OpenMed/multicare-articles huggingface dataset:
Failure to Thrive Revealing a Pilomyxoid Astrocytoma: An Uncommon Case Report with Literature Review
Authors: Salma Benyakhlef, Abir Tahri, Asmaa Khlifi, Hajar Abdelouahab, Kamaoui Imane, Fayçal Moufid, Siham Rouf, Hanane Latrech
Journal: Case Rep Pediatr (2021)
MeSH terms: Case Reports

Pilomyxoid astrocytoma (PMA) is a freshly described figure of low-grade neoplasms encountered in early childhood. Nevertheless, its precise classification by the World Health Organization (WHO) is still debatable. Making an exact diagnosis relies on histological and immunohistochemical pathognomonic features with specific radiological findings. PMA behaves aggressively with a shorter progression-free survival, and its management is unfortunately still arguable. We describe a rare case of PMA involving the suprasellar region who displays symptoms consistent with diencephalic syndrome. The diagnosis was made by magnetic resonance imaging (MRI) focused on the hypothalamic-pituitary axis, and the patient underwent a subtotal tumor resection combined with chemotherapy. Diagnosis of brain tumors should be kept in mind in young children with generalized and severe unexplained loss of subcutaneous fat with failure to thrive after ruling out classical causes.
Squamous cell carcinoma of ascending colon with pMMR/MSS showed a partial response to PD-1 blockade combined with chemotherapy: A case report
Authors: Yan Liu, Junliang Du, Pan Zhang, Wenjuan Meng, Haifeng Xiao
Journal: Front Oncol (2023)
Keywords: braf v600e, pd-l1, ascending colon, chemotherapy, immunotherapy, pmmr/mss, squamous cell carcinoma
MeSH terms: Case Reports

Primary colon squamous cell carcinoma (SCC) is extremely rare and associated with a poor prognosis. Moreover, there is no treatment guideline for this disease. Proficient mismatch repair/microsatellite-stable (pMMR/MSS) colorectal adenocarcinoma is refractory to immune monotherapy. Although the combination of immunotherapy with chemotherapy in pMMR/MSS colorectal cancer (CRC) is currently under investigation, the clinical activity of this approach in colorectal SCC remains unknown. In this article, we report the case of a pMMR/MSS CRC patient with ascending colon SCC who had high programmed cell death-ligand 1 (PD-L1) expression and the a missense mutation in codon 600 of the B-Raf proto-oncogene (BRAF V600E) mutation. The patient exhibited a significant response to the combination of immunotherapy and chemotherapy. After eight cycles of treatment with the combination of sintilimab and mFOLFOX6 (oxaliplatin, fluorouracil, and leucovorin), computed tomography-guided microwave ablation of the liver metastasis was performed. The patient achieved excellent durable response and continues to experience a good quality of life. The present case indicates that programmed cell death 1 blockade combined with chemotherapy may be an effective therapy for patients with pMMR/MSS colon SCC and high PD-L1 expression. Furthermore, PD-L1 expression may be a biomarker for immunotherapy in patients with colorectal SCC.
Intra-abdominal localisation of a buschke-lowenstein tumour: case presentation and review of the literature
Authors: N E Wester, E M Hutten, C Krikke, Robert A Pol
Journal: Case Rep Transplant (2013)

Giant condyloma acuminatum or Buschke-Lowenstein tumour is a very rare disease which usually is located in the genital, anorectal, and perianal regions. It is regarded as a type of verrucous carcinoma occurring on anogenital mucosal surfaces where it is locally invasive but displays a benign cytology. We describe a case of a 24-year-old woman with persisting condyloma acuminata progressing to a large intra-abdominal Buschke-Lowenstein tumour. To our knowledge such an advanced stage has only been reported once before. The severity and extent of the tumour both determine the treatment and patient outcome. Treatment was impeded by cachexia, an immunosuppressive state after kidney transplantation and difficulties in establishing a reliable diagnose. Interferon treatment was started which initially led to tumour reduction but was complicated by an interferon-induced pancreatitis, pneumonia, and fasciitis necroticans resulting in death. We present a literature overview on the treatment options for a Buschke-Lowenstein tumour, with emphasis on interferon therapy, with all the advantages and disadvantages.
Suspected Pericardial Tuberculosis Revealed as an Amyloid Pericardial Mass
Authors: Sebastiano Cicco, Antonio G Solimando, Patrizia Leone, Stefano Battaglia, Roberto Ria, Angelo Vacca, Vito Racanelli
Journal: Case Rep Hematol (2018)
MeSH terms: Case Reports

Primary systemic amyloidosis is not easily diagnosed. The immunoglobulin deposits are usually localized in the kidney, heart, and liver. We describe an unusual case of a patient suffering from a pericardial amyloidoma with internal calcifications and air bubbles that compressed the right ventricle and shifted the heart to the left. Since the patient was in shock, urgent pericardiotomy was performed. This site showed PET uptake. A monoclonal component was present. On these findings, differential diagnoses included multiple myeloma and atypical pericardial tuberculosis, whereas a periumbilical fat tissue biopsy demonstrated amyloidosis. A previous Salmonella species infection had most likely stimulated the production of amyloid. The patient received bortezomib/dexamethasone treatment and achieved a good response.
Heterotopic Gastric Mucosa Presenting as Lower Gastrointestinal Bleeding: An Unusual Case Report
Authors: Syed Muhammad Ali, Ayman Abdelhafiz Ahmed, Leena Amin Hussain Saaid, Gihan Mustafa Kamal Mohamed, Amjad Ali Shah, Mohannad Al-Tarakji, Zia Aftab, Inamulla, Sameera Rashid
Journal: Case Rep Surg (2019)
MeSH terms: Case Reports

Heterotopic gastric mucosa (HGM) is gastric mucosal tissue outside the stomach. It can be discovered anywhere throughout the gastrointestinal tract and is mostly asymptomatic. HGM, although rare beyond the ligament of Treitz, should be included in the differential diagnosis in a young patient with a polyp causing obstructive symptoms or bleeding. Very few cases are published in literature. We describe a case of young male who presented with an episode of large amount of melena, from a bleeding jejunal lesion, diagnosed by endoscopy. Laparotomy and wedge resection of the jejunal lesion was done, and histopathology showed gastric heterotopia in a small jejunal diverticulum.
Spontaneous rupture of the extensor pollicis brevis tendon in a baseball pitcher: a case report
Authors: Takuya Fujimoto, Yoshihiro Tanase, Takashi Oribe, Yasushi Watanabe
Journal: Ups J Med Sci (2009)
MeSH terms: Athletic Injuries / diagnosis, Baseball / injuries, Rupture, Spontaneous / diagnosis, Tendon Injuries / diagnosis, Case Reports, Adolescent, Athletic Injuries / surgery, Humans, Male, Rupture, Spontaneous / surgery

A 15-year-old pitcher on a boys' Little League baseball team suffered spontaneous rupture of the extensor pollicis brevis (EPB) tendon. Since the EPB tendon was, at surgery, found hypoplastic and non-functional, transfer of the extensor indicis proprius (EIP) tendon was carried out. After a 6-month period of rehabilitation and follow-up, the patient was able to resume playing baseball. Although rupture of the EPB is rare, transfer of the EIP tendon is one of the treatments of choice for such injuries.
SMARCA4-Deficient Carcinoma of Unknown Primary Presenting with Fatal Paraneoplastic Hypercalcemia in a Heart Transplant Recipient: First Report in a Male Patient
Authors: Abbas Agaimy, Deike Strobel, Thomas Strecker
Journal: Case Rep Pathol (2017)
MeSH terms: Case Reports

Small cell carcinoma of the ovary, hypercalcemic type (SCCOHT), is a rare SMARCA4-driven aggressive malignancy of young age characteristically associated with paraneoplastic hypercalcemia. Comparable neoplasms/presentations have not been reported in males. A 39-year-old male heart transplant recipient (HTX 40 months previously) presented with multiple liver nodules and hypercalcemic crisis. The serum parathyroid hormone-related protein (PTHrp) was significantly elevated (241 pg/ml; reference value < 57). Liver biopsy showed poorly differentiated partially rhabdoid neoplasm expressing pancytokeratin, CK20, and focally GATA3, SATB2, p63, and SALL4. The tumor cells showed dual loss of SMARCA4 and SMARCA2. He died of irreversible multiorgan failure one week after admission. To our knowledge, this is the first report highlighting the rare occurrence of paraneoplastic hypercalcemia associated with SMARCA4-deficient malignancies in males. Although the immunophenotype suggests urothelial or upper gastrointestinal tract origin, the exact primary tumor site could not be ascertained due to rapid death of the patient. SMARCA4 immunohistochemistry should be included in the workup of neoplasms associated with hypercalcemia irrespective of gender and site.
Case report: Traumatic median neuropathy in the distal forearm after massage therapy
Authors: Mi Rim Suh, Jun Hyeong Song, Yongbum Park, Seok Hyeon Lee, Jaeki Ahn
Journal: Front Neurol (2022)
Keywords: magnetic resonance imaging, massage, median neuropathy, mononeuropathy, nerve conduction study, ultrasound
MeSH terms: Case Reports

Median nerve damage caused by trauma is rare, especially after the massage therapy. There have been no reports of median neuropathy in the distal forearm following massage therapy. A 61-year-old man developed paresthesia and numbness in the right hand after two sessions of massage therapy. Electrophysiologic studies, ultrasound, and magnetic resonance imaging were used to localize and confirm the median nerve lesion in the distal forearm. Ultrasound-guided perineural steroid injection and oral pregabalin were administered. At the 1-month follow-up, more than 80% of the sensory symptoms had resolved, and the results of the sensory nerve conduction study and ultrasound showed improvement. Although massage-induced mononeuropathy is uncommon, massage therapy should be performed carefully to avoid complications.
Primary Mucosal Melanoma of the Stomach
Authors: O Phillips, A Higdon, R Colaco, H Fish
Journal: Case Rep Gastrointest Med (2018)
MeSH terms: Case Reports

Considered to be rare, mucosal melanomas are rare type of melanoma that are found on mucosal surfaces and are primary or metastatic in origin. We report a case of a 66-year-old Hispanic female who presented with vague abdominal pain and upon further endoscopic work-up revealed 2 gastric lesions. Endoscopic biopsy results revealed gastric melanoma in the distal lesion. A PET/CT scan indicated it to be suspicious for the primary site of metastasis but was ultimately diagnosed as a benign nevus on biopsy. An extensive clinical exam showed no other probable sites of origin. The patient underwent a subtotal Billroth II gastrectomy and enterostomy tube placement for temporary feeding. Primary melanoma of the stomach is an exceptionally rare occurrence with limited cases that can be accounted for in literature; thus we report this case for review.
Durable clinical benefit to trastuzumab and chemotherapy in a patient with metastatic colon adenocarcinoma harboring ERBB2 amplification
Authors: Umut Disel, Alexis Germain, Bahar Yilmazel, Huseyin Abali, Filiz Aka Bolat, Roman Yelensky, Julia A Elvin, Doron Lipson, Juliann Chmielecki, Kai Wang, Philip J Stephens, Jeffrey S Ross, Vincent A Miller, Siraj M Ali, Thomas J George Jr
Journal: Oncoscience (2015)
Keywords: erbb2, her2, colorectal adenocarcinoma, oxaliplatin, trastuzumab
MeSH terms: Case Reports

Somatic ERBB2 amplification or activating mutations occur in approximately 2-5% of metastatic colorectal adenocarcinomas and are presumed to be oncogenic drivers, but limited evidence exists to suggest these lesions are sensitive to targeted monotherapy in patients. Here we present the case of a patient with advanced CRC with pulmonary metastases, who had progressed on both standard of care cytotoxic chemotherapy and anti-EGFR targeted therapy. Comprehensive genomic profiling (FoundationOne(®)) identified amplification of ERBB2 and a TP53 mutation in the metastatic lesion. Treatment with trastuzumab with a chemotherapy backbone elicited stable disease/minor response in the patient over a one year course of therapy, reducing tumor burden and significantly improving quality of life. This report demonstrates the application of personalized targeted therapy guided by comprehensive genomic profiling in metastatic colorectal adenocarcinoma.
Case report: Fatal poisoning caused by additive effects of two barbiturates
Authors: Sella Takei, Hiroshi Kinoshita, Mostofa Jamal, Mitsuru Kumihashi, Tadayoshi Yamashita, Etsuko Tanaka, Sachiko Kawahara, Hiroko Abe, Kunihiko Tsutsui, Shoji Kimura
Journal: Front Pharmacol (2023)
Keywords: additive pharmacological effects, forensic toxicology, massive ingestion, pentobarbital, phenobarbital
MeSH terms: Case Reports

A case of fatal poisoning involving multiple psychotropic drugs is presented. Quantitative toxicological analysis showed femoral blood concentrations of pentobarbital, phenobarbital, duloxetine, acetaminophen and tramadol were 10.39, 22.57, 0.22, 0.61 and 0.22 μg/ml, respectively. We concluded that the death was due to the additive effects of two barbiturates. As both pentobarbital and phenobarbital act on gamma-aminobutyric acid (GABA) receptors, central nervous system activity was suppressed, causing respiratory depression. Additive pharmacological effects should be considered in cases of massive ingestion of multiple drugs.
Tocilizumab for the Treatment of Mevalonate Kinase Deficiency
Authors: Nadia K Rafiq, Helen Lachmann, Frodi Joensen, Troels Herlin, Paul A Brogan
Journal: Case Rep Pediatr (2018)
MeSH terms: Case Reports

Mevalonate kinase deficiency (MKD) is a severe autoinflammatory disease caused by recessive mutations in MVK resulting in reduced function of the enzyme mevalonate kinase, involved in the cholesterol/isoprenoid pathway. MKD presents with periodic episodes of severe systemic inflammation, poor quality of life, and life-threatening sequelae if inadequately treated. We report the case of a 12-year-old girl with MKD and severe autoinflammation that was resistant to IL-1 and TNF-α blockade. In view of this, she commenced intravenous tocilizumab (8 mg/kg every 2 weeks), a humanised monoclonal antibody targeting the IL-6 receptor (IL-6R) that binds to membrane and soluble IL-6R, inhibiting IL-6-mediated signaling. She reported immediate cessation of fever and marked improvement in her energy levels following the first infusion; after the fifth dose, she was in complete clinical and serological remission, now sustained for 24 months. This is one of the first reported cases of a child with MKD treated successfully with tocilizumab and adds to the very limited experience of this treatment for MKD. IL-6 blockade could therefore be an important addition to the armamentarium for the treatment of this rare monogenic autoinflammatory disease.
Presenting a case of a mucinous adenocarcinoma of an exstrophic bladder in an adult patient and a review of literature
Authors: Giovanni Di Lauro, Fabrizio Iacono, Antonio Ruffo, Leo Romis, Salvatore Mordente, Umberto Pane, Ester Illiano, Giuseppe Romeo, Domenico Prezioso, Bruno Amato
Journal: BMC Surg (2013)
MeSH terms: Adenocarcinoma, Mucinous / complications, Bladder Exstrophy / complications, Urinary Bladder Neoplasms / complications, Case Reports, Review, Humans, Male, Middle Aged

Background:
Bladder exstrophy occurs in approximately 1 in 35,000 live births and is associated with an increased incidence of bladder cancer.
Case presentation:
A 55-year old male patient was diagnosed with a primary mucinous adenocarcinoma of an unreconstructed exstrophic bladder. Examination of the entire gastrointestinal tract shown there were not other primary cites. Immunohistochemistry confirmed the nature of the tumour. The patient underwent a radical cystoprostatectomy with en block bilateral pelvic lymphadenectomy, urinary diversion with a cutaneous ureterostomy and epidpadias repair.
Conclusion:
Adult bladder exstrophy and epispadia correction is a very rare practice in urology due the fact that this congenital disease is diagnosed and corrected in neonates. We advocate the radical surgical management, after exclusion of any primary malignant sites related to the gastrointestinal tract.
Amalgam tattoo: a cause of sinusitis?
Authors: José Luiz Santos Parizi, Gisele Alborghetti Nai
Journal: J Appl Oral Sci (2010)
MeSH terms: Dental Amalgam / adverse effects, Mouth Diseases / complications, Pigmentation Disorders / complications, Sinusitis / etiology, Case Reports, Chronic Disease, Female, Foreign Bodies / complications, Foreign Bodies / pathology, Giant Cells / pathology, HLA-DR Antigens / analysis, Humans, Lymphocytes / pathology, Middle Aged, Mouth Diseases / diagnosis, Phagocytosis / physiology, Pigmentation Disorders / diagnosis, HLA-DR Antigens, Dental Amalgam

Little attention has been paid to the toxicity of silver amalgam fillings, which have been used over the centuries in Dentistry. Amalgam particles may accidentally and/or traumatically be embedded into the submucosal tissue during placement of a restoration and perpetuate in such area. This article presents a case of amalgam tattoo and investigates whether it is related to the patient's repeated episodes of sinusitis. The patient was a 46-year-old woman with a 2 mm diameter radiopaque lesion in the right oral mucosa detected on a panoramic radiograph and presented as a black macula clinically. A complete surgical resection was carried out. The histopathological examination revealed deposits of dark-brownish pigments lining the submucosal tissue with adjacent lymphocytic inflammatory infiltrate and multinucleated giant cells phagocyting pigments. There was a negative staining for both iron and melanin. One year after lesion removal, the patient reported that the sinusitis crises had ceased after repeated episodes for years. It may be speculated that the inflammatory process related to amalgam tattoo seems to lead to a local immune response that causes sinusitis because it enhances the human leukocyte antigen DR (HLA-DR) tissue expression.
Broken File Retrieval in the Lower Right First Molar Using an Ultrasonic Instrument and Endodontic Micro Forceps
Authors: Ratna Meidyawati, Endang Suprastiwi, Hasti Dwi Setiati
Journal: Case Rep Dent (2019)
MeSH terms: Case Reports

Broken files affect cleaning, shaping, and filling processes of the root canal, thereby causing maintenance failure. Objective. This report explains how to remove broken files using ultrasonic instruments and endodontic micro forceps. Case Report. A 25-year-old female patient had incomplete root canal treatment at the lower right first molar 1 week ago. There were radiolucency in the bifurcation and apical root and the presence of broken files in the 1/3 coronal mesiolingual root. The retrieval started by making a staging platform with an ET20 ultrasonic tip. Endodontic micro forceps were used including a screw wedge that works by clamping the file fragments through a mechanical lock and pulling them to the coronal. Conclusion. It is possible to successfully remove broken files from the root canal using ultrasonic instruments and endodontic micro forceps.
Extreme Peripheral Blood Plasmacytosis Mimicking Plasma Cell Leukemia as a Presenting Feature of Angioimmunoblastic T-Cell Lymphoma (AITL)
Authors: Kelsey Sokol, Saritha Kartan, William T Johnson, Onder Alpdogan, Neda Nikbakht, Bradley M Haverkos, Jerald Gong, Pierluigi Porcu
Journal: Front Oncol (2019)
Keywords: ebv, angioimmunoblastic t-cell lymphoma, follicular helper t-cell, plasma cell leukemia, plasmacytosis
MeSH terms: Case Reports

Angioimmunoblastic T-cell lymphoma (AITL) is one of four major subtypes of nodal peripheral T cell lymphoma, characterized by its cell of origin, the follicular helper T-cell (TFH). Patients typically present with prominent constitutional (B) symptoms, generalized lymphadenopathy, hepatosplenomegaly, cytopenias, and rash. Here we present a case of a 62-year-old male with progressive cervical adenopathy, fevers and weight loss presenting with extreme polyclonal plasmacytosis and high plasma EBV viral load. While the initial presentation appeared to mimic plasma cell leukemia or severe infection, lymph node biopsy and bone marrow biopsy confirmed a diagnosis of AITL. This case highlights the heterogeneity of the clinical presentation of AITL to enable physicians to more promptly recognize, diagnose and initiate treatment.
Cheilitis glandularis: two case reports of asian-Japanese men and literature review of Japanese cases
Authors: Toru Yanagawa, Akira Yamaguchi, Hiroyuki Harada, Kenji Yamagata, Naomi Ishibashi, Masayuki Noguchi, Kojiro Onizawa, Hiroki Bukawa
Journal: ISRN Dent (2011)
MeSH terms: Case Reports

Cheilitis glandularis (CG) is a rare disorder characterized by swelling of the lip with hyperplasia of the labial salivary glands. CG is most frequently encountered in the lower lip, in middle-aged to older Caucasian men; however Asian cases were rarely reported. In this paper we present two cases of CG in Asian-Japanese men. One was a 23-year-old male with CG of the superficial suppurative type. The other was a 54-year-old male with deep suppurative type. We also reviewed the Japanese cases of CG in the literature and discussed about clinical feature of Japanese CG.
Bilateral Choroidal Detachment Induced by Unilateral Application of a Fixed Combination of Topical Timolol Maleate and Brinzolamide
Authors: Oya Donmez, Hilal Kilinc, Zeynep Ozbek, Ali Osman Saatci
Journal: Med Hypothesis Discov Innov Ophthalmol (2016)
Keywords: acetazolamide, brinzolamide, choroidal detachment, phacoemulsification, timolol maleate, visante
MeSH terms: Case Reports

We describe a 66-year-old man who developed bilateral choroidal detachment that was induced by unilateral topical administration of a fixed combination of 1% brinzolamide and 0.5% timolol maleate the day after an uneventful phacoemulsification surgery and intraocular lens implantation involving his right eye. We believe that the reaction was an idiosyncratic reaction, most likely against brinzolamide. The condition improved rapidly after the cessation of the fixed combination of brinzolamide and timolol maleate and treatment with 1% topical prednisolone acetate every hour and 1% cyclopentolate twice a day bilaterally. Although there are several similar cases involving choroidal detachment after oral acetazolamide and topical dorzolamide treatment mentioned in the literature, the present case is the first case report involving bilateral choroidal detachment after topical treatment with brinzolamide.
Neisseria meningitidis serogroup W(P1.5-2) sepsis presenting with myopericarditis in an elderly previously healthy male
Authors: Michael Platten, Layth Aladellie
Journal: IDCases (2021)
Keywords: duodenal perforation, myopericarditis, neisseria meningitidis, prophylaxis
MeSH terms: Case Reports

A rare complication of Neisseria meningitidis is pericarditis. Here a 74-year-old male with Neisseria meningitidis serogroup W(P1.5-2) presented with myopericarditis. The patient developed cardiac tamponade and a pericardiocentesis was subsequently performed. The patient also developed a duodenal perforation, possibly secondary to the stress from being critically ill. The patient fully recovered.