OpenMed/multicare-articles huggingface dataset:
Management Challenges of Metastatic Spinal Cord Compression in Pregnancy
Authors: Davor Dasic, Narendra K Rath, Mario Ganau, Zaid Sarsam
Journal: Case Rep Surg (2020)
MeSH terms: Case Reports

Primary and secondary spinal tumours with cord compression often represent a challenging condition for the patient and clinicians alike, even more so during pregnancy. The balance between safe delivery of a healthy baby and management of the mother's disease bears many clinical, psychological, and ethical dilemmas. Pregnancy sets a conflict between the optimal surgical and oncological managements of the mother's tumour and the well-being of her foetus. We followed the CARE guidelines from the EQUATOR Network to report an exemplificative case of a 39-year-old woman with a 10-year history of breast cancer, presenting in the second trimester of her first pregnancy with acute onset severe thoracic spinal instability, causing mechanical pain and weakness in lower limbs. Neuroradiological investigations revealed multilevel spinal deposits with a pathological T10 fracture responsible for spinal cord compression. The patient was adamant that she wanted a continuation of the pregnancy and her baby delivered. After discussion with her oncologist and obstetrician, we agreed to perform emergency spinal surgery-decompression and instrumented fixation. The literature search did not reveal a similar case of spinal metastatic breast cancer undergoing spinal instrumentation and delivery of a healthy baby a few months later. Following the delivery, the patient had further oncological treatment, including chemotherapy and radiotherapy. The paucity of such reports prompted us to present this case and highlight the relevance of a multidisciplinary approach involving obstetrician, oncologist, spinal surgeon, and radiologist to guide the optimal decision-making process.
Olanzapine-induced Priapism in a Child with Asperger's Syndrome
Authors: Hasan Bozkurt, Serkan Şahin
Journal: Balkan Med J (2017)
Keywords: asperger’s syndrome, priapism, children, olanzapine
MeSH terms: Attention Deficit Disorder with Hyperactivity / drug therapy, Benzodiazepines / adverse effects, Priapism / etiology, Antipsychotic Agents / adverse effects, Antipsychotic Agents / therapeutic use, Asperger Syndrome / complications, Asperger Syndrome / drug therapy, Benzodiazepines / therapeutic use, Child, Humans, Male, Olanzapine, Antipsychotic Agents, Benzodiazepines, Olanzapine

Background:
Priapism is a potentially painful and prolonged erection that occurs in the absence of any stimulation. Olanzapine has been reported to induce priapism in several adult cases with schizophrenia and/or mood disorders but very rarely reported in children.
Case report:
9-year-old male with Asperger's Syndrome (AS) referred to our clinic with the complaints of inattention, hyperactivity and impulsivity. He was diagnosed with attention deficit hyperactivity disorder (ADHD) and given methylphenidate treatment which ameliorated his ADHD symptoms. He started to have severe loss of appetite after methylphenidate treatment so olanzapine 2.5 mg/day was added to cope with severe inappetence. However he experienced priapism after olanzapine and priapism resolved after ceasing the drug. His mother restarted olanzapine because he benefited from olanzapine. But the same episodes occurred soon after olanzapine again and his mother had to stop the medication.
Conclusion:
Because atypical antipsychotics are now widely used in children, unusual side effects such as priapism should be taken into consideration for the differential diagnosis.
An atraumatic femoral fracture in a patient with rheumatoid arthritis and osteoporosis treated with denosumab
Authors: J Villiers, D W Clark, T Jeswani, S Webster, A L Hepburn
Journal: Case Rep Rheumatol (2013)

Osteoporosis is responsible for a significant burden both individually and socially, but is readily treated with antiresorptive agents and mineral supplementation. However, long-term usage of these agents, notably bisphosphonates, is rarely associated with atypical fractures. Denosumab is a monoclonal antibody that reduces osteoclast activity and thus increases bone mineral density. In this case report, we present a 78-year-old woman with a background of rheumatoid arthritis and osteoporosis who presented with an atypical diaphyseal femoral fracture.
Congenital Partial Absence of Pericardium: A Mimic of Arrhythmogenic Right Ventricular Cardiomyopathy
Authors: J S Foo, C H Koh, A Sahlén, H C Tang, C P Lim
Journal: Case Rep Med (2018)
MeSH terms: Case Reports

Congenital absence of pericardium is a rare condition with electrocardiogram, chest X-ray, and echocardiographic findings which may mimic those of other cardiac conditions. We present a case of a 19-year-old asymptomatic female with incidental cardiomegaly on chest X-ray and electrocardiographic and echocardiographic changes, which meet the revised task force criteria for definite arrhythmogenic right ventricular cardiomyopathy but subsequently confirmed to have congenital partial absence of pericardium on cardiac magnetic resonance imaging.
Simultaneous robotic low anterior resection and prostatectomy for adenocarcinoma of rectum and prostate: initial case report
Authors: Myungchan Park, Seong Cheol Kim, Jae-Seung Chung, Sang Hyun Park, Seok San Park, Sung Jin Oh, Donghoon Lee, Koon Ho Rha, Cheol Kyu Oh
Journal: Springerplus (2016)

Background:
We report a case of synchronous rectal and prostate cancer treated successfully with simultaneous da Vinci robotic-assisted low anterior resection of the rectum and robotic-assisted laparoscopic radical prostatectomy to address both cancers.
Case presentation:
Recently, minimally invasive surgical techniques using da Vinci robot® system (Intuitive Surgical, Sunnyvale, USA) were introduced as curative surgical modality of prostate and rectal malignancies. Herein, we report an initial case of simultaneous robotic low anterior resection and robotic prostatectomy for adenocarcinoma of rectum and prostate sharing a considerable number of port sites.
Conclusion:
Simultaneous robotic-assisted low anterior resection could be performed with robotic-assisted radical prostatectomy safely and effectively in synchronous rectal and prostate cancer.
Rare Differential Diagnosis of Dyspnea: Extramedullary Plasmocytoma (EMP) of the Larynx-Case Report and Review of the Latest Literature of Laryngeal EMP and Laryngeal Involvement of Multiple Myeloma
Authors: Kim Vanessa Steinke, Barbara Karoline Schneider, Hans Jürgen Welkoborsky
Journal: Case Rep Otolaryngol (2019)
MeSH terms: Case Reports

Multiple myeloma (MM) of the larynx is extremely rare. It can be either a laryngeal manifestation of a general multiple myeloma or it can occur as a primary laryngeal mass, which is then called extramedullary plasmocytoma (EMP). We present the case of an 81-year-old male patient who was admitted for dyspnea. He had a history of multiple myeloma but was in complete remission since some years. Histological and immunohistological examination of tissue samples revealed an EMP. The patient was first treated by laser surgery in order to reduce the tumor mass and secure the airway. Afterwards, he was systematically treated by radiation therapy with 60 Gy, which achieved a good response and complete remission proven by control laryngoscopy and histological examination of tissue samples taken from the former tumor area three months after laser excision. The latest literature in the field is reviewed. There were only ten cases of EMP in the larynx or laryngeal involvement of MM published within the last five years (Pubmed was searched for "larynx," "laryngeal" and "EMP," "Extramedullary Myeloma," "Multiple Myeloma," and "MM"). Due to its rarity, there are currently no evidence-based therapeutic guidelines available. For their development, multicenter studies are required.
Gritty sensation on catheter: a new clinical sign for self-diagnosis of stone formation in the continent urinary pouch
Authors: Apul Goel, Anuj Goel, Diwakar Dalela, S N Sankhwar
Journal: Indian J Urol (2010)
Keywords: bladder substitution, continent cutaneous pouch, self-catheterization, stone
MeSH terms: Case Reports

With more experience and better management, the incidence of complications like stone formation after continent urinary diversion is uncommon today. We report a case of large stone bulk in a patient who underwent this surgery 10 years back and who suggested the formation of stones in the pouch herself by sounding them. Proper counseling, regular pouch irrigation and follow-up are essential in any kind of diversion.
Management of single-rooted maxillary central incisor with two canals: a case report
Authors: Anantanarayanan Krishnamurti, Natanasabapathy Velmurugan, Suresh Nandini
Journal: Iran Endod J (2012)
Keywords: maxillary central incisor, root canal, root resorption, tooth root
MeSH terms: Case Reports

The aim of this study was to report the endodontic management of right maxillary central incisor having two canals with type IV Vertucci canal configuration. Internal morphology of root canals is variable and often complex. Therefore, to achieve a technically satisfactory endodontic outcome, the clinician must have adequate knowledge of the internal canal morphology and its variations in order to debride and obturate the root canal system thoroughly.
Case Report: Challenges of Non-Invasive Prenatal Testing (NIPT): A Case Report of Confined Placental Mosaicism and Clinical Considerations
Authors: Giulia Bonanni, Valentina Trevisan, Marcella Zollino, Marco De Santis, Federica Romanzi, Antonio Lanzone, Elisa Bevilacqua
Journal: Front Genet (2022)
Keywords: nipt, aneuploidies, cfdna, confined placental mosaicism, prenatal diagnosis
MeSH terms: Case Reports

Since the introduction of cell-free (cf) DNA analysis, Non-Invasive Prenatal Testing (NIPT) underwent a deep revolution. Pregnancies at high risk for common fetal aneuploidies can now be easily identified through the analysis of chromosome-derived components found in maternal circulation, with the highest sensitivity and specificity currently available. Consequently, the last decade has witnessed a widespread growth in cfDNA-based NIPT use, enough to be often considered an alternative method to other screening modalities. Nevertheless, the use of NIPT in clinical practice is still not devoid of discordant results. Hereby, we report a case of confined placental mosaicism (CPM) in which a NIPT false-positive result for trisomy 13 required not only amniocentesis but also cordocentesis, to rule out the fetal aneuploidy, with the additional support of molecular cytogenetics on placental DNA at delivery. Relevant aspects allowing for precision genetic diagnosis and counselling, including the number of analysed metaphases on the different fetal cells compartments and a repeated multidisciplinary evaluation, are discussed.
Primary renal synovial sarcoma
Authors: Mehmet Gulum, Ercan Yeni, Murat Savas, Ilyas Ozardali, Ismail Ozdemir, Dilek Mil, Adem Altunkol, Halil Ciftci
Journal: Case Rep Urol (2011)
MeSH terms: Case Reports

Synovial sarcomas are generally deep-seated tumors that most often occur in the proximity of large joints of adolescents and young adults. We describe two cases of primary renal synovial sarcoma that were treated successfully by radical nephrectomy. Synovial sarcoma originating from the kidney is extremely rare and the histogenesis is uncertain. Surgical resection and ifosfamide based chemotherapy are the mainstay for the management of renal synovial sarcoma. Fewer than 40 patients have been described in the English literature. Physicians should be aware of the possibility of malignancy in cystic renal masses and raise the suspicion of synovial sarcoma, especially when patients with renal masses are a young adult.
Two Unique Cases of X-linked SCID: A Diagnostic Challenge in the Era of Newborn Screening
Authors: Pooja Purswani, Cristina Adelia Meehan, Hye Sun Kuehn, Yenhui Chang, Joseph F Dasso, Anna K Meyer, Boglarka Ujhazi, Krisztian Csomos, David Lindsay, Taylor Alberdi, Sonia Joychan, Jessica Trotter, Carla Duff, Maryssa Ellison, Jack Bleesing, Attila Kumanovics, Anne M Comeau, Jaime E Hale, Luigi D Notarangelo, Troy R Torgersen, Hans D Ochs, Panida Sriaroon, Benjamin Oshrine, Aleksandra Petrovic, Sergio D Rosenzweig, Jennifer W Leiding, Jolan E Walter
Journal: Front Pediatr (2019)
Keywords: x-linked severe combined immunodeficiency (scid), functional assays, gamma chain signaling, interleukin 2 receptor gamma (il2rg), maternal x-inactivation studies, newborn screening
MeSH terms: Case Reports

In the era of newborn screening (NBS) for severe combined immunodeficiency (SCID) and the possibility of gene therapy (GT), it is important to link SCID phenotype to the underlying genetic disease. In western countries, X-linked interleukin 2 receptor gamma chain (IL2RG) and adenosine deaminase (ADA) deficiency SCID are two of the most common types of SCID and can be treated by GT. As a challenge, both IL2RG and ADA genes are highly polymorphic and a gene-based diagnosis may be difficult if the variant is of unknown significance or if it is located in non-coding areas of the genes that are not routinely evaluated with exon-based genetic testing (e.g., introns, promoters, and the 5'and 3' untranslated regions). Therefore, it is important to extend evaluation to non-coding areas of a SCID gene if the exon-based sequencing is inconclusive and there is strong suspicion that a variant in that gene is the cause for disease. Functional studies are often required in these cases to confirm a pathogenic variant. We present here two unique examples of X-linked SCID with variable immune phenotypes, where IL2R gamma chain expression was detected and no pathogenic variant was identified on initial genetic testing. Pathogenic IL2RG variants were subsequently confirmed by functional assay of gamma chain signaling and maternal X-inactivation studies. We propose that such tests can facilitate confirmation of suspected cases of X-linked SCID in newborns when initial genetic testing is inconclusive. Early identification of pathogenic IL2RG variants is especially important to ensure eligibility for gene therapy.
Restless legs syndrome presenting as an acute exacerbation of multiple sclerosis
Authors: James H Bernheimer
Journal: Mult Scler Int (2011)
MeSH terms: Case Reports

Restless legs syndrome is common in patients with multiple sclerosis but has not been reported as occurring due to an acute, inflammatory, demyelinating attack. Restless legs syndrome is known to be related to low brain iron levels. Multiple sclerosis has been associated with the abnormal accumulation of iron in the chronic, progressive phase of axonal degeneration. Iron deficiency may play a role in demyelination. This suggests that restless legs syndrome may be caused by the inflammatory, demyelinating component of multiple sclerosis rather than axonal degeneration. The author presents a case of self-limited restless legs syndrome occurring as an acute attack of multiple sclerosis, supporting the notion that inflammatory demyelination is the underlying pathophysiology of restless legs syndrome in multiple sclerosis.
Unusual cause of appendicitis. A case report of acute appendicitis caused by needle ingestion
Authors: Francisco Tustumi, Guilherme Garcia Hudari, Natalia Rebeque Modolo, André Luiz Gioia Morrell, Antônio Afonso de Miranda Neto, André Roncon Dias
Journal: Int J Surg Case Rep (2020)
Keywords: appendectomy, appendicitis, ingested foreign body
MeSH terms: Case Reports

Introduction:
Appendicitis is an acute inflammatory process. The purpose of this report is to describe an unusual case of acute appendicitis in adult caused by accidental ingestion of a needle, and treated with appendectomy.
Presentation of case:
A 64 year-old white woman, seamstress, was admitted with abdominal pain complaints. Plain radiograph and CT scan showed metal density suggesting a foreign body in the lower right abdomen. A diagnostic laparoscopic procedure identified a perforated appendicitis due to a needle perforation. Laparoscopic appendicectomy and foreign body removal were performed.
Discussion:
Acute appendicitis due foreign body ingestion is extremely rare. Laparoscopy was the chosen access once it was more suitable for inventory of the gastrointestinal tract and help avoiding harm of the medical team during hand maneuvers of open access surgery.
Conclusion:
Foreign body ingestion should be remembered as an unusual differential diagnosis of acute appendicitis.
Drug-Induced IgA Vasculitis in an Adult
Authors: Miranda Yousif, Neil H Vigil, Reem Haddad
Journal: Cureus (2023)
Keywords: adverse drug event, cutaneous vasculitis, drug-related adverse event, iga vasculitis, small-vessel vasculitis, use of antibiotic
MeSH terms: Case Reports

A 65-year-old man developed palpable purpuric papules and plaques on his lower extremities, which quickly spread to his trunk and upper extremity after being prescribed cephalexin and doxycycline in the emergency room. Here, we define the details of a textbook-like presentation of IgA vasculitis, formerly referred to as Henoch-Schönlein purpura, in an adult.
Xeroderma Pigmentosum: Ocular Findings in an Isolated Brazilian Group with an Identified Genetic Cluster
Authors: Maria Claudia Schelini, Luis Fernando O B Chaves, Marcia C Toledo, Francisco W Rodrigues, Tauan de Oliveira, David L C Isaac, Marcos Avila
Journal: J Ophthalmol (2019)

Purpose:
Xeroderma pigmentosum (XP) is a rare autosomal recessive genetic disorder characterized by increased susceptibility to UV radiation- (UVR-) induced skin pigmentation, skin cancers, ocular surface disease, and, in some patients, sunburn and neurological degeneration. Eight different genes are affected, and the prevalence of the disease differs across the world. The present study describes the main ophthalmologic features and symptoms in patients with XP in this case series.
Methods:
Patients were examined consecutively at the University Hospital of the Federal University of Goias between January 2016 and June 2018. All patients underwent ophthalmologic examination and were asked about their ophthalmological history and the presence of ocular symptoms.
Results:
Twenty-one patients with genetic confirmation were evaluated. The genetic variants XPV and XPC were detected in the patients. The most prevalent findings include eyelid changes, observed in 80.9% of the patients, and ocular surface changes as punctate keratopathy, occurring in 16 patients (76.2%), corneal neovascularization, and corneal opacities. Six patients (28.5%) presented corneoconjunctival tumor. More than half of patients had previous history of treatment of ocular neoplasia. Ocular burning was the most reported symptom.
Conclusions:
The ocular characteristics identified in this study corroborate the existing literature, mainly related to the surface. Concerning the XP variant and the gravity of ocular signs, XPC has earlier and more severe symptoms than XPV. Due to their relative rarity, publications of XP cases are important to understand the possible damages caused by the disease in the eyes and surrounding area.
Bilateral quadriceps tendon rupture as the presenting manifestation of chronic kidney disease
Authors: N A Wani, H A Malla, T Kosar, I M Dar
Journal: Indian J Nephrol (2011)
Keywords: chronic renal disease, hyperparathyroidism, magnetic resonance imaging, quadriceps tendon rupture
MeSH terms: Case Reports

Bilateral painful knees with loss of extension in a patient with chronic kidney disease (CKD) may be due to spontaneous quadriceps tendon rupture. This rare complication is usually seen in patients on long term dialysis. We present a case of bilateral spontaneous quadriceps tendon rupture demonstrated by magnetic resonance imaging in a 20-year-old woman who on evaluation was found to have CKD.
Bilateral Retrobulbar Optic Neuritis as the First Manifestation of Neuro-Behçet Disease
Authors: Mohsen Jari, Taiiebeh Mohammadi, Ensiyeh Taheri
Journal: Case Rep Rheumatol (2020)
MeSH terms: Case Reports

Background:
Behçet disease (BD) is a polygenic and chronic autoinflammatory multisystem vasculitis. Acute optic neuritis has been rarely reported in patients with BD, especially in children. Case Presentation. We reported an 8-year-old girl with a sudden visual loss and color vision impairment. The patient had a history of recurrent oral aphthous ulcers, genital ulcers, and chronic abdominal pain. On ophthalmic examination, anterior and posterior chambers and funduscopy of both eyes were normal. The results of laboratory tests for infectious and rheumatic diseases were normal. Brain magnetic resonance imaging and the result of cerebrospinal fluid analysis for oligoclonal bands and auto-antibodies were also normal. Pathergy skin test and human leukocyte antigens (HLA) B5 and HLA-B51 were positive. The patient was recognized as a case of BD-related bilateral retrobulbar optic neuritis and was treated by corticosteroids, azathioprine, colchicine, and infliximab.
Conclusion:
Retrobulbar optic neuritis may be the first manifestation of neuro-BD.
Deanxit and tandospirone relieved unexplained limb edema in a depressed pituitary adenoma survivor: A case report
Authors: Xingyu Dong, Sheng Fang, Wei Li, Xuemei Li, Sunfu Zhang
Journal: Front Psychiatry (2022)
Keywords: deanxit and tandospirone, antidepressant, limbs edema, major depressive disorder, somatic symptoms
MeSH terms: Case Reports

Our case report describes a 45-year-old woman who suffered from limb edema for 2 months. We focused on tumor recurrence and other common potential diseases based on the pituitary adenoma history. However, none of the examinations showed any abnormality. Later, her continuous complaints about the family relationship and depressed mood came into sight, and a psychiatry consultation was arranged. Following that, she was diagnosed with major depressive disorder. After several days of Deanxit and tandospirone treatment, the patient's limb edema dramatically subsided. This is the first case of limb edema associated with depression. This highlights the importance of awareness of mental illness for non-psychiatrists, especially in patients with severe somatic symptoms, but with negative results.
Lesion in Scalp and Skull as the First Manifestation of Hepatocellular Carcinoma
Authors: V R Ferraz, J L Vitorino-Araújo, L Sementilli, J F Neto, J C E Veiga
Journal: Case Rep Neurol Med (2016)

Hepatocellular carcinoma (HCC) is the most common primary tumor of the liver and the fifth most common cancer in the world. The lungs, bone, and lymph nodes are frequent sites of metastasis of HCC. The purpose of the present study is show that metastases, although rare, must be among the differential diagnosis of skin lesions and that a diagnostic research based on these findings can be conducted. The authors report a rare case of metastatic hepatocellular injury to the scalp and skull treated by a radical surgical approach. Excision of the lesion in the scalp was performed "en bloc." The tumor was supplied by the frontal branch of the superficial temporal artery. There are few case reports of metastatic HCC to scalp and skull; treatment of these lesions should be individualized in order to control symptoms, improve quality of life, and promote an increase in survival.
A Case of Atorvastatin-Associated Necrotizing Autoimmune Myopathy, Mimicking Idiopathic Polymyositis
Authors: Ayushi Dixit, Adriana Abrudescu
Journal: Case Rep Rheumatol (2018)
MeSH terms: Case Reports

Statin-induced necrotizing autoimmune myopathy (SINAM) is a rare side effect of statin use which manifests as progressive muscle weakness. Because statins are a widely prescribed medication for coronary artery disease, hyperlipidemia, and many other diseases, many patients are at risk of developing SINAM or one of the many other statin-induced myopathies. Due to identification of an antibody specific to this disease, we were able to diagnose SINAM in a patient whose symptoms had progressed to the extent that they were debilitating. Our case describes SINAM in a patient undergoing treatment with a statin for an extended period of time, diagnosis of the disease process, treatment, and resolution of symptoms.