OpenMed/multicare-articles huggingface dataset:
An inflammatory pseudotumour of the larynx: a case report and literature review of an unusual tumour
Authors: Chaido J Dava, Jiannis K Hajiioannou, Anastasios Terzis, John Bizakis
Journal: Ecancermedicalscience (2012)
Keywords: inflammatory myofibroblastic tumour, inflammatory pseudotumour, laryngeal neoplasms, plasma cell granuloma
MeSH terms: Case Reports

Background:
Inflammatory pseudotumour (IPT) is a rare benign pseudoneoplastic proliferation of unknown etiology, often showing locally aggressive behaviour. Conflicting theories about exaggerated response to injury versus true neoplastic origin have been suggested.
Methods:
We report a case of laryngeal pseudotumour in a 73-year-old man presenting with hoarseness and slowly progressive dyspnea and a short review of the English language literature on the subject.
Results:
Management consisted of midline vertical thyrotomy, excision of the tumour, and a temporary tracheotomy. No recurrence observed eight months postoperatively.
Conclusions:
Laryngeal IPT is extremely rare, and it may easily be misinterpreted as a malignant tumour. Conservative excision and anti-inflammatory therapy are advocated, since its general behaviour is benign.
A protocol to analyze the global literature on the clinical benefit of interlimb-coordinated intervention in gait recovery and the associated neurophysiological changes in patients with stroke
Authors: Shijue Li, Haojie Zhang, Yan Leng, Di Lei, Qiuhua Yu, Kai Li, Minghui Ding, Wai Leung Ambrose Lo
Journal: Front Neurol (2022)
Keywords: fmri, gait, interlimb coordinated, limbs coordination, motor recovery, stroke

Background:
Stroke is among the leading causes of disability of worldwide. Gait dysfunction is common in stroke survivors, and substantial advance is yet to be made in stroke rehabilitation practice to improve the clinical outcome of gait recovery. The role of the upper limb in gait recovery has been emphasized in the literature. Recent studies proposed that four limbs coordinated interventions, coined the term "interlimb-coordinated interventions," could promote gait function by increasing the neural coupling between the arms and legs. A high-quality review is essential to examine the clinical improvement and neurophysiological changes following interlimb-coordinated interventions in patients with stroke.
Methods:
Systematic review and meta-analysis will be conducted according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA). The literature will be retrieved from the databases of OVID, MEDLINE, PubMed, Web of Science, EMBASE, and PsycINFO. Studies published in English over the past 15 years will be included. All of the clinical studies (e.g., randomized, pseudorandomized and non-randomized controlled trials, uncontrolled trials, and case series) that employed interlimb intervention and assessed gait function of patients with stroke will be included. Clinical functions of gait, balance, lower limb functions, and neurophysiologic changes are the outcome measures of interest. Statistical analyses will be performed using the Comprehensive Meta-Analysis version 3.
Discussion:
The findings of this study will provide insight into the clinical benefits and the neurophysiological adaptations of the nervous system induced by interlimb-coordinated intervention in patients with stroke. This would guide clinical decision-making and the future development of targeted neurorehabilitation protocol in stroke rehabilitation to improve gait and motor function in patients with stroke. Increasing neuroplasticity through four-limb intervention might complement therapeutic rehabilitation strategies in this patient group. The findings could also be insightful for other cerebral diseases.
An Unusual Presentation of Adenoid Cystic Carcinoma
Authors: Kurren S Gill, Mark A Frattali
Journal: Case Rep Otolaryngol (2015)

Adenoid cystic carcinoma (ACC) is a relatively rare tumor of epithelial cell origin, most commonly arising from major salivary glands. It is uncommonly found outside the major or minor salivary glands and is especially rare when located in the nasal cavity. Diagnosis and treatment of ACC pose numerous challenges, partly due to its biological behavior of slow growth, high tendency of local recurrence, and perineural invasion. We present the case of a 67-year-old male with complaints of facial pain and swelling, with a CT scan showing a soft tissue mass extending from the right nasal cavity with osseous destruction. Biopsy revealed ACC with perineural invasion. ACC of the nasal cavity continues to pose diagnostic and therapeutic challenges to physicians. Because this rare pathology presents in a vague manner, early diagnosis requires a high index of suspicion for this disease and close follow-up care. Since ACC of the nasal cavity is seldom reported in the literature, it is our hope that reporting these rare instances as case reports will heighten physician awareness of this rare disease, allowing for early diagnosis and treatment.
Tuberous sclerosis complex: The critical role of the interventional radiologist in management
Authors: Puneet Garg, Anuradha Sharma, Heena Rajani, Apratim R Choudhary, Rajkumar Meena
Journal: SA J Radiol (2021)
Keywords: angiomyolipoma, hamartomas, renal haemorrhage, ruptured angiomyolipoma, selective renal embolisation, tuberous sclerosis complex
MeSH terms: Case Reports

Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous syndrome that is characterised by hamartomas in multiple organs, the characteristic imaging features of which are illustrated in this case report. Angiomyolipoma (AML) is the most common renal manifestation of TSC, which may present with life-threatening haemorrhage at the time of diagnosis. Interventional management with selective renal embolisation is currently the treatment of choice for the safe and effective management of ruptured renal AML.
Atypical Presentation of Testicular Adrenal Rest Tumor (TART) Leading to Bilateral Partial Orchiectomy in a 31-Year-Old Adult Revealing Primary Adrenal Insufficiency with CYP11A1 Deficiency
Authors: Cyril Garcia, Marie Dusaud, Paul Chiron, Mathilde Sollier, Sika Nassouri, Lionel Groussin, Mathilde Sibony, Claire Goursaud, Florence Roucher-Boulez, Lyse Bordier
Journal: Case Rep Endocrinol (2021)
MeSH terms: Case Reports

Adrenogenital syndrome is commonly associated with a deficiency in 21-hydroxylase but can be present in other rare enzymatic blocks. We report here the case of a 31-year-old man who presented with bilateral painful testicle lesions leading to bilateral partial orchiectomy as they were suspected for malignancy. These lesions were finally identified as benign testicle adrenal rest tumors (TARTs), and the patient was actually belatedly diagnosed with primary adrenal insufficiency due to 2 mutations of the CYP11A1 gene encoding the cholesterol side-chain cleavage enzyme (P450scc); the mutations were 940G > A (p.Glu314Lys) and c.1393C > T (p.Arg465Trp). The same mutations were found in his 29-year-old sister, who was then also diagnosed for primary adrenal insufficiency. Deficiency in P450scc is an extremely rare genetic autosomal recessive disorder with around 40 described families in the literature and 30 different mutations. As the diagnosis of delayed onset of P450Scc mutation is difficult, this case illustrates the need for a systematic endocrinological assessment in any case of bilateral testicle lesions, thus avoiding unnecessary surgery.
Late metastasis to macroscopically normal paranasal sinuses from breast cancer
Authors: James Johnston, Michael George, Petros D Karkos, Rhagav C Dwivedi, Samuel C Leong
Journal: Ecancermedicalscience (2013)
Keywords: breast cancer, ethmoid, metastasis, paranasal sinuses, sphenoid
MeSH terms: Case Reports

Background:
Breast cancer can very rarely result in late metastases to the paranasal sinuses.
Methods and results:
We present a 75-year-old woman who developed sinonasal symptoms mimicking sinusitis 20 years after receiving a breast cancer diagnosis. Rigid nasendoscopy was unremarkable, but due to persistent unilateral nasal symptoms and suspicious radiological findings, the patient underwent endoscopic biopsies of macroscopically normal sinuses which confirmed metastatic breast cancer.
Conclusions:
High suspicion index, a thorough history, and examination are of paramount importance as metastases to the sinuses from breast cancer can occur even 20 years after diagnosis.
Hypothyroidism and Sturge-Weber Syndrome associated with Bilateral Port-wine Nevus
Authors: Gyanendra Saroj, Anshul Gangwar, Jatinder Kaur Dhillon
Journal: Int J Clin Pediatr Dent (2016)
Keywords: hypothyroidism, pwss, sturge-weber syndrome
MeSH terms: Case Reports

Sturge-Weber syndrome (SWS) is a rare, nonhereditary developmental condition that is characterized by a hamartomatous vascular proliferation of the brain, resulting in multiple angiomas that occur on the same side due to arteriovenous malformations. It is believed to be caused by persistence of a vascular plexus around the cephalic portion of the neural tube and is present at birth in about 1 in every 50,000 babies. It is one of the phakomatoses which is often associated with port-wine stains (PWSs) of the face, glaucoma, seizures, mental retardation and ipsilateral leptomeningeal angioma. Many people with SWS probably never know they have it. Hypothyroidism is a condition that arises from inadequate release of thyroid-stimulating hormone to stimulate an otherwise normal thyroid gland. This condition is often associated with a deficient secretion of other pituitary hormone, and growth hormone deficiency occurs with an increased prevalence in SWS, presumably secondary to involvement of the hypothalamic-pituitary axis. Diagnosis is made by the presence of a facial PWS and evidence of leptomeningeal angioma either by skull X-ray or computed tomography scan that shows intracranial calcifications. Presently, there is no specific treatment for SWS, and the management of the clinical manifestations and complications is still far from adequate. Here, we report the case of hypothyroidism associated with SWS with oral and facial manifestations in an 11-year-old boy. How to cite this article: Saroj G, Gangwar A, Dhillon JK. Hypothyroidism and Sturge-Weber Syndrome associated with Bilateral Port-wine Nevus. Int J Clin Pediatr Dent 2016;9(1): 82-85.
Mixed Botryoid and Spindle Cell Bladder Rhabdomyosarcoma: An Outstanding Pediatric Case
Authors: Tommaso Alterio, Roberto Chimenz, Salvatore Arena, Giovanni Conti, Sabrina Cardile, Carmelo Romeo, Carmelo Salpietro, Carmelo Fede
Journal: Case Rep Pediatr (2017)
MeSH terms: Case Reports

We report a case of a 3-year-old North African child, initially assessed for nonspecific urinary symptoms such as haematuria and burning urination. The ultrasound evaluation showed a vegetating mass occupying the lumen with weak vascular signs at the Colour-Doppler evaluation. An explorative cystoscopy was performed and it revealed a nonbleeding lesion, white in colour, pedunculated, projecting into the lumen, and associated with a brown satellite formation. Histological examination showed a mixed Botryoid and Spindle Cell Rhabdomyosarcoma. This mixed histology has not been described before and no statistical data are reported in literature so far. Despite the Embryonal Rhabdomyosarcoma variant being the most common, the association characterized by two histological Rhabdomyosarcoma subtypes such as Botryoid and Spindle Cell is rarely observed and it is important to get an accurate histological diagnosis in order to immediately start the correct treatment protocol.
Genetic and Clinical Characteristics of Patients With Homozygous and Compound Heterozygous Familial Hypercholesterolemia From Three Different Populations: Case Series
Authors: Tatiana Marusic, Ursa Sustar, Fouzia Sadiq, Vjosa Kotori, Matej Mlinaric, Jernej Kovac, Saeed Shafi, Iqbal Khan, Matija Cevc, Katarina Trebusak Podkrajsek, Tadej Battelino, Urh Groselj
Journal: Front Genet (2020)
Keywords: fh, ldlr gene, compound heterozygous, familial hypercholesterolaemia, homozygous

Homozygous familial hypercholesterolemia (HoFH) and compound heterozygous familial hypercholesterolemia (cHeFH) are rare disorders generated by disease-causing variants in both alleles of the LDLR or other familial hypercholesterolemia (FH)-related genes. HoFH and cHeFH are characterized by severely elevated low-density lipoprotein-cholesterol (LDL-C), frequently leading to early cardiovascular disease. We investigated the genetic and clinical characteristics of HoFH and cHeFH patients from the Slovenian FH registry and/or those who were previously diagnosed or managed at our institution (Slovenian, Pakhtun and Albanian ethnicity), where genetic testing is not available. Our study includes seven patients. Their median age at the time of clinical diagnosis was 6.3 years (2.9-12.9 years); 2/7 were females. Two patients were diagnosed through the universal FH screening and five patients were diagnosed due to the presence of xanthomas. All the mutations are present in LDLR gene: 7 different genotypes for HoFH (p.Cys167Leu, p.Asp178Asn, p.Cys243Tyr, p.Gly549Asp, p.Cys27Trp, p.Ile585Thr and p.Val797Met) and p.Gly549Asp/p.Gln384Pro genotype for cHeFH patient. The median initial level of LDL-C was 17.0 mmol/L [655 mg/dL] (range 7.6-21.6 mmol/L). The HoFH/cHeFH patients are clinically and genetically very diverse. The clinical criteria (as Simon Broome criteria) might be applicable already in children to raise suspicion of FH but in some cases fail to distinguish heterozygous FH and HoFH/cHeFH patients. However, genetic testing is helpful in confirming the diagnosis, also for a prompt awareness, better compliance to treatment and family screening.
Interesting Case of Skin Metastasis in Colorectal Cancer and Review of Literature
Authors: J M V Amarjothi, R Villalan, J Jeyasudhahar, O L NaganathBabu
Journal: Case Rep Surg (2018)
MeSH terms: Case Reports

Skin metastasis is a complication rarely seen after curative resection for colorectal cancer and chemotherapy. The article describes a metachronous case of skin metastasis after curative resection. This article is presented to illustrate that genetic and molecular profiling of carcinoma is a must for diagnosis of aggressive biological behavior and that skin metastasis is usually a harbinger of adverse outcome.
Colovaginal anastomosis: an unusual complication of stapler use in restorative procedure after Hartmann operation
Authors: Zhongshu Yan, Guoqing Liao
Journal: World J Surg Oncol (2005)

Background:
Rectovaginal fistula is uncommon after lower anterior resection for rectal cancer. The most leading cause of this complication is involvement of the posterior wall of the vagina into the staple line when firing the circular stapler.
Case presentation:
A 50-year-old women underwent resection for obstructed carcinoma of the sigmoid colon with Hartmann procedure. Four months later she underwent restorative surgery with circular stapler. Following which she developed rectovaginal fistula. A transvaginal repair was performed but stool passing from vagina not per rectum. Laporotomy revealed colovaginal anastomosis, which was corrected accordingly. Patient had an uneventful recovery.
Conclusion:
Inadvertent formation of colovaginal anastomosis associated with a rectovaginal fistula is a rare complication caused by the operator's error. The present case again highlights the importance of ensuring that the posterior wall of vagina is away from the staple line.
Histopathological features in a case of peters' anomaly with acquired corneal staphyloma
Authors: Kumi Shirai, Yuka Okada, Yasushi Nakamura, Shizuya Saika
Journal: Case Rep Ophthalmol Med (2011)
MeSH terms: Case Reports

We report a case of corneal staphyloma histologically diagnosed as caused by Peters' anomaly. A 62-year-old male had a protruding opaque vascularized cornea that began to bulge from six months ago in the right eye. Since his right eye was blind and he wanted us to remove the eyeball for cosmetic improvement, we enucleated the affected eye. The enucleated tissue was fixed in formalin and embedded in paraffin for histological examination. Hematoxylin and eosin staining showed that the cornea lacked the posterior part of the corneal stroma and Descemet's membrane in the central region and the entire corneal endothelium. The corneal epithelium was keratinized. Collagen type I was strongly positive in peripheral cornea and weakly in protruding stroma. The cells labeled by antibodies against αSMA were scattered in the entire corneal stroma. As judged by the histological findings, the eye with the central corneal staphyloma was diagnosed as Peters' anomaly.
Streptococcal toxic shock syndrome in a patient with community-acquired pneumonia. Impact of rapid diagnostics on patient management
Authors: Kristian Bagge, Louise Pedersen, Jan Gorm Lisby
Journal: Access Microbiol (2020)
Keywords: streptococcus pyogenes, biofire film array, community-acquired pneumonia, point-of-care, streptococcal toxic shock syndrome, syndromic testing
MeSH terms: Case Reports

Here we describe a community-acquired pneumonia with Streptococcus pyogenes , group A following a common cold caused by human metapneumovirus. The patient, a 58-year-old woman with no prior medical history, developed respiratory failure and multi-organ dysfunction caused by streptococcal toxic shock syndrome. The patient was admitted to the intensive care unit and treated with supportive care. The definitive diagnosis was made by BioFire FilmArray by Biomerieux (multiplex PCR) 12 h before positive blood culture, thus enabling the clinician to add clindamycin and intravenous immunoglobulin to the treatment. The patient was discharged fully recovered after 23 days. Streptococci group A is a rare pathogen of severe pneumonia and rapid diagnostics by syndromic testing, potentially performed in a near patient setting, is crucial for early implementation of targeted antimicrobial treatment.
Prenatal diagnosis and postnatal findings of cephalothoracopagus janiceps disymmetros: a case report
Authors: Lívia Teresa Moreira Rios, Edward Araujo Júnior, Luciano Marcondes Machado Nardozza, Daniela Cristina Nacaratto, Antonio Fernandes Moron, Marília da Glória Martins
Journal: Case Rep Med (2012)
MeSH terms: Case Reports

Conjoined twins are rare variants of monozygotic twins, which result from an incomplete division of the embryonic disk. Cephalothoracopagus is a rare twin pregnancy described as imperfect fusion of the head and chest, but separated columns, limbs, and pelvis. They occur with incidence rates that range from 1 per 50,000 to 1 per 100,000 births; however, the incidence of the cephalothoracopagus variety is 1 per 58 conjoined twins. In the case of identical and symmetric faces caused by the orientations of the 2 notochordal axes that are perfectly ventroventral, they are called janiceps disymmetros. We present a prenatal diagnosis of a typical case of cephalothoracopagus janiceps disymmetros and the diagnostic confirmation by image and pathology exams.
Recurrent Pure Calcite Urolithiasis Confirmed by Endoscopic Removal and Infrared Spectroscopy in a Malnourished Anorectic Female
Authors: Frederikke Eichner Christiansen, Kim Hovgaard Andreassen, Palle Jörn Sloth Osther
Journal: J Endourol Case Rep (2016)
MeSH terms: Case Reports

Often when calcite is found as a component of urinary calculi, they are considered false calculi or artifacts. We present a case of true calcite urolithiasis. The stone material was removed percutaneously from a severely malnourished anorectic woman and analyzed by infrared spectroscopy (IRS). In addition, calcite urolithiasis was confirmed in several recurrent stone events by IRS. Laxative abuse with magnesium oxide was believed to be the underlying cause of stone formation, and ammonium chloride given as one weekly dose turned out to be effective for stone prevention.
Group B Streptococcal Septic Arthritis of the Shoulder and Potential Association with Pelvic Examination and PAP Smear
Authors: William E Daner 3rd, Brett D Meeks, William C Foster, Norman D Boardman 3rd
Journal: Case Rep Orthop (2016)

Group B streptococcal (GBS) infection of a native joint in a nonpregnant adult is uncommon. While many women are colonized with this flora, it rarely becomes pathogenic in its adult host. GBS associated joint infections have been reported, most of which have been related to hematogenous seeding from unknown sources. To our knowledge, there are no published case reports of a GBS joint infection in association with a pelvic exam and Papanicolaou (PAP) smear. In this case report, we present a case of GBS sepsis of a native shoulder, possibly resulting from a routine pelvic exam and PAP smear.
MUCOPOLYSACARIDOSIS TYPE IIIB MISDIAGNOSED AS AN AUTISTIC SPECTRUM DISORDER: A CASE REPORT AND LITERATURE REVIEW
Authors: Alan Tibério Dalpiaz Irigonhê, Angélica Malman Thomazine Moreira, Daniel Almeida do Valle, Mara Lúcia Schmitz Ferreira Santos
Journal: Rev Paul Pediatr (2020)
MeSH terms: Mucopolysaccharidosis III / diagnosis, Case Reports, Acetylglucosaminidase / deficiency, Adolescent, Autism Spectrum Disorder / diagnosis, Diagnostic Errors, Humans, Male, Mucopolysaccharidosis III / physiopathology, alpha-N-acetyl-D-glucosaminidase, Acetylglucosaminidase

Objective:
To report a rare case of mucopolysaccharidosis IIIB in a pediatric patient, with emphasis on the description of the clinical manifestations and the early diagnosis.
Case description:
A 14-year-old male patient, who presented regression of neuropsychomotor development since his three years and six months old, with speech loss and frequent falls, evolving with behavioral changes, with agitation and aggressiveness. Although being diagnosed with autism, there was no response to the established treatment; he was subsequently submitted to metabolic investigation, which lead to the diagnosis of Mucopolysaccharidosis IIIB.
Comments:
Identifying a metabolic disorder requires connecting multiple signs and symptoms, as well as eliminating other apparent causes. MPS IIIB is a diagnostic challenge, particularly in the early stages and in the absence of a family history of the disease.
Cellular fibroma of the ovary with multiloculated macroscopic characteristics: case report
Authors: Sheila Jorge Adad, Valeria Lima Laterza, Carlos David Teixeira Dos Santos, Antonio Alexandre Lisboa Ladeia, Joao Carlos Saldanha, Cleber Sergio da Silva, Luis Ronan Marquez Ferreira E Souza, Eddie Fernando Candido Murta
Journal: Case Rep Med (2012)
MeSH terms: Case Reports

Ovarian fibroma is the commonest benign tumor of the ovarian stroma. The cellular subtype accounts for around 10% of ovarian fibromatous tumors. The cellular fibroma is a tumor of uncertain malignant potential that may recur or be associated with peritoneal implants. Usually these are solid tumors, sometimes with small areas of cystic degeneration. This case is reported to highlight an unusual feature for an ovarian fibroma: the tumor was predominantly cystic with a small solid part; the multiple cavities contents consisted of viscous liquid that solidified under room temperature. The multiloculated cysts, the mucinous contents, and the solid areas simulated a borderline mucinous ovarian tumor on both CT scan and gross pathologic examination.
A rare case of adult ovarian hernia in MRKH syndrome
Authors: Himansu Shekhar Mohanty, Kapil Shirodkar, Aruna R Patil, Navin Rojed, Govindrajan Mallarajapatna, Shrivalli Nandikoor
Journal: BJR Case Rep (2017)
MeSH terms: Case Reports

Inguinal hernias containing ovary have a documented incidence of 3%. Most of the cases are associated with congenital anomalies of genital tract such as Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. A 20-year-old female presented with primary amenorrhoea, normal secondary sexual characteristics and genetic karyotyping showing 46XX chromosome. On USG abdomen and pelvis examination complete absence of uterus, cervix and vagina was found. Both the ovaries were seen away from normal anatomical location in bilateral inguinal canal without significant complication. MRI study confirmed agenesis of uterus, cervix and vagina; bilateral inguinal hernia with ovaries as contents. Type 1 MRKH syndrome with bilateral ovarian hernias was diagnosed.