OpenMed/multicare-articles huggingface dataset:
Aggressive pseudomyxoma peritonei: a case report with an unusual clinical presentation
Authors: Zisis Touloumis, George Galyfos, Nikolaos Kavouras, Michalis Menis, Laurant Lavant
Journal: Case Rep Oncol Med (2013)

Introduction. Pseudomyxoma peritonei (PMP) is an uncommon surgical entity. We report a case of aggressive disease with an unusual clinical presentation and we analyze current data on diagnosis and management of PMP. Case Presentation. A 71-year-old male patient presented with intermittent diarrhea and loss of appetite during the last two months, without any other classic symptoms of PMP. The clinical examination was misleading due to patient's obesity. The radiological evaluation revealed ascites of the abdomen and possible mucocele of the appendix, whereas the laboratory exams showed high values of specific tumour markers. The patient underwent an exploratory laparotomy for definite diagnosis. Biopsies and immunohistochemical examination confirmed the diagnosis of an aggressive and extended peritoneal mucinous carcinomatosis (PMCA). The patient was programmed for adjuvant systematic chemotherapy, which was not completed due to progression of the disease. Conclusions. Progressed PMP can present with unspecific symptoms that mislead diagnosis. Cytoreductive surgery in combination with systematic chemotherapy could be appropriate for aggressive PMCA, even with an unfavourable prognosis.
Multifocal High-Grade Pancreatic Precursor Lesions: A Case Series and Management Recommendations
Authors: Mazhar Soufi, Michele T Yip-Schneider, Rosalie A Carr, Alexandra M Roch, Howard H Wu, Christian Max Schmidt
Journal: J Pancreat Cancer (2019)
Keywords: ipmn, panin-3, pancreatic multifocal high-grade dysplastic lesions, pancreatitis, recurrence
MeSH terms: Case Reports

Background: The risk of developing invasive cancer in the remnant pancreas after resection of multifocal high-grade pancreatic precursor lesions is not well known. We report three patients who were followed up after resection of multifocal high-grade pancreatic intraepithelial neoplasia (PanIN)-3 or intraductal papillary mucinous neoplasia (IPMN), two of whom eventually developed invasive carcinoma. Presentation: 1) 68-year-old woman who had a laparoscopic distal pancreatectomy for multifocal mixed-type IPMN, identified as high-grade on final pathology, with negative surgical margins. During semiannual monitoring, eight years from the first surgery, the patient developed suspicious features prompting surgical resection of the body with final pathology revealing invasive ductal adenocarcinoma in the setting of IPMN. 2) 48-year-old woman who had a distal pancreatectomy for severe acute/chronic symptomatic pancreatitis, with final pathology revealing multifocal high-grade PanIN-3, with negative surgical margins. Despite semiannual monitoring, two years from the first surgery, the patient developed pancreatic adenocarcinoma with liver metastasis. 3) 55-year-old woman who had a Whipple procedure for symptomatic chronic pancreatitis, with multifocal PanIN-3 on final pathology. The patient underwent completion pancreatectomy due to symptomatology and her high-risk profile, with final pathology confirming multifocal PanIN-3. Conclusion: Multifocal high-grade dysplastic lesions of the pancreas might benefit from surgical resection.
Unilateral Atraumatic Expulsion of an Ectopic Pregnancy in a Case of Bilateral Ectopic Pregnancy
Authors: Victoria Sampson, Oluremi Mogekwu, Ammar Ahmed, Farida Bano
Journal: Case Rep Obstet Gynecol (2017)
MeSH terms: Case Reports

Ectopic pregnancy occurs in 1-2% of pregnancies. The fallopian tube is the most common site; however, bilateral tubal ectopic pregnancy is an extremely rare phenomenon, seen in approximately 1/200,000 pregnancies. It is usually the result of assisted reproductive techniques (ART). Ultrasound (USS) and serial beta-hCG levels have shown poor efficacy for accurate diagnosis. Laparoscopy is the diagnostic gold standard. The majority of cases are managed surgically with bilateral salpingectomy. A 26-year-old female presented to our early pregnancy unit with pain and vaginal bleeding at 5-week gestation after IVF. USS was inconclusive and her b-hCG levels rose with worsening pain; therefore, a decision was made for diagnostic laparoscopy. Although there was a clear right sided ectopic pregnancy, the left tube was swollen and therefore a methylene blue dye test was carried out to confirm blockage. Atraumatic milking, to expose the dye, expelled necrotic tissue which histology confirmed to be a second ectopic pregnancy. She made a good recovery with falling beta-hCG levels and left tubal preservation. As the use of ART increases, bilateral ectopic pregnancies will become more common. Novel and established techniques should be used to help confirm the diagnosis and assist in tubal preservation.
A case report on delayed diagnosis of perforated Crohn's disease with recurrent intra-psoas abscess requiring omental patch
Authors: David Gao, Melissa G Medina, Ehab Alameer, Jonathan Nitz, Steven Tsoraides
Journal: Int J Surg Case Rep (2019)
Keywords: case report, omental packing, perforating crohn’s disease, psoas abscess

Introduction:
Intra-abdominal abscesses associated with Crohn's disease (CD) can rarely occur in the psoas muscle. An intra-psoas abscess is prone to misdiagnosis because its location mimics other diseases, like appendicitis and diverticulitis [1].
Presentation of case:
We present the case of a 25-year-old female with an 11-year history of CD, previously well-controlled on Remicade, who presented with right lower quadrant (RLQ) pain and CT findings of a right psoas abscess initially attributed to perforated appendicitis. Two percutaneous drainages pre-ileocecectomy, laparoscopic ileocecectomy, three percutaneous drainages post-ileocolectomy, and evidence of a recurrent abscess prompted diagnostic laparoscopy. The abscess was unroofed and debrided. A flap of omentum was used to fill the abscess cavity. A comprehensive literature search was performed using the terms 'Crohn's abscess', 'intra-psoas abscess', and 'omental patches' in Medline and on PubMed.
Discussion:
We attribute the abscess' recurrence to possible epithelialization of the abscess cavity. Intra-psoas abscesses, albeit rare, are a known manifestation of CD. Percutaneous drainage is the initial standard of care, although diagnosis can be difficult given its association with several diseases, which can delay definitive treatment. We summarize a recently proposed and agreed upon treatment scheme for the management of the Crohn's patient with an abdominal abscess. We also propose the novel technique of omental packing in abscess management.
Conclusion:
Clinician awareness must be heightened for perforating CD in the setting of abscess refractory to either multiple drainage procedures, although care should be taken to individualize treatment to each CD patient who presents with an abdominal abscess.
Case report: 5-Fluorouracil treatment in patient with an important partial DPD deficiency
Authors: Antonin Schmitt, Bernard Royer, Romain Boidot, Joseph Berthier, François Ghiringhelli
Journal: Front Oncol (2023)
Keywords: 5-fu (5-fluorouracil), dpd deficiency, esophageal cancer, therapeutic drug monitoring, uracilemia
MeSH terms: Case Reports

Esophageal cancer is a cancer with poor prognosis and the standard 1st line treatment for metastatic or recurrent EC is systemic chemotherapy with doublet chemotherapy based on platinum and 5-fluorouracil (5-FU). However, 5-FU could be a source of severe treatment-related toxicities due to deficiency of dihydropyrimidine dehydrogenase (DPD). In this case report, a 74-year-old man with metastatic esophageal cancer was found to have partial DPD deficiency based on uracilemia measurements (about 90 ng/mL). Despite this, 5-FU was safely administered thanks to therapeutic drug monitoring (TDM). The case report highlights the importance of TDM in administering 5-FU to patients with partial DPD deficiency, as it allows individualized dosing and prevents severe toxicity.
Pheochromocytoma Presenting as Testicular Pain: An Unusual Case Report
Authors: Jinal K Patel, Varun Reddy, Gauthier Stepman, Debra Angelo, Johnathan Frunzi
Journal: Case Rep Endocrinol (2021)
MeSH terms: Case Reports

Pheochromocytoma (PCC) is a rare catecholamine-secreting tumor that arises from chromaffin cells of the adrenal medulla which are derived from the neural crest. This report illustrates a 51-year-old Caucasian male with a history of hypertension diagnosed two years ago who presented to the hospital due to acute onset of right testicular pain of 3-day duration. Laboratory results and imaging revealed a presumptive diagnosis of PCC. The patient had undergone robot-assisted laparoscopic right adrenalectomy 14 days after being diagnosed with PCC due to perioperative management with phenoxybenzamine. The final pathology report revealed a PCC. At follow-up two weeks after discharge, the patient reported complete resolution of his testicular pain.
Growth and descent of the testes in infants with hypogonadotropic hypogonadism receiving subcutaneous gonadotropin infusion
Authors: Anne-Sophie Lambert, Pierre Bougneres
Journal: Int J Pediatr Endocrinol (2016)
Keywords: congenital hypogonadotropic hypogonadism, gonadotropin infusion, infancy, testes descent
MeSH terms: Case Reports

Background:
One third of infants with congenital hypogonadotropic hypogonadism (CHH) are said to have micropenis and/or bilateral or unilateral cryptorchidism leading many of them to orchiopexy. Our previous study in two patients suggests that prolonged subcutaneous infusion of large doses of gonadotropins might normalize testicular function and growth.
Case presentation:
To confirm the effects of early and prolonged subcutaneous infusion of large doses of gonadotropins on growth and descent of the testes. Eight boys with CHH, aged 0.25-11 months. Testes were non-palpable in 5 or in high scrotal position in 3. CHH was isolated in 5 infants and part of a syndrome of combined pituitary hormonal deficits in the 3 others. In response to gonadotropin infusion, mean levels of testicular hormones were normalized. Complete testis descent occurred in 6 patients. Partial descent occurred in 2. Testes re-ascended in 1 patient. Testes and penis gained normal dimensions in all cases.
Conclusion:
Subcutaneous gonadotropin infusion seems able to induce testis descent in a large proportion of infants with CHH. If confirmed, this may allow patients to avoid testes surgery but studies in larger series are needed to evaluate the benefits of this treatment versus traditional orchiopexy.
A Rare Finding of a BRAF Mutation in Renal Cell Carcinoma with Response to BRAF-Directed Targeted Therapy
Authors: Natasha Banerjee, Esha Sachdev, Robert A Figlin
Journal: Cureus (2016)
Keywords: braf inhibitor, oncology, precision medicine, renal cell cancer, targeted therapy, whole genome sequencing
MeSH terms: Case Reports

Whole exome sequencing can identify somatic mutations in malignant tumors and allow for personalized and novel treatment of common malignancies. Mutations in the BRAF gene are rare in renal cell carcinoma, and thus, BRAF inhibitors are not considered standard in the treatment of these cancers. Here, we report a case of a patient with a rare BRAF-mutated metastatic renal cell carcinoma who obtained a good clinical response to BRAF inhibition. This case underscores the value of precision medicine in an era of rapidly evolving therapeutics for malignancies.
Management of Multiple Arteriovenous Malformations of the Small Bowel
Authors: Masahiro Hirakawa, Rie Ishizuka, Masanori Sato, Naotaka Hayasaka, Hiroyuki Ohnuma, Kazuyuki Murase, Kohichi Takada, Tatsuya Ito, Takayuki Nobuoka, Koji Miyanishi, Masayoshi Kobune, Ichiro Takemasa, Junji Kato
Journal: Case Rep Med (2019)
MeSH terms: Case Reports

A 62-year-old Japanese female was referred to our hospital with gastrointestinal bleeding. Although small-bowel bleeding was suspected, no bleeding source was identified by enhanced computed tomography (CT), video capsule endoscopy (VCE), and double-balloon enteroscopy (DBE). Five years later, the patient had recurrent intermittent bloody stools with a significant decrease in hemoglobin levels. Although no active bleeding was observed on antegrade DBE, we detected a pulsatile submucosal uplift accompanied by a small red patch on the top of the uplift in the jejunum. Arteriovenous malformation (AVM) was suspected as the cause of small-bowel bleeding. Multiple-phase CT showed a number of small vascular ectasias during the arterial phase in the jejunum, and we confirmed the presence of multiple AVMs in the jejunum by selective angiography. To identify the location of the lesions and determine the minimal surgical margins, we performed intraoperative selective angiography with indocyanine green (ICG) injection. This technique allowed us to clearly observe the region and perform segmental small-bowel resection with minimal surgical margin. The patient reported that she has had no gastrointestinal bleeding at the two years follow-up visit.
Nasopharyngeal carcinoma metastasis to the mammary gland: A case report
Authors: Shuang Li, Jiyuan Yang
Journal: Oncol Lett (2015)
Keywords: nasopharyngeal carcinoma, secondary breast cancer

Nasopharyngeal carcinoma is the second most common type of malignancy in Southern China. Metastatic sites are usually multifocal and involve the bones, lungs and distant lymph nodes. To date, there have been no studies with regard to nasopharyngeal carcinoma metastasis to the mammary gland. In the current study, the case of a 56-year-old female with nasal obstruction, epitaxis and a bilateral neck mass is presented. Following a series of examinations, the patient was diagnosed with nasopharyngeal carcinoma (cT3N3M0). Subsequently, the patient received radical radiation therapy. After three months, a mass was identified in the left breast, together with enlargement of multiple lymph nodes in the left axilla. The patient underwent a mastectomy and pathological examination revealed that the breast mass and axillary lymph node tissues were derived from the nasopharynx. To the best of our knowledge, this is the first report of a nasopharyngeal carcinoma that metastasized to the mammary gland.
Bullous lesions following phototherapy in a newborn
Authors: Marina Moura Toscano, Flavia Fernandes Cintra, Ludmila Oliveira Resende, Paula Casteleti, Lucas Hirano Arruda Moraes, Maria Cecilia da Matta Rivitti-Machado, Marcello Menta Simonsen Nico, Juliana Zoboli Del Bigio, Werther Brunow de Carvalho
Journal: Einstein (Sao Paulo) (2023)
MeSH terms: Lupus Erythematosus, Systemic / complications, Porphyria, Erythropoietic / diagnosis, Porphyria, Erythropoietic / genetics, Porphyria, Erythropoietic / therapy, Case Reports, Blister / complications, Humans, Infant, Infant, Newborn, Male, Mutation, Phototherapy

A male infant presented with progressive jaundice immediately after birth. Fecal acholia and choluria associated with extensive bullous skin lesions in his trunk, abdomen, and upper and lower limbs developed during phototherapy. Several diagnostic hypotheses were presented, including neonatal porphyria, hemochromatosis, Alagille syndrome, and neonatal lupus. A 24-hour urine sample for the dosage of urinary porphyrins was collected, showing high results (1823.6µg in 100mL). At 50 days of life, fluorescence spectroscopy using a Wood's lamp revealed simultaneous bright red fluorescence of urine-stained diapers and sample blood. A definitive diagnosis of congenital erythropoietic porphyria was made following identification of a mutation of the uroporphyrinogen synthetases III gene on genetic testing. The patient was subsequently maintained in a low light environment since then, resulting in improvement of the lesions. Congenital erythropoietic porphyria is a disease of the group of porphyrias that presents shortly after birth with blistering occurring in regions exposed to the sun or other ultraviolet light. Atrophic scars, mutilated fingers, and bright red fluorescence of the urine and teeth may also be observed. There is no specific treatment, and prophylaxis comprising a total avoidance of sunlight is generally recommended. A high degree of suspicion is required for diagnosis. An early diagnosis can lead to less damage. Here, we present the case of a newborn with congenital erythropoietic porphyria diagnosed after presenting with bullous lesions secondary to phototherapy.
Clinicopathological Features of Inflammatory Myofibroblastic Tumor in the Breast
Authors: Shifei Liu, Rui Yuan, Yulan Jin, Chunyan He, Xingzheng Zheng, Yang Zhan
Journal: Breast J (2022)
MeSH terms: Breast Neoplasms / diagnostic imaging, Breast Neoplasms / pathology, Breast Neoplasms / surgery, Granuloma, Plasma Cell / pathology, Case Reports, Female, Humans, Immunohistochemistry, Receptor Protein-Tyrosine Kinases, Receptor Protein-Tyrosine Kinases

Inflammatory myofibroblastic tumor (IMT) is a mesenchymal spindle cell tumour with low malignant potential which is extremely rare in breasts. Because of the lack of typical imaging and clinical characteristics of IMT, it is easy to misdiagnose before operation. We now report a case of a 37-year-old woman presenting with a mass in her left breast. Ultrasound showed a well-circumscribed lesion in the lower outer quadrant. The patient underwent lumpectomy, and histopathology revealed a tumor which was composed of fusiform cells and inflammatory cells. Immunohistochemistry (IHC) showed tumor cells are positive for vimentin, ALK, BCL2, and SMA. The FISH test demonstrated ALK (2p23) chromosomal translocation (ALK positive). The final diagnosis of breast IMT was rendered with nonclassical morphology. Postoperative 30-month follow-up no evidence showed residual tumor or recurrence. As a very rare tumor, breast IMT could be easily misdiagnosed clinically and pathologically. Complete surgical resection of the tumor is preferred, and it has the risk of recurrence and metastasis.
Case report: Long term follow-up of a large unilateral epididymal cyst in a stallion used for teaching: Is this condition associated with infertility?
Authors: Gabriela Fernandes Silva, Raquel Cunha, Fátima Carvalho, Mário Ribeiro, António Rocha, Irina Amorim, Tiago Guimarães
Journal: Front Vet Sci (2023)
Keywords: cyst, epididymis, equine, semen, sperm granuloma, spermatocele
MeSH terms: Case Reports

A 30-year-old Lusitano stallion presented with an enlarged right epididymis. The ultrasound scan revealed a cyst-like formation and the histopathological examination was compatible with epididymal cyst located at the body/tail transition, epididymal spermatocele and sperm granuloma and epididymitis. However, these conditions did not seem to affect the animal's reproductive performance, nor did the semen parameters analyzed over the 8 years after the diagnosis show significant changes. Nevertheless, since the ejaculate contains mostly sperm cells from the tail of the epididymis, where fertile spermatozoa are stored until ejaculated, a deep knowledge of the different conditions that can affect this organ is of the utmost importance.
Decompression of a Large Periapical Lesion: A Case Report of 4-Year Follow-Up
Authors: Claudio Maniglia-Ferreira, Fabio de Almeida Gomes, Marcelo de Morais Vitoriano, Francisco de Assis Silva Lima
Journal: Case Rep Med (2016)

This case report described the endodontic treatment and decompression of an extensive lesion in the anterior region of the mandible, detected during clinical and radiographic examination, in a patient with a complaint of slight tenderness to palpation in the area of mandibular right lateral incisor and canine. These teeth had been accessed without proper clinical evaluation, and their pulp tissues were exposed. The periodontal tissues were healthy, with no signs of inflammation or fistula. On radiographic examination, a radiolucent lesion with well-defined borders was seen extending from the distal root of mandibular left second premolar to the mesial root of mandibular right second premolar. Central and lateral mandibular left incisors were unresponsive to thermal pulp testing and exhibited coronal discoloration, consistent with a diagnosis of pulp necrosis. Due to persistent discharge from the root canal system during endodontic procedures despite application of intracanal medicament (calcium hydroxide paste), the decision was made to biopsy and decompress the lesion and conclude endodontic treatment. Histopathologic examination revealed a periapical granuloma. After endodontic treatment of the involved teeth, at 4-year clinical and radiographic follow-up, the affected region was almost completely repaired.
A Rare Case Report of Extensive Polyostotic Gorham's Disappearing Bone Disease Involving the Upper Extremity
Authors: Elke R Ahlmann, Yanling Ma, Vonny Tunru-Dinh
Journal: Case Rep Orthop (2011)
MeSH terms: Case Reports

Gorham's disease is a rare disorder involving the proliferation of endothelial channels resulting in resorption and disappearance of bone. An unusual case of polyostotic Gorham's disease affecting the scapula, humerus, radius, and ulna in a 39-year-old woman is described. The patient had extensive disease spreading across both the glenohumeral and humeroulnar joints. This is the first report of Gorham's disease spreading across multiple joints in the upper extremity.
A singular case of hyposmia and transient audiovestibular post-vaccine disorders: case report and literature review
Authors: Francesco Fantin, Andrea Frosolini, Isabella Tundo, Ingrid Inches, Cristoforo Fabbris, Giacomo Spinato, Cosimo de Filippis
Journal: Transl Neurosci (2022)
Keywords: covid-19 vaccination, anosmia, hyposmia, olfactory bulb, olfactory dysfunction, smell and taste disorders, tinnitus, vaccine adverse reaction
MeSH terms: Case Reports

Introduction:
Rare and mild adverse effects on cranial nerves have been reported after vaccination. Here, we report a singular case of smell and taste disorder associated with tinnitus that occurred after Oxford-AstraZeneca vaccination together with a review of the available literature.
Case presentation:
A 76-year-old patient experienced smell disorder, ear fullness and tinnitus 2 days after the first dose of Oxford-AstraZeneca vaccine. The patient then underwent a complete audiological and Ear, Nose and Throat evaluation, nasal endoscopy, Sniffin'Sticks battery, audiometric test battery, and cerebral magnetic resonance imaging (MRI). The exams revealed hyposmia and bilateral reduction of the volume of the olfactory bulbs (OB). At the follow-up, tinnitus was completely resolved while olfactory dysfunction only partially reduced.
Review of the literature:
A PubMed search was conducted on olfactory and gustatory dysfunctions after COVID-19 vaccination resulting in four case reports with a total of 10 patients. The main symptoms were hyposmia, parosmia, and dysgeusia developed after 1-9 days from vaccination with complete resolution occurring within 1 month. Notably, none of the considered articles reported reduction of OB volumes at cerebral MRI.
Discussion:
So far, no definitive cause-effect relationship has been established between anti-COVID19 vaccination and otolaryngologic adverse reactions. The persistence of hyposmia in our patient could possibly be explained by the reduction in OB volume, even though also the advanced age of the patient needs to be taken into account. This is a first indication of a cause-effect relation between hyposmia and Covid19 vaccination, even though a more robust study is needed to confirm the autoimmunological mechanisms responsible for these rare adverse reactions. However, it is worth highlighting that benefits of the anti-COVID-19 vaccination clearly outweigh the risk of rare adverse events.