OpenMed/multicare-articles huggingface dataset:
Malicious Tumor? Pathological Fracture of the Femur in Children Caused by Myelolipoma: A Case Report and Review of Literatures
Authors: Xiaoyu Shen, Qiang Yao, Xiangbei Qi, Lijie Ma
Journal: Case Rep Oncol Med (2024)
MeSH terms: Case Reports

Myelolipoma is a kind of benign lipoma containing myeloid cells. It is a rare type of tumor that typically presents as an occasional adrenal tumor, generally manifesting as a nonfunctional adrenal mass. Although it can occur in extra-adrenal tissues, its occurrence in bone tissue is extremely rare. Most cases are discovered accidentally during physical examinations of adults, and there are currently no reports of cases with pathological fractures as the main symptoms. We present a case of a 15-year-old teenager who developed a pathological fracture caused by femoral myelolipoma. The diagnosis of the specific type of bone tumor of the patient was determined through pathology and imaging. To treat the condition, we utilized a technique known as the "soft drill" to fully access the tumor space, remove the bone septum, and scrape away the diseased tissue. The fracture was then stabilized using a hybrid external fixation. After a 2-year follow-up period, there was no recurrence of the bone tumor. This case is the first case of intraosseous myelolipoma that occurred in a minor with the initial symptom of pathological fracture, filling the gap in our existing body of knowledge and providing a reference for the treatment of this type of intraosseous myelolipoma.
Case Report: Gene expression profiling of COVID-19 vaccination-related lymphadenopathies reveals evidence of a dominantly extrafollicular immune response
Authors: Thomas Menter, Carl P Zinner, Christoph T Berger, Philip Went, Alexandar Tzankov
Journal: Front Immunol (2023)
Keywords: covid-19, tlr, gene expression profiling, lymphadenopathy, mrna, plasmablast, vaccine
MeSH terms: COVID-19 Vaccines / adverse effects, COVID-19, Lymphadenopathy / etiology, Case Reports, Research Support, Non-U.S. Gov't, 2019-nCoV Vaccine mRNA-1273, Female, Gene Expression Profiling, Humans, Hyperplasia, Immunologic Memory, SARS-CoV-2, Vaccination / adverse effects, 2019-nCoV Vaccine mRNA-1273, COVID-19 Vaccines

mRNA-based vaccines against SARS-CoV-2 have been proven to be very efficient in preventing severe COVID-19. Temporary lymphadenopathy (LA) has been observed as a common adverse event following immunization. Here we describe a case series of three female patients with prominent local to generalized LA after SARS-CoV-2 mRNA-1273 vaccination, which led to lymph node biopsy due to the suspicion of lymphoma or metastasis. All three patients morphologically showed similar patterns of follicular hyperplasia and especially extrafollicular blast activation. Two of the three patients only had short-lasting humoral immune responses to the vaccination. Gene expression profiling (GEP) using the HTG Immune response panel revealed that all three patients clustered together and clearly differed from the GEP-patterns of COVID-19, infectious mononucleosis and non-specific follicular hyperplasia. The closest similarities were seen with lymph nodes showing extrafollicular activation of B-blasts as well as hemophagocytosis. The GEP of the vaccination-induced LA was reminiscent of an immune response with little potential of immunologic memory. mRNA-1273 vaccination-induced LA may to a certain extend reflect disordered immune response with potentially poor immunologic memory in affected individuals.
Schizophrenia-Like Psychotic Symptoms Associated to Leigh Syndrome
Authors: F Jaballah, R Ben Soussia Nouira, S Mallouli, H Boussaid, S Younes, L Zarrouk
Journal: Case Rep Psychiatry (2023)
MeSH terms: Case Reports

Introduction:
Leigh syndrome (LS) is a mitochondrial disease characterized by subacute necrotizing encephalomyelopathy with an estimated incidence of 1:40,000 births. The comorbidity of psychotic symptoms noted in mitochondrial and psychiatric diseases has spurred interest in the effects of DNA mutations and psychiatric disorders. Case presentation. We report the case of a Tunisian 28-year-old male diagnosed with maternally inherited Leigh syndrome. He presented anxiety and auditory hallucinations, and he reported a vague, unsystematized delusion evolving since 6 months. Significant remission was observed at risperidone 3 mg/day. Discussion. The normality of explorations in our case raised the issue of the link between the two diseases, supporting the hypothesis that mitochondrial dysfunction maybe the primary origin of psychotic disorders.
Conclusion:
The aim of our work is to study the relations between mitochondrial dysfunction and psychiatric symptoms. Further study of mitochondrial dysfunction in psychiatric disorders is expected to be useful for the development of cellular disease markers and new psychotropics.
Case report: Co-occurring obsessive-compulsive disorder and affective psychotic disorder complicated by catatonia in an adolescent female patient
Authors: Wilson To, Crystal Yung, Tyler Voss-Hamrick, Brenner Meacham, Colin Freedman
Journal: Front Psychiatry (2023)
Keywords: affective psychotic disorders, case report, catatonia, child and adolescent psychiatry, obsessive-compulsive disorder, pediatric catatonia, psychosis
MeSH terms: Case Reports

We present the case of a 16-year-old female patient who experienced the loss of her mother to suicide, leading to post-traumatic stress disorder and prominent mood symptoms. She developed catatonic features during her inpatient psychiatric hospitalization following her own suicide attempt. Over her hospital course, she began to demonstrate signs of co-occurring obsessive-compulsive disorder (OCD) and affective psychotic disorder obfuscated by the severity of her catatonia. After initial workup including neurologic evaluation, laboratory tests, imaging (EEG, MRI), the patient was stabilized on a combination of benzodiazepines, antipsychotics, mood stabilizers, and selective serotonin reuptake inhibitors. The diagnostic challenges of disambiguating multiple concurrent diagnoses in the presence of a syndrome with unclear pathophysiology are discussed. Recommendations are made to thoroughly evaluate thought content during periods of catatonic remission to guide diagnosis and treatment.
A Case of Visceral Leishmaniasis in a 4-Year-Old Child Living in Nonendemic Area Located in Suburbs of Dakar, Senegal
Authors: Magatte Ndiaye, Dienaba Fafa Cissé, Aicha Djigal, Aminata Sow, Souléye Lélo, Fatoumata Ly, Isaac A Manga, Mame Ami Diouf, Doudou Sow, Oumar Gaye, Boubacar Camara, Babacar Faye
Journal: Case Rep Infect Dis (2023)
MeSH terms: Case Reports

Visceral leishmaniasis (VL) is an infectious disease caused by protozoa of the genus Leishmania. Sporadic cases are observed in nonendemic areas and often associated with limited foci; therefore, the disease is easily overlooked. In addition, other diseases have similar clinical symptoms, which make it difficult for clinicians to make an accurate diagnosis and to provide effective treatment. We identified visceral leishmaniasis in a 4-year-old child in Pikine, Senegal. The patient was admitted to the Pikine National Teaching Hospital for haemorrhagic, tumoral, and infectious syndromes. At admission, the patient presented with epistaxis and gingivorrhagia, a severe anaemic syndrome poorly tolerated, a systemic inflammatory response syndrome with fever at 39.5°C, a tumoral syndrome with 11 cm of hepatomegaly and 12 cm of type IV splenomegaly, and noninflammatory macropoly adenopathies. A spinal cord puncture was performed, and direct microscopy examination of the sample after GIEMSA staining revealed amastigote forms of Leishmania. The PCR amplification of extracted DNA from the bone marrow aspiration using specific primers for VL (forward and reverse) confirmed that VL was responsible for the infection. A treatment with meglumine antimoniate (Glucantime) was given and it gave a successful outcome with remission of clinical symptoms and favourable evolution with 3 months hindsight. Conclusion. This visceral leishmaniasis case diagnosis in Senegal has shown that, apart from haematological malignancies, this disease must be considered in combination with a tumor syndrome, haemorrhagic syndrome, and infectious syndrome.
INTRATHECAL BACLOFEN FOR NEUROFIBROMATOSIS RELATED SPINAL CORD INJURY WITH SPASTICITY - A CASE REPORT
Authors: Carl O'Brien, Jacqui Stowe, Michael O'Connor, Jacinta Morgan, Paul Murphy, Darren Roddy, Kirk Levins
Journal: J Rehabil Med Clin Commun (2024)
Keywords: intrathecal baclofen, neurofibromatosis 1, spasticity, spinal cord injury
MeSH terms: Case Reports

This case presents a 35-year-old male with spinal predominant neurofibromatosis-1 who developed an incomplete spinal cord injury (C3 Asia C) which did not improve despite urgent decompressive surgery for multiple cervical neurofibromas. This report outlines a novel indication for intrathecal baclofen. The patient suffered from lower limb weakness with severe spasticity and required assistance of at least two for all activities. The aim of rehabilitation was to improve overall tone while focusing on independence, mobility and quality of life. After a successful trial of intrathecal baclofen, he underwent implantation of an intrathecal baclofen pump. The dose was gradually increased while he received a progressive programme of stretching and functional rehabilitation therapy. After 6 weeks, his MAS had improved to 1-2/4 and he had progressed to independent transfers, independence for most activities of daily living and was able to discharge to his family home with minimal support.
Unilateral Hypertrophy of the Tensor Fascia Lata
Authors: Carla Pereira, Aman Toukouki, William Kurth
Journal: J Belg Soc Radiol (2024)
Keywords: mri, tensor fascia lata, gluteus tendinopathy, ultrasound
MeSH terms: Case Reports

A 57-year-old woman presented with right hip pain. The initial diagnosis was an inflammatory tendinopathy of the gluteus medius without signs of rupture, and the patient underwent an ultrasound-guided corticosteroid injection. However, 1 month later, she presented with a painful swelling on the anterior-external aspect of the right hip/thigh, with a clinical suspicion of malignancy. Magnetic resonance imaging (MRI) scan and ultrasound confirmed the diagnosis of hypertrophy of the tensor fascia lata (TFL) muscle . It is included in the differential diagnosis of soft tissue masses of the anterolateral proximal part of the thigh. The etiology is likely to be associated with gluteal muscle dysfunction. Teaching point: Unilateral hypertrophy of the fascia lata consists of an association with hypertrophy of the tensor fascia lata muscle and pathology of the minimus and medius gluteus muscles.
Two cases of AMeD syndrome with isochromosome 1q treated with allogeneic stem cell transplantation
Authors: Mari Kagajo, Kyoko Moritani, Mayumi Iwamoto, Machiko Miyamoto, Tsuyoshi Imai, Motoharu Hamada, Manabu Wakamatsu, Hideki Muramatsu, Minenori Eguchi-Ishimae, Mariko Eguchi
Journal: Leuk Res Rep (2024)
Keywords: amed syndrome, hematopoietic stem cell transplantation, inherited bone marrow failure, isochromosome 1q
MeSH terms: Case Reports

AMeD syndrome is characterized by aplastic anemia, mental retardation, short stature, and microcephaly and is caused by digenic mutations in the aldehyde dehydrogenase 2 (ALDH2) and alcohol dehydrogenase 5 (ADH5) genes. We have successfully performed hematopoietic stem cell transplantation in two patients with AMeD syndrome and isochromosome 1q. AMeD syndrome with myelodysplastic syndrome or acute myeloblastic leukemia generally has a poor prognosis; however, early diagnosis may improve treatment response. Although the gain of 1q has been considered as a form of early clonal evolution in Fanconi anemia, it may be an equally important finding observed in AMeD syndrome.
Imaging Features of Biliary Adenofibroma With Malignant Transformation: A Case Report and Literature Review
Authors: Yuanyuan Zhang, Qingqing Chen, Yue Shi, Fang Wang, Hongjie Hu
Journal: Cureus (2024)
Keywords: biliary adenofibroma, case report, diagnosis, imaging features, malignant transformation
MeSH terms: Case Reports

Biliary adenofibroma (BAF) is a rare benign tumor, but it has the potential for malignant transformation. The differentiation between benign and malignant forms of BAF before surgery is of great importance for clinical decision-making. We report a case of BAF with invasive carcinoma. The patient did not present any clinical symptoms but had a history of hepatitis B virus infection for more than twenty years. Magnetic resonance imaging (MRI) revealed a solid and cystic 4 cm mass in segment II of the liver exhibiting hypointense signals on T1-weighted images and intermediate-to-high intensity signals on T2-weighted images. Enhancement scanning revealed markedly rim-like enhancement on the arterial phase, with the left inter-hepatic artery as the tumor-feeding artery, and wash-out on the venous and delayed phases. To the best of our knowledge, BAF with invasive carcinoma is uncommon. Preoperative qualitative diagnosis based on imaging features can achieve the maximum benefit for patients.
Multiple myeloma following bone metastasis of renal cell carcinoma: a case report
Authors: Hong Yu, Shengnan Zhang, Xiaohui Feng, Feng Gao
Journal: Front Endocrinol (Lausanne) (2023)
Keywords: bone metastatic tumor, computed tomography, diffusion weighted imaging, magnetic resonance imaging, myeloma, pathology
MeSH terms: Bone Neoplasms / complications, Bone Neoplasms / diagnostic imaging, Bone Neoplasms / therapy, Carcinoma, Renal Cell / complications, Carcinoma, Renal Cell / diagnostic imaging, Carcinoma, Renal Cell / therapy, Kidney Neoplasms / complications, Kidney Neoplasms / diagnostic imaging, Kidney Neoplasms / therapy, Multiple Myeloma / complications, Multiple Myeloma / diagnostic imaging, Multiple Myeloma / therapy, Case Reports, Bone Marrow / pathology, Humans, Male

Background:
The clinical manifestations of multiple myeloma (MM) and bone metastatic tumor are both systemic bone pain, which is difficult to distinguish from imaging manifestations, leading to misdiagnosis and missed diagnosis.
Case summary:
We reported a man with a unique case whose tumors were MM with bone metastatic tumor of clear cell renal cell carcinoma (CCRCC). Computed tomography (CT) showed multifocal osteolytic bone destruction, while magnetic resonance imaging (MRI) showed multifocal bone marrow infiltration with soft tissue mass. Pathology and immunohistochemistry established the diagnosis of the coexistence of myeloma with bone metastatic tumor of CCRCC in the spine. Immunotherapy and systemic chemotherapy were adopted in the clinic, and vertebral decompression was performed after anemia was corrected. This case with MM and bone metastatic tumor of CCRCC received radiotherapy and immunotherapy and acquired satisfying outcome after 1 year of follow-up.
Conclusion:
It is difficult to differentiate MM and bone metastatic tumor on imaging, especially when there are bone lesions at the same time, which is an easily missed diagnosis and needs to be comprehensively evaluated in combination with functional procedures, clinical laboratory tests, and histopathology.
A case of mediastinal hyperparathyromatosis
Authors: Chloe Spillane, Gavin Calpin, Sneha Singh, Kasie O'Reilly, Cian Hehir, Arnold Hill, Colm Magee, Helen Barrett
Journal: J Surg Case Rep (2024)
Keywords: ectopic parathyroid, hyperparathyromatosis, mediastinal parathyroid nodule, parathyromatosis, recurrent hyperparathyroidism
MeSH terms: Case Reports

Recurrent hyperparathyroidism (HPT) after initial parathyroid surgery occurs rarely in an ectopic location. The rare phenomenon of parathyromatosis may be the cause of this. We present the case of a 59-year-old woman with recurrent HPT, which presented as a new ectopic mediastinal parathyroid gland 13 years after initial 3.5 gland parathyroidectomy. A 1.5 × 1.3 cm lesion was discovered as an incidental finding in the pretracheal region, closely abutting the aortic arch. An aspirate revealed oncocytic cells, which were positive for parathyroid hormone, confirming a mediastinal parathyroid nodule. Sestamibi scan confirmed an avid nodule in the mediastinum. This patient had multiple co-morbidities but was asymptomatic of HPT. It was therefore decided at multi-disciplinary team discussion that she should undergo surveillance. To our knowledge, no such presentations have been reported in the literature. Thus, our case report is a unique addition of an atypical presentation of HPT.
A case report on digital preoperative design, clinical application and finite element analysis for a patient with ankylosing spondylitis kyphosis
Authors: Lei Zhu, Chi Zhang, Li Peng, Zifei Cheng, Xiuwen Liang
Journal: Front Bioeng Biotechnol (2023)
Keywords: as-related kyphosis, ankylosing spondylitis, digital model, finite element analysis, protrusion deformity surgery simulation

Objective: By assessing a case of ankylosing spondylitis (AS) after thoracic lumbar protrusion deformity in a digital model and verifying its effectiveness after surgery for orthopaedic surgery process simulation, a finite element model was established for biomechanical experiments. Method: A 56-year-old patient with AS underwent preoperative thoracic lumbar spine computed tomography. The data were reconstructed using MIMICS16.0 software and modelled to design and measure the nailing parameters. A three-dimensional model was established using ANSYS14.0 software, and the actual surgical procedure was simulated using biomechanical experiments. The model was verified by comparing the X-ray films obtained from patients during preoperative forward bending, stretching and lateral flexion, with the model further tested using the Hueter-Volkmann principle. Result: On comparing the measurements across three different load cases (forward bending, after stretching and lateral flexion) in patients with AS after thoracic lumbar protrusion deformity and the original X-ray images, no difference was found between the model of deformation and real patient movement displacement across the vertebral body. On simulating the stress distribution, the measured T10-L4 vertebral body stress values at every point in the injured vertebrae were, on the whole, directed at both the upper and lower ends and exhibited a decreasing trend, and the stress distribution gradually decreased from the injured vertebrae (T12 and L1) to the upper and lower ends. Conclusion: The accuracy of the research model is high, the geometric similarity is good and relevant applied anatomy can be undertaken using the model parameter measurement. This study provides a successful example of the application of digital technology in the field of spinal deformity and a novel idea for the treatment of AS-related kyphosis.
A Pregnant Woman with Excess Vasopressinase-Induced Diabetes Insipidus Complicated by Central Diabetes Insipidus like Lymphocytic Infundibulo-Neurohypophysitis
Authors: Shinnosuke Yanagisawa, Yoichi Oikawa, Mai Endo, Kazuyuki Inoue, Ritsuko Nakajima, Shigemitsu Yasuda, Masayasu Sato, Naoko Iwata, Haruki Fujisawa, Atsushi Suzuki, Yoshihisa Sugimura, Masashi Isshiki, Akira Shimada
Journal: Case Rep Endocrinol (2024)
MeSH terms: Case Reports

Background:
Gestational diabetes insipidus (DI) is a very rare complication of pregnancy. We present a case of gestational DI combining two different types of DI. Case Presentation. A 39-year-old pregnant woman suddenly presented with thirst, polydipsia, and polyuria after 31 gestation weeks (GWs). Based on laboratory findings of hypotonic urine (78 mOsm/kgH2O) with higher plasma osmolality (298 mOsm/kgH2O) and higher serum sodium levels (149 mEq/L), gestational DI was suspected, and the clinical course was monitored without therapy until the results of a measurement of plasma arginine vasopressin (AVP) levels were available. However, she subsequently developed acute prerenal failure and underwent an emergency cesarean section at 34 GWs. Her resected placenta weighed 920 g, nearly twice the normal weight. Immediately following delivery, intranasal 1-desamino-8-D-arginine vasopressin was administered, and her symptoms promptly disappeared. Afterward, her predelivery plasma AVP level was found to have been inappropriately low (0.7 pg/mL) given her serum sodium level. The patient's serum vasopressinase level just before delivery was 2,855 ng/mL, more than 1,000 times the upper limit of the normal range, suggesting excess vasopressinase-induced DI. The presence of anti-rabphilin-3A antibodies in the patient's blood, a hypertonic saline infusion test result, and loss of the high-intensity signal of the posterior pituitary on fat-suppressed T1-weighted magnetic resonance images without thickening of the stalk and enlargement of the neurohypophysis suggested concurrent central DI-like lymphocytic infundibulo-neurohypophysitis (LINH).
Conclusion:
In addition to the degradation of AVP by excess placental vasopressinase due to the enlarged placenta, an insufficient compensatory increase in AVP secretion from the posterior pituitary gland due to LINH-like pathogenesis might have led to DI symptoms.
Patellar Tendon Rupture 12 Years after ACL Reconstruction with BPTB Autograft
Authors: Christopher C Paiz, Dustin L Richter
Journal: Case Rep Orthop (2023)
MeSH terms: Case Reports

We present a case of a 33-year-old male with a history of anterior cruciate ligament reconstruction (ACLR) with bone-patellar tendon-bone (BPTB) autograft and prior ipsilateral hamstring harvest, who presented with a complete patella tendon rupture (PTR) 12 years after ACLR. The patient underwent a successful patellar tendon (PT) repair augmented with Achilles tendon allograft and cerclage with nonabsorbable suture tape. PTR after ACLR with BPTB autograft is rare, particularly in patients over a decade out from the index procedure, but can occur. This case report highlights a novel technique for PT repair following BTB ACLR in a hamstring deficient knee.