OpenMed/multicare-articles huggingface dataset:
Rare Tumors Presenting as a Mastoid Mass
Authors: Jiyeon Lee, Kyujin Han, Chang-Hee Kim
Journal: Case Rep Otolaryngol (2020)
MeSH terms: Case Reports

In terms of diagnosis, a painless isolated mass lesion around the mastoid area is rarely encountered in general practice. In the present study, we report two cases of painless benign mastoid tumors located in the postauricular region. The first patient visited our department with a painless progressing mass lesion behind the right ear, which was later revealed as an intramuscular lipoma in the mastoid origin site of the sternocleidomastoid muscle. The second patient similarly presented to our department with a chief complaint of a painless, palpable mass in the mastoid region. Biopsy results confirmed the diagnosis of an osteoma. In both cases, the tumor was surgically removed by a postauricular approach. Although osteoma and lipoma are benign tumors rarely involved in the mastoid area, presenting without symptoms, it is recommended of complete excision, especially in cases with symptoms or cosmetic deformity.
Intravitreal tPA Injection and Pneumatic Displacement for Submacular Hemorrhage in a 10-Year-Old Child
Authors: Takayuki Tsuyama, Hiroshi Hirose, Tomohiro Hattori
Journal: Case Rep Ophthalmol Med (2016)

Background. Submacular hemorrhage can occur after blunt trauma to the eye. Intravitreal tissue plasminogen activator (tPA) and gas injection are often used for treatment and are effective for submacular hemorrhage caused by age-related macular degeneration. This report describes the clinical outcome in a child with submacular hemorrhage caused by traumatic choroidal rupture who underwent successful intravitreal tPA injection and pneumatic displacement. Case Presentation. A 10-year-old boy developed sudden decrease of vision and a central scotoma in his right eye after trauma. Submacular hemorrhage was found in the eye. Visual acuity was 20/70 OD. Tissue plasminogen activator (12.5 μg in 0.05 mL) and 0.3 mL of pure sulfur hexafluoride were injected into the vitreous cavity under general anesthesia. After surgery, the patient was instructed to maintain a prone position. Displacement of the submacular hemorrhage from the fovea revealed a choroidal rupture, presumed to be the cause of the hemorrhage. After 4 months of follow-up, visual acuity was restored and final visual acuity is 20/16. Conclusion. Intravitreal tPA and gas injection can be an effective treatment for children with submacular hemorrhage.
First Manic Episode Following SARS-CoV-2 Infection
Authors: Bedir Alihsan, Simon Kashfi, Dennis T Roarke
Journal: Cureus (2023)
Keywords: coronavirus, covid 19, covid and mental health, covid-19 mental health, first manic episode, mania, manic episodes, mental health and covid-19, neuropsychiatric, sars-cov-2
MeSH terms: Case Reports

Since the beginning of the COVID-19 pandemic, there have been reports of neuropsychiatric symptoms following infection with the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), most notably mania and psychosis. However, despite the widely reported incidence of psychosis and mania following infection with SARS-CoV-2, a causal link between the virus and these neuropsychiatric symptoms has not been established. A myriad of confounding factors such as underlying psychiatric disorders, personal and family psychiatric histories, substance use, and treatment with steroids all have the ability to obscure a correlation between SARS-CoV-2 and subsequent psychiatric symptoms. Here we present a case of a manic episode in a 40-year-old male following a COVID-19 infection. He had no past psychiatric history, no family psychiatric history, and no history of substance use. This case is unique in that the patient lacks all these typical confounding variables. It should serve as an example of a first-time manic episode following a recent infection with SARS-CoV-2. It may contribute data to future investigations seeking to better elucidate the correlation between SARS-CoV-2 and neuropsychiatric symptoms such as mania.
Case Report: Candidate Genes Associated With Prenatal Ultrasound Anomalies in a Fetus With Prenatally Detected 1q23.3q31.2 Deletion
Authors: Jiahao Song, Qian Zhang, Bing Lu, Zhongshan Gou, Ting Wang, Hui Tang, Jingjing Xiang, Wei Jiang, Xuedong Deng
Journal: Front Genet (2021)
Keywords: chromosomal microarray analysis, fetal growth restriction, kidney, persistent left superior vena cava, ultrasound, unroofed coronary sinus syndrome
MeSH terms: Case Reports

Background: Patients with deletions involving the long arm of chromosome 1 are rare, and the main aim of this study was to refine the genotype-phenotype correlation. Case Report: In this report, a 28-year-old pregnant woman, gravida 2 para 1, at 25+4 weeks of gestation underwent ultrasound examination in our institute. The ultrasonographic findings of the fetus were as follows: (1) fetal growth restriction; (2) cleft lip and palate; (3) bilateral renal hypoplasia; (4) lateral ventriculomegaly; (5) single umbilical artery; (6) absent stomach; (7) coronary sinus dilatation with persistent left superior vena cava, ventricular septal defect and unroofed coronary sinus syndrome. Chromosomal microarray analysis of amniotic fluid from the fetus revealed a 28.025 Mb deletion in 1q23.3q31.2, spanning from position 164,559,675 to 192,584,768 (hg19). Conclusion: Genotype-phenotype correlation might improve prenatal diagnosis of fetuses with chromosome 1q deletion. PBX1 could be a candidate gene for fetal growth restriction, renal hypoplasia and congenital heart disease. Fetal growth restriction was accompanied by decreased renal volume in the fetus. Combined with ultrasonic examination, the application of chromosomal microarray analysis will provide accurate prenatal diagnosis.
Cogan's sign in a patient with suspected post-COVID-19 vaccine-associated myasthenia gravis
Authors: José Wagner Leonel Tavares-Júnior, Manoel Alves Sobreira-Neto, Pedro Braga-Neto
Journal: Rev Soc Bras Med Trop (2023)
MeSH terms: Blepharoptosis / complications, Blepharoptosis / diagnosis, Blepharoptosis / drug therapy, COVID-19 / complications, Myasthenia Gravis / chemically induced, Myasthenia Gravis / complications, Myasthenia Gravis / diagnosis, Case Reports, Aged, COVID-19 Vaccines / adverse effects, Diplopia / complications, Diplopia / drug therapy, Female, Humans, COVID-19 Vaccines

The Cogan's sign is indicative of myasthenia gravis. This is the first report of neurological signs in a patient with post-COVID-19 vaccine-associated myasthenia gravis in Brazil. In this case, a previously healthy 68-year-old woman presented with proximal limb weakness, left ptosis, and diplopia 1 month after receiving her fourth dose of the COVID-19 vaccine. Neurological examination revealed the presence of Cogan's sign, and she recovered rapidly after treatment. To our knowledge, this is the first reported case of myasthenia gravis associated with the COVID-19 vaccine in Brazil.
Fusarium Endophthalmitis, Unusual and Challenging Infection in an Acute Leukemia Patient
Authors: Mehmet Baysal, Elif Umit, İbrahim Bekir Boz, Onur Kırkızlar, Muzaffer Demir
Journal: Case Rep Hematol (2018)
MeSH terms: Case Reports

Invasive fungal infections bring serious mortality and morbidity during the treatment of acute myeloid leukemia. Especially, mold infections are challenging, and each case is unique in feature. These cases are usually fatal, and there is no consensus regarding optimal treatment. AML patients receive antifungal prophylaxis and may further require IFI (invasive fungal infection) treatments, but fusarium mold infections are often unrecognized and could be overlooked. In this case report, we try to emphasize the importance of this infection with a high-risk AML patient.
Case Report: A Case of Acute T Lymphoblastic Leukemia With Mixed Infection of Lethal Invasive Mucormycosis and Multi-Drug Resistant Bacteria
Authors: Qingya Cui, Haiping Dai, Depei Wu, Jun He, Yang Xu, Xiaowen Tang, Jie Xu
Journal: Front Med (Lausanne) (2022)
Keywords: mucor infection, acute t lymphoblastic leukemia, metagenomic next-generation sequencing, multi-drug resistant bacteria, pulmonary mucormycosis
MeSH terms: Case Reports

Pulmonary mucormycosis (PM) is a rare and life-threatening fungal infection. Here, we report a case of an acute T lymphoblastic leukemia patient with mixed infections of lethal invasive Mucormycosis and multi-drug resistant (MDR) bacteria. After receiving anti-infection drugs to control the patient's fever, he was treated with induction chemotherapy. However, the malignant hematological disease was poorly controlled by the chemotherapy and the patient developed more symptoms of infection. Although the results of multiple β-D-Glucan (G) and Galactomannan (GM) tests remained negative, several pathogens were detected using metagenomic next-generation sequencing (mNGS). In particular, mNGS identified Malassezia pachydermum, Mucor racemosus, and Lauteria mirabilis in the peripheral blood and local secretion samples. The Mucor and bacterial infections were further confirmed via multi-site and repeated fungal and bacterial cultures, respectively. Despite adjusting the anti-infection therapy according to the diagnostic results, the patient's blood disease and symptoms of infection were not alleviated. Additionally, the MDR Acinetobacter baumannii infection/colonization was not confirmed until the seventh culture of the peripheral venous catheter tip. Due to the patient's deteriorating conditions, his family decided to withdraw him from further treatment. Overall, mNGS can facilitate a diagnosis of Mucormycosis by providing clinical and therapeutic information to support conventional diagnostic approaches. For the early and timely diagnosis and treatment of PM, it is also necessary to consider the malignant hematological conditions and repeated tests through multiple detection methods.
A Unique Case of Testicular Compromise in a Patient with Ovotesticular Disorder of Sexual Development and a Solitary Testicle
Authors: Ethan Vargo, Lillianne Stanitsas, Mark Memo
Journal: Case Rep Urol (2017)
MeSH terms: Case Reports

Ovotesticular disorder of sexual development (OT-DSD), previously true hermaphroditism, is a condition in which one or both gonads contain testicular and ovarian tissue. A 23-year-old OT-DSD male patient presented with continuous pain in his right testicle which had been previously intermittent over the past five days. The patient had a prior history of left ovotestis removal with prosthesis placement, a right undescended testicle with aberrant anatomy, and hypospadias repair, all of which were corrected shortly after birth. A lack of blood flow to the testicle on Doppler ultrasound warranted immediate surgical intervention. Intraoperatively, an aberrant tunica vaginalis space with a compressive hematoma secondary to epididymal abscess rupture was identified as the causation for testicular compromise. Return of vascular flow to the testicle was confirmed with intraoperative Doppler after hematoma and epididymis excision, and the testicle was left in situ. It is imperative to consider epididymal etiologies with acute testicular pain, especially in a patient with a medical history that carries an increased risk for gonadal anomalies.
A rare case of Aeromonas hydrophila catheter related sepsis in a patient with chronic kidney disease receiving steroids and dialysis: a case report and review of Aeromonas infections in chronic kidney disease patients
Authors: Muhammad Abdul Mabood Khalil, Abdur Rehman, Waqar Uddin Kashif, Manickam Rangasami, Jackson Tan
Journal: Case Rep Nephrol (2013)

Aeromonas hydrophila (AH) is an aquatic bacterium. We present a case of fifty-five-year-old gentleman with chronic kidney disease (CKD) due to crescentic IgA nephropathy who presented to us with fever. He was recently pulsed with methyl prednisolone followed by oral prednisolone and discharged on maintenance dialysis through a double lumen dialysis catheter. Blood culture from peripheral vein and double lumen dialysis catheter grew AH. We speculate low immunity due to steroids and uremia along with touch contamination of dialysis catheter by the patient or dialysis nurse could have led to this rare infection. Dialysis catheter related infection by AH is rare. We present our case here and take the opportunity to give a brief review of AH infections in CKD patients.
Case report: further delineation of AEBP1-related Ehlers-Danlos Syndrome (classical-like EDS type 2) in an additional patient and comprehensive clinical and molecular review of the literature
Authors: Tomomi Yamaguchi, Shujiro Hayashi, So Nagai, Akihiko Uchiyama, Sei-Ichiro Motegi, Tomomi Fujikawa, Yuri Takiguchi, Tomoki Kosho
Journal: Front Genet (2023)
Keywords: ehlers-danlos syndrome, adipocyte enhancer binding protein 1 (aebp1), aortic carboxypeptidase-like protein (aclp), autosomal recessive, classical-like eds type 2 (cleds2), connective tissue disorders
MeSH terms: Case Reports

The Ehlers-Danlos Syndromes (EDS), a group of hereditary connective tissue disorders, were classified into 13 subtypes in the 2017 International Classification. Recently, a new subtype of EDS called classical-like EDS type 2 (clEDS2), which is caused by biallelic variants in the adipocyte enhancer binding protein 1 (AEBP1) gene, was identified. We describe the 11th patient (9th family) with clEDS2, who was complicated by a critical vascular event (superior mesenteric artery aneurysm and rupture). A next-generation sequencing panel-based analysis revealed compound heterozygous variants in AEBP1: NM_001129.5:c.[2296G>T]; [2383dup], p.[(Glu766*)]; [(Glu795Glyfs*3)]. Light microscopic analyses showed increased interfibrillar spaces in the reticular dermis, a disorganized arrangement of collagen fibers, and decreased collagen content. An electron microscopic analysis showed the presence of collagen fibrils with irregular contours (flower-like appearance) and small collagen fibrils. A biochemical analysis showed reduced secretion of type I and type III procollagen. Clinical and molecular features of the current patient and all previously reported patients were reviewed comprehensively. Manifestations noted in most cases (>80%) included skin features (hyperextensibility, atrophic scars, easy bruising, excessive skin/skin folding, delayed wound healing, translucency, piezogenic papules), skeletal features (generalized joint hypermobility, dislocations/subluxations, pes planus), dental abnormalities, and neuromuscular abnormalities. Critical complications, each occurring in a single case, included superior mesenteric artery multiple aneurysm and rupture, aortic root dilation requiring surgery, and bowel rupture. Most AEBP1 variants were predicted or experimentally confirmed to lead to nonsense-mediated mRNA decay, whereas one variant resulted in a protein that was retained intracellularly and not secreted. Clinical, molecular, pathological, and biochemical features of the current patient, as well as a review of all previously reported patients, suggest the importance of the aortic carboxypeptidase-like protein encoded by AEBP1 in collagen fibrillogenesis.
Late-onset ornithine transcarbamylase deficiency caused by a somatic mosaic mutation
Authors: Tomoko Lee, Maiko Misaki, Hideki Shimomura, Yasuhiko Tanaka, Satoru Yoshida, Kei Murayama, Kimitoshi Nakamura, Ryoji Fujiki, Osamu Ohara, Hideo Sasai, Toshiyuki Fukao, Yasuhiro Takeshima
Journal: Hum Genome Var (2018)
MeSH terms: Case Reports

An 18-month-old boy was diagnosed with late-onset ornithine transcarbamylase deficiency. Genetic analysis revealed a mosaic frameshift mutation (p.Q279fs) in the OTC gene. Despite the presence of a null mutation, he exhibited a milder phenotype, suggesting that the wild-type allele could rescue the function of OTC. The presence of mosaicism has great effects on the clinical phenotype and recurrence-risk assessment, which should be taken into consideration for genetic counseling.
Multifocal intra-parenchymal and sub-pectoral malignant phyllodes tumor in young female, rare and unusual presentation: A case report
Authors: Mohammad Naser Athamnah, Omar M Abuelaish, Nimah A Rabai
Journal: Int J Surg Case Rep (2020)
Keywords: immediate reconstruction, malignant phyllodes tumor, multifocal phyllodes, sub-pectoral phyllodes
MeSH terms: Case Reports

Introduction:
Phyllodes tumors are rare fibroepithelial breast tumors, accounting for less than 1% of all breast tumors. Most Phyllodes tumors are benign. However, about 10% are malignant. The Mean age of presentation for the Malignant Phyllodes tumors is 40 years. This case report describes an unusual presentation of Phyllodes tumor in a young female with an unusual site and presentation of the tumor.
Presentation of case:
A 23-year-old female presented with multiple left breast rapidly growing masses. Imaging showed two intra-parenchymal left breast masses and one mass lying posterior to the left pectoralis major muscle, anterior to the chest wall. Diagnosed as phyllodes tumor. Nipple areola sparing mastectomy was performed with excision of the tumor and immediate reconstruction using a silicone implant, followed by radiotherapy.
Conclusion:
Phyllodes tumor usually presents in patients between 35-55 years old as a single breast mass. Yet, in rare cases, multifocal disease can happen, and disease can present in younger ages. The sub-pectoral presentation of phyllodes tumor is not mentioned in the literature before this case.
A Case of Necrotizing Fasciitis Mimicking a Burn in an Elderly Patient
Authors: Madiha Khan, Shubham Bhatia, Kelly L Cervellione, Martine A Louis
Journal: Case Rep Surg (2023)
MeSH terms: Case Reports

Necrotizing fasciitis travels along the fascial plane and surrounding soft tissue, leading to ischemia and necrosis. Fournier's gangrene is a type of necrotizing fasciitis invading the deep and superficial planes of the perineal/genital region. It is rapidly progressive in nature and may have life-threatening consequences. Fournier's often exhibits a misleading clinical presentation and can be mistaken for other conditions, such as hematoma, phlebitis, cellulitis, or septic arthritis. Since the ramifications of delayed diagnosis can be clinically significant, recognition of potential mimics is important to prevent morbidity or mortality. We report a case of Fournier's gangrene mimicking a second-degree burn, an exceedingly rare presentation.
Yersinia pseudotuberculosis septicemia and HIV
Authors: Maria Grazia Paglia, Silvia D'Arezzo, Anna Festa, Cosmo Del Borgo, Laura Loiacono, Andrea Antinori, Giorgio Antonucci, Paolo Visca
Journal: Emerg Infect Dis (2005)
MeSH terms: Bacteremia / microbiology, HIV Infections / complications, Yersinia pseudotuberculosis Infections / microbiology, Case Reports, Research Support, Non-U.S. Gov't, Adult, Female, Humans, Italy, Male, Middle Aged, Yersinia pseudotuberculosis Infections / diagnosis

Two cases of community-acquired septicemia caused by serotype-O1 Yersinia pseudotuberculosis were diagnosed in middle-aged, HIV-positive, immunodeficient patients during an 8-month period. Bacterial isolates were genetically indistinguishable, but no epidemiologic link between the 2 patients was established. HIV-related immunosuppression should be regarded as a risk factor for Y. pseudotuberculosis septicemia.
Nail patella syndrome: a rare cause of renal failure in a young adult
Authors: Nagendra Boopathy Senguttuvan, Arjun Sivaraman, Devasenathipathy Kandasamy, Kanniraj Marimuthu
Journal: Pan Afr Med J (2011)
Keywords: renal failure, absent patella, nail dysplasia
MeSH terms: Nail-Patella Syndrome / complications, Renal Insufficiency / etiology, Case Reports, Humans, Male, Nail-Patella Syndrome / diagnosis, Young Adult

Nail Patella Syndrome (NPS) is a rare hereditary disease affecting multiple systems with predominant involvement of Kidney, Bones and Nails and Eyes. We report a case of NPS which presented as renal failure in a 22 year old male. The patient was admitted with decreased urine output and features of fluid overload and was being evaluated for renal failure. Physical examination revealed associated bony deformities which raised the suspicion of NPS as a possible etiology. This was confirmed by the radiological evaluation which showed the classical features of NPS. Though NPS is a rare clinical condition, physicians should complete knowledge about the components of NPS for appropriate diagnosis and for early detection of other systems involvement.
Fetus-in-Fetu: A Differential Diagnosis of Neonatal Fetiform Encysted Abdominal Mass
Authors: Muhammad C Jihwaprani, Ahmed A Mousa, Ali A Mohamed, Yousef Alkouz, Inas H Bahlawan
Journal: Cureus (2023)
Keywords: antenatal diagnosis, fetus-in-fetu, neonatal mass, teratoma, twinning
MeSH terms: Case Reports

Fetus-in-fetu (FIF) is a rare embryological anomaly in which an encysted fetiform mass develops within the infant or adult host body. It mainly occurs intraabdominal. There are embryo-pathogenetic debates over whether it belongs to the spectrum of highly differentiated teratomas or is a parasitic twinning from a monozygotic monochorionic diamniotic pregnancy. The presence of vertebral segments and an encapsulating cyst can reliably distinguish FIF from teratoma. The diagnosis may be initially made by imaging modalities such as computed tomography (CT) and magnetic resonance imaging (MRI), and a confirmatory diagnosis made by histopathology of the excised mass. Our center experienced a case of a male neonate presented after emergency cesarean delivery at 40-week gestation with the suspicion of an intraabdominal mass identified antenatally. Antenatal ultrasonography at 34 weeks gestation suggested the presence of an intraabdominal cystic mass measuring 6.5 cm with a hyperechoic focus. A follow-up MRI performed after the delivery showed a well-defined mass with the cystic formation in the left abdominal region with a centrally located fetiform structure. Vertebral bodies and long limb bones were visualized. The diagnosis of FIF was initially made preoperatively by the characteristic findings of imaging studies. Laparotomy was scheduled on day 6, revealing a large encysted mass with fetiform content. FIF should be considered a possible differential diagnosis of neonatal encysted fetiform mass. Routine antenatal imaging permits more frequent antenatal detection with earlier workup and management.
Identification of a novel deletion within ALDH3A2 gene in an Iranian Family with Sjögren-Larsson Syndrome
Authors: Maryam Taghdiri, Atie Kashef, Majid Fardaei, Mohammad Miryounesi
Journal: Clin Case Rep (2017)
Keywords: aldh3a2 gene, sjögren–larsson syndrome, congenital neuroichthyosis, deletion
MeSH terms: Case Reports

Sjögren-Larsson syndrome (SLS) is a rare type of congenital ichthyosis with neurological problems and intellectual disability. Homozygous mutations in ALDH3A2 gene are known to be responsible for this syndrome. Here, we report an Iranian family with congenital SLS bearing a novel two-base-pair deletion within ALDH3A2 genomic sequence. Our finding expands the mutation spectrum of ALDH3A2 that is applicable for further molecular studies and management of SLS.