal abdominal aortic pseudoaneurysm caused by Salmonella Paratyphi A. The second patient is a 66-year-old gentleman with a Streptococcus pneumoniae-associated descending thoracic aortic pseudoaneurysm. The third patient is a 70-year-old gentleman with a ruptured descending thoracic aortic aneurysm with an occult aorto-oesophageal fistula due to Pseudomonas aeruginosa infection. The description highlights unique clinical features, laboratory findings, imaging results, and the management approaches undertaken in each patient. Conclusion. Mycotic aneurysms, pose diagnostic challenges due to their nonspecific symptoms. Early identification and intervention are essential to mitigate the severe complications associated with these aneurysms. The presented cases underscore the need for a comprehensive approach to diagnosis and management, ensuring optimal outcomes for patients affected by mycotic aneurysms.
Pediatric Inﬂammatory Myoﬁbroblastic Tumor of Rectosigmoid Junction: A Case Report and Review of the Literature
Authors: Mahsa Soti Khiabani, Maryam Monajemzadeh, Hojatollah Raji, Fatemeh Zamani, Mohammad Vaseie, Neda Pak
Journal: Iran J Pathol (2024)
Keywords: computed tomography, diagnosis, inflammatory myofibroblastic tumor, x-ray
MeSH terms: Case Reports

The occurrence of rectosigmoid junction inflammatory myofibroblastic tumor (IMT) is uncommon in children. This is a rare form of mesenchymal tumor, belonging to the category of soft tissue tumors, and can be found at any anatomical site from the central nervous system to the gastrointestinal tract. Our patient was a 10-year-old male subject complaining of lack of defecation and constipation. The patient had decreased the frequency of defecation and constipation about two weeks before his referral and had not improved despite the use of laxatives. The abdomen was completely distended and there was no tenderness or guarding in the examination. Several airfluid levels are shown on the abdominal X-ray. In the ultrasound, free fluid was reported in the interlobular and pelvic spaces. The patient was transferred into the operating room. A tumor of the rectosigmoid junction was detected. Histopathologic studies showed evidence of IMT. IMT is a rare neoplasm of unknown origin, which may occur in various sites of the body. Complete surgical removal is usually curative, but early detection of recurrence is required. Treatment options include chemotherapy, radiation therapy, and immunotherapy. Further investigations are needed to improve the understanding and management of this rare tumor.
Subcutaneous foslevodopa in akinetic crisis. A case report from the neurological intensive care unit
Authors: Moritz A Loeffler, Annerose Mengel, Constanze Single, Daniel Weiss, Katharina Feil
Journal: Front Med (Lausanne) (2024)
Keywords: parkinson, akinetic crisis, case report, foslevodopa, hydrocephalus
MeSH terms: Case Reports

Introduction:
Akinetic crisis is a severe deterioration of motor performance occurring in syndromes with pre- or postsynaptic dopaminergic deficit, necessitating effective dopamine replacement therapy. The subcutaneously applicable levodopa derivative foslevodopa represents a new therapeutic option for patients with advanced Parkinson's disease as a continuous therapy. However, its potential role as a parenteral treatment option for akinetic crisis has not been investigated, yet.
The case:
A 78 year-old patient who had developed akinetic-rigid symptomatology in the context of normal pressure hydrocephalus was admitted to our intensive care unit after experiencing an acute exacerbation of akinesia in the context of pulmonary infection. Off-label administration of subcutaneous foslevodopa was initiated after repeated failures to insert a gastric tube for enteral application of levodopa and contraindications against amantadine and apomorphine.
Results:
Following the administration of a subcutaneous test dose, continuous application of foslevodopa via a B. Braun syringe pump was gradually increased to 0.3 mL/h during the daytime and 0.15 mL/h at night, corresponding to a levodopa equivalent dosage of 1,020 mg/d. This was accompanied by an improvement of the MDS-UPDRS III score from 85 points to 59 points after 72 h.
Discussion:
Treatment of an akinetic crisis with subcutaneous foslevodopa in an intensive care unit setting has proven to be safe and effective in a patient with acute akinesia associated with dopamine-sensitive hydrocephalus. Due to the pathophysiological distinction from Parkinson's disease, there may be differences in therapeutic response and side effects. Nevertheless, the method used here can serve as a protocol basis for the treatment of akinetic crises with foslevodopa in general and as a starting point for further research.
An Extended Follow-Up on Blood Pressure in a Patient With New-Onset Essential Hypertension: Early-Morning Home, Morning Home, and Office Readings
Authors: Yukihito Higashi, Shinji Kishimoto
Journal: Cureus (2024)
Keywords: early-morning home blood pressure, hypertension, morning home blood pressure, office blood pressure, risk factor
MeSH terms: Case Reports

The patient was a 63-year-old man with a 24-year history of hypertension. During long-term follow-up, when outpatient clinic blood pressure and morning blood pressure are well-regulated, exceptionally elevated early-morning blood pressure does not play a significant role in the development of hypertensive target organ disease or cardiovascular disease.
One-Year Follow-Up of Subthalamic Nucleus Deep Brain Stimulation in SNCA Mutation Parkinsonism: A Case Report
Authors: Eve Fouarge, Gaëtan Garraux, Bruno Kaschten, Anne-Laure Salado, Eric Parmentier
Journal: Tremor Other Hyperkinet Mov (N Y) (2023)
Keywords: monogenic parkinson’s disease, snca mutation, deep brain stimulation, subthalamic nucleus
MeSH terms: Deep Brain Stimulation, Parkinson Disease / drug therapy, Parkinson Disease / therapy, Subthalamic Nucleus, Case Reports, Activities of Daily Living, Female, Follow-Up Studies, Humans, Middle Aged, Mutation / genetics, Treatment Outcome, alpha-Synuclein / therapeutic use, alpha-Synuclein, SNCA protein, human

Background:
Deep brain stimulation (DBS) has shown some efficacy in monogenic Parkinson's disease; however, data about its long-term benefit in SNCA mutations remain scarce.
Case report:
Subthalamic nucleus DBS was implanted in a 60-year-old female patient with Parkinson's disease due to SNCA duplication. One year later, the patient walked unassisted and was independent for most activities of daily living, without requiring any anti-Parkinson's medication.
Discussion:
To our knowledge, four cases of bilateral subthalamic DBS have been reported previously. This case report adds an additional body of evidence of improved one-year outcome after DBS surgery in a patient with SNCA mutation.
Highlights:
This is a case report of a patient with genetic parkinsonism due to SNCA duplication undergoing bilateral subthalamic nucleus (STN) deep brain stimulation (DBS) surgery. The outcome was favorable one year after implantation, with the patient coming off all anti-Parkinson's medications. This further clarifies DBS outcome in monogenic Parkinson's disease.
Extraosseous Calcifying Odontogenic Cyst Initially Interpreted as a Parulis
Authors: Karla Lizeth Santana-Arenas, Israel Guardado-Luevanos, Miguel Padilla-Rosas, Mario Nava-Villalba
Journal: Case Rep Dent (2024)
MeSH terms: Case Reports

Extraosseous variants of odontogenic cysts are an infrequent clinical finding, although they have a relatively indolent biological behavior compared to their intraosseous counterparts; due to their nature and clinical appearance, these lesions can be confused with multiple entities that affect soft tissues, so their diagnosis can only be achieved through surgical removal and subsequent histopathological analysis. The extraosseous/peripheral variant of calcifying odontogenic cyst (E/PCOC) has a heterogeneous clinical presentation mainly in terms of size and involvement or not of adjacent anatomical structures such as bone and teeth; in addition, there are few cases reported to date; thus, there are still clinical features to be elucidated. This report presents a child affected by E/PCOC in an unusual location, as well as its therapeutic management, which at first time was suspected of endodontic nature, due to a history of dental trauma.
Cystic adenomyoma of the uterus: Case report and literature review
Authors: Lei Zhang, Zhaojun Guo, Yicun Pang, Jun Zhao, Jun Liang, Xiaolin Ma
Journal: Open Life Sci (2024)
Keywords: cystic adenomyoma of the uterus, diagnosis, dysmenorrhoea, surgery
MeSH terms: Case Reports

Cystic adenomyosis is a rare type of adenomyosis. The main clinical manifestation of uterine cystic adenomyoma is severe dysmenorrhoea, and the condition can be diagnosed by relevant clinical examination. The preferred treatment, with a good prognosis, is lesion resection. The clinical data of a patient with uterine cystic adenomyoma recorded at the Third Hospital of Hebei Medical University are reported herein. A 39-year-old female patient presented with tolerable menstrual pain and aggravated dysmenorrhoea, which she had experienced for 4 years, and menorrhagia, which she had had for approximately 1 year. Ultrasound and tumour marker tests suggested abnormalities, and magnetic resonance imaging confirmed a diagnosis of uterine cystic adenomyoma. A hysteroscopy and intrauterine lesion electrocision were performed, and the results of postoperative pathology tests suggested that the endometriosis cysts had returned to normal after the postoperative intervention. The analysis of the clinical manifestations and diagnosis and treatment of uterine cystic adenomyoma can improve the understanding of the disease and reduce the rates of misdiagnosis and missed diagnoses to ensure early detection with timely diagnosis and treatment.