OpenMed/multicare-articles huggingface dataset:
Primary Diffuse Large B-Cell Lymphoma Localized to the Lacrimal Sac: A Case Presentation and Review of the Literature
Authors: Kevin Zarrabi, Ved Desai, Brandom Yim, Theodore G Gabig
Journal: Case Rep Hematol (2016)

We report a rare case of diffuse large B-cell lymphoma (DLBCL) of the lacrimal sac in a 50-year-old male. The incidence of primary ocular lymphoma is low and it is considered a rare disease. Moreover, reports of ocular DLBCL are uncommon and the disease remains poorly characterized. Our patient presented for management of osteomyelitis and was incidentally found to have a painless swelling and cyst around his right eye. A PET/CT scan revealed hypermetabolic activity within the lacrimal sac and a subsequent excisional biopsy of the mass yielded histopathology consistent with DLBCL. Consequently, the patient underwent treatment with R-CHOP therapy. The patient responded well to chemotherapy with a substantial shrinkage in tumor burden and the disease remained localized. Herein, we present a rare case of primary ocular lymphoma, highlight the importance of early diagnosis, and review current treatment modalities.
Tacrolimus toxicity in islet transplantation due to interaction with macrolides
Authors: Kitty Kit-Ting Cheung, Peter Alexander Senior
Journal: Clin Diabetes Endocrinol (2016)
Keywords: adverse drug interaction, clarithromycin, islet cell transplant, tacrolimus, type 1 diabetes
MeSH terms: Case Reports

Background:
Drug interactions are an important risk in transplant patients. Case presentation: This case describes an incident where a patient with islet transplantation, who was using tacrolimus as part of the immunosuppressant regime, was started on a course of clarithromycin and experienced nephrotoxicity and neurotoxicity. He was an outpatient at that time and was managed with temporary cessation of tacrolimus until the tacrolimus level returned to target and his symptoms resolved. He recovered well and was resumed on his usual dosage of tacrolimus to prevent rejection of islets.
Conclusion:
Care should be taken with commonly used antibiotics to avoid potentially dangerous interactions with immunosuppressant drugs.
Chronic recurrent multifocal osteomyelitis causing an acute scoliosis
Authors: Alexander Armstrong, Neil Upadhyay, Edward Saxby, Damian Pryce, Nick Steele
Journal: Case Rep Pediatr (2013)

Study Design. A Case Report. Objective. We present a 15-year-old girl with an acute atypical scoliosis secondary to chronic recurrent multifocal osteomyelitis (CRMO). Summary of Background Data. CRMO is a rare nonpyogenic inflammatory bone condition with unclear aetiology. CRMO mainly affects the metaphyses of long bones, the pelvis, shoulder girdle, and less commonly the spine. Methods. Our case presented with a 6-month history of worsening thoracic back pain, asymmetry of her shoulders and abnormal posture. Whole spine radiographs revealed a right atypical thoracic scoliosis. Magnetic Resonance Imaging showed abnormal signal on the short TI inversion recovery (STIR) sequences in multiple vertebrae. A bone biopsy demonstrated evidence of fibrosis and chronic inflammatory changes. Interval MRI scans revealed new oedematous lesions and disappearance of old lesions. Symptoms improved. Results. It is important to consider CRMO as an acute cause of atypical scoliosis. Malignancy, pyogenic infections and atypical presentations of juvenile arthritis need excluding. Conclusion. This 24-month follow-up describes a rare cause of an atypical scoliosis and fortifies the small amount of the currently available literature. The case highlights the relapsing and remitting nature of CRMO with new lesions developing and older lesions burning out. We advise close radiological surveillance and symptomatic management.
Sepsis caused by emphysematous pyelonephritis: A case report
Authors: Zheng Yang, Zhihui Li
Journal: Front Med (Lausanne) (2023)
Keywords: case report, diabetes, emphysematous pyelonephritis (epn), infection, sepsis
MeSH terms: Case Reports

Purpose:
Emphysematous pyelonephritis (EPN) is a rare, life-threatening necrotizing renal parenchymal infection. It is most commonly reported in patients with poor glycemic control.
Patient concerns:
We report the case of a 64-year-old woman who presented to the emergency room with fever and weakness over the last few days.
Diagnosis:
After a series of tests in the diagnostic workup, the patient was diagnosed with emphysematous pyelonephritis and sepsis.
Intervention and outcome:
She received conservative treatment with meropenem and symptomatic treatment, and the symptoms improved significantly.
Lessons:
EPN can be reliably diagnosed using non-contrast abdominal CT imaging. The infection is most commonly caused by the Escherichia coli species, and a good curative effect can be achieved with early diagnosis and appropriate and timely treatment.
Nonunion Humerous Fracture Infection Caused by Rhizobium radiobacter in a 24-Year-Old Healthy Patient: A Rare Case Report
Authors: Aikaterini Stamou, Charalampos Pavlopoulos, Stefanos Roumeliotis, Efthymios Samoladas, Ippokratis Xatzokos, Konstantina Kontopoulou
Journal: Case Rep Infect Dis (2018)
MeSH terms: Case Reports

Although Rhizobium radiobacter is a pathogen commonly found in soil and plants, human disease caused by the Rhizobium genus is rare and cited in immunocompromised patients and in those who carry foreign plastic bodies such as catheters. We present a case of a 24-year-old woman with an adequate immune system who underwent surgery for an open fracture of the right tibia and humerus due to a car accident. One year later, she was readmitted to the hospital, due to a nonunion of the humeral fracture for surgical debridement and revision of the internal fixation with iliac crest autograft. Rhizobium radiobacter was isolated from the nonunion site, and the patient was treated with intramuscular administration of amikacin for 3 weeks followed by doxycycline per os for 8 weeks. After 3 months, the patient showed complete remission of the infection, substantial improvement, and union on the X-ray images. This is the first case of Rhizobium radiobacter infection in a patient with an adequate immune system that did not carry any foreign body and probably was initially infected due to open wound exposure to soil. Treatment of R. radiobacter infections should be individualised according to the antimicrobial susceptibility test for a successful infection management.
Germline BAP1 Mutation in a Family With Multi-Generational Meningioma With Rhabdoid Features: A Case Series and Literature Review
Authors: Rahul N Prasad, Ulysses G Gardner, Alexander Yaney, Daniel M Prevedello, Daniel C Koboldt, Diana L Thomas, Elaine R Mardis, Joshua D Palmer
Journal: Front Oncol (2021)
Keywords: adjuvant radiation therapy, biallelic bap1 inactivation, cancer screening, familial bap1 tumor predisposition syndrome, germline genetic testing, meningioma with rhabdoid features, rhabdoid meningioma, tumor sequencing

Meningioma is the most common primary brain tumor, and recurrence risk increases with increasing WHO Grade from I to III. Rhabdoid meningiomas are a subset of WHO Grade III tumors with rhabdoid cells, a high proliferation index, and other malignant features that follow an aggressive clinical course. Some meningiomas with rhabdoid features either only focally or without other malignant features are classified as lower grade yet still recur early. Recently, inactivating mutations in the tumor suppressor gene BAP1 have been associated with poorer prognosis in rhabdoid meningioma and meningioma with rhabdoid features, and germline mutations have been linked to a hereditary tumor predisposition syndrome (TPDS) predisposing patients primarily to melanoma and mesothelioma. We present the first report of a familial BAP1 inactivating mutation identified after multiple generations of a family presented with meningiomas with rhabdoid features instead of with previously described BAP1 loss-associated malignancies. A 24-year-old female presented with a Grade II meningioma with rhabdoid and papillary features treated with subtotal resection, adjuvant external beam radiation therapy, and salvage gamma knife radiosurgery six years later. Around that time, her mother presented with a meningioma with rhabdoid and papillary features managed with resection and adjuvant radiation therapy. Germline testing was positive for a pathogenic BAP1 mutation in both patients. Sequencing of both tumors demonstrated biallelic BAP1 inactivation via the combination of germline BAP1 mutation and either loss of heterozygosity or somatic mutation. No additional mutations implicated in oncogenesis were noted from either patient's germline or tumor sequencing, suggesting that the inactivation of BAP1 was responsible for pathogenesis. These cases demonstrate the importance of routine BAP1 tumor testing in meningioma with rhabdoid features regardless of grade, germline testing for patients with BAP1 inactivated tumors, and tailored cancer screening in this population.
Safety and efficacy of the combination of T-DM1 with radiotherapy of the central nervous system in a patient with HER2-positive metastatic breast cancer: case study and review of the literature
Authors: Giuliano Santos Borges, Rodrigo Kraft Rovere, Stéphanie Mereniuk Kappel Dias, Fernando Henrique Chong, Mayara Dos Santos Morais
Journal: Ecancermedicalscience (2015)
Keywords: her2-positive, tdm1, breast cancer, radiotherapy
MeSH terms: Case Reports

Approximately 35% of patients with confirmed HER2 breast cancer progress to metastases of the central nervous system (CNS). Total cerebral radiotherapy is considered as standard treatment for these cases; however, studies have shown that some chemotherapy drugs can be used during radiotherapy without significantly increasing its toxicity. In this article, we report the case of a patient with HER2-positive breast cancer who showed isolated progression of the illness in the CNS, which was observed during the treatment period using T-DM1 concomitantly with radiotherapy of the CNS without apparent toxicity of the combination and keeping the illness controlled. Through a review of the literature on the use of radiotherapy and chemotherapy with T-DM1 for the treatment of cerebral metastases in HER2-positive breast cancer, we describe the efficacy and tolerance of the concomitant application of these treatments.
Gain-of-function STAT1 mutation and visceral leishmaniasis
Authors: Paula Teixeira Lyra, Ana Carla Augusto Moura Falcão, Rafael Amora Cruz, Antonio Victor Campos Coelho, Edvaldo da Silva Souza, Luiz Claudio Arraes de Alencar, João Bosco Oliveira
Journal: Einstein (Sao Paulo) (2022)
MeSH terms: Candidiasis, Chronic Mucocutaneous / complications, Candidiasis, Chronic Mucocutaneous / genetics, Leishmaniasis, Visceral / complications, Leishmaniasis, Visceral / diagnosis, Leishmaniasis, Visceral / genetics, Case Reports, Child, Child, Preschool, Gain of Function Mutation, Humans, Male, Mutation, STAT1 Transcription Factor / genetics, STAT1 Transcription Factor, STAT1 protein, human

Gain-of-function mutations in the STAT1 gene have been initially associated with chronic mucocutaneous candidiasis. However, further research has shown that STAT1 GOF variants may increase susceptibility to infection by other intracellular pathogens. This report describes the first case of disseminated leishmaniasis associated with a STAT1 GOF mutation in a pediatric patient who did not have chronic mucocutaneous candidiasis. The patient was a four-year-old boy presenting with fever, severe asthenia, hepatosplenomegaly, pancytopenia, and liver failure. Bone marrow aspirate revealed hemophagocytosis and Leishmania parasites. Treatment consisted primarily of liposomal amphotericin B, as per the Hemophagocytic Lymphohistiocytosis 2004 protocol. After eight weeks of treatment, the patient did not improve and was submitted to diagnostic splenectomy. Activated macrophages and nodular spleen necrosis secondary to the visceral leishmaniasis were detected. Unfortunately, the patient died in the second week after splenectomy due to overwhelming systemic infection. DNA sequencing revealed a pathogenic (p. R274Q) GOF mutation in STAT1.
Laparoscopic Retrieval of a 13-Year-Old Retained Iatrogenic Metallic Foreign Body from the Pelvis: An Uncommon Case Report
Authors: Deepak Rajput, Amit Gupta, Sruthi Shasheendran, Rishit Mani, Amoli Tandon, Shyam Karuppusamy Krishnasamy, Rohik Anjum T Siddeek, Krishna Sai Bhukya, Sanketh Edem
Journal: Surg J (N Y) (2023)
Keywords: case report, hysterectomy, laparoscopic removal, retained surgical item
MeSH terms: Case Reports

Retained surgical foreign bodies are unanticipated events culminating from inadvertent operating room errors and may cause severe medical and legal problems between the patient and the doctor. Here, we report detecting a surgical instrument fragment 13 years after an open abdominal hysterectomy in a quadragenarian during her evaluation of a month-old complaint of lower abdominal and right thigh pain. A computed tomography scan of the abdomen demonstrated a radio-opaque linear foreign body traversing the right obturator foramen with extension into the pelvis cranially and the adductor compartment of the right thigh caudally. The metallic foreign body, identified as a fragmented handle of a uterine tenaculum forceps with a slender sharp-tip hook, could be removed laparoscopically from the pelvis after a diagnostic laparoscopy, preventing significant complications. The minimally invasive approach enabled a smooth recovery, and the patient could go home on the second postoperative day.
Fournier's Gangrene Complicating Hematologic Malignancies: a Case Report and Review of Licterature
Authors: Giovanni D'Arena, Giuseppe Pietrantuono, Emilio Buccino, Giancarlo Pacifico, Pellegrino Musto
Journal: Mediterr J Hematol Infect Dis (2013)
MeSH terms: Case Reports

Fournier's gangrene (FG) is a rare but severe necrotizing fasciitis of the external genitalia that may complicate the clinical course of hematologic malignancies and sometimes may be the first sign of the disease. The clinical course of FG is very aggressive and the mortality is still high despite the improvement in its management. Early recognition of FG and prompt appropriate treatment with surgical debridement and administration of antibiotics are the cornerstone of the management of this very severe disease. A review of the scientific literature focusing on the topic of FG complicating hematologic disorders is reported.
Leiomyosarcoma of scrotum: case report
Authors: Tariq Bouhout, Badr Serji, Ebo Usman Egyir, Benyounes El Amri, Imad Bouhout, Mehdi Soufi, Mohammed Bouziane, Tijani El Harroudi
Journal: Pan Afr Med J (2018)
Keywords: scrotum, wide excision, leiomyosarcoma
MeSH terms: Genital Neoplasms, Male / diagnosis, Leiomyosarcoma / diagnosis, Scrotum / pathology, Case Reports, Genital Neoplasms, Male / pathology, Genital Neoplasms, Male / surgery, Humans, Leiomyosarcoma / pathology, Leiomyosarcoma / surgery, Male, Middle Aged, Scrotum / surgery

Scrotal leiomyosarcoma is rare tumor. It presents as a painless, slow-growing cutaneous lesion. It's often mistaken for a benign condition. It is best treated by wide local excision. A case of scrotum leiomyosarcoma is presented in a 63 year old patient who was treated for the first time as having a benign lesion.
Adolescent Acute Pancreatitis Complicated With Pseudoaneurysms and Venous Thrombosis
Authors: Soichiro Wada, Sasagu Matsumoto, Shuji Sai, Yoshiyasu Ambo, Yasuo Sakurai
Journal: Cureus (2023)
Keywords: acute necrotizing pancreatitis, false aneurysms, hemorrhagic shock, pancreatectomy, venous thrombosis
MeSH terms: Case Reports

Vascular complications, such as pseudoaneurysms and thrombosis, are uncommon in pediatric acute pancreatitis (AP); hence, treatment experience remains limited. Here, we report a case of adolescent AP complicated with pseudoaneurysms and venous thrombosis simultaneously. Even after multiple endovascular embolizations for pseudoaneurysms, the patient experienced hemorrhagic shock resulting from pseudoaneurysm rupture after taking anticoagulants for thrombus. Inevitably, a total pancreatectomy was performed to prevent bleeding and control local complications. In AP, even among the pediatric population, a therapeutic dilemma between bleeding prevention and anticoagulation for thrombosis may occur. Despite the lack of experience with AP and its complications, a total pancreatectomy may become an alternative therapy for refractory AP or its complications.
Double primary malignant fibrous histiocytoma and squamous cell carcinoma of the larynx treated with laser laryngeal conservation surgery
Authors: P D Karkos, S Dova, S Sotiriou, K Markou, I Kostopoulos
Journal: Ecancermedicalscience (2016)
Keywords: fibrous histiocytoma, larynx, laser, squamous cell carcinoma
MeSH terms: Case Reports

Βackground:
Synchronous multiple malignancies of the larynx are rare. We present a case here of synchronous primary laryngeal squamous cell carcinoma (SCC) and malignant fibrous histiocytoma (MFH) in a patient with hoarseness though with no history of exposure to radiation. Clinical, intraoperative, and histopathological findings in this patient are discussed.
Methods:
Wide laser excision of the left supraglottic lesion and laser cordectomy of the right true vocal cord were performed.
Results:
The patient presented with a recurrence of the ΜFH alone (with no recurrence of the SCC) two months after the first operation and was managed with an extended second look laser cordectomy. The patient is under regular follow-up and remained disease-free nine months from diagnosis.
Conclusions:
Our results show that early-stage simultaneous tumours of the larynx and particularly MFH and SCC can be treated efficiently with endoscopic laryngeal surgery alone. Close follow-up is of paramount importance because of the aggressive nature of MFH.
Sarcina ventriculi in an Endoscopic Ultrasound-Guided Fine Needle Aspiration of a Perigastric Lymph Node with Metastatic Pancreatic Adenocarcinoma: A Carry-Through Contaminant Bacterial Microorganism from the Stomach
Authors: Bharat Nandakumar, Diva R Salomao, Nicholas A Boire, Audrey N Schuetz, Charles D Sturgis
Journal: Case Rep Pathol (2021)
MeSH terms: Case Reports

Sarcina ventriculi is a rare gram-positive coccus increasingly reported in patients with a history of delayed gastric emptying or gastric outlet obstruction and is sometimes seen in association with emphysematous gastritis and perforation. We report a case of a 67-year-old male who presented with epigastric pain. CT imaging and cholangiopancreatography were concerning for pancreatic neoplasia. Upper endoscopic ultrasound-guided fine needle aspiration cytology of a perigastric lymph node confirmed metastatic adenocarcinoma of pancreatic origin, and cocci arranged in a tetrad fashions characteristic of Sarcina ventriculi were noted. To our knowledge, this is the first reported case of Sarcina ventriculi in an FNA of metastatic pancreatic carcinoma in a perigastric lymph node. These organisms likely represent carry-through contaminants from the transgastric approach of the endoscopic FNA.
Use of Successive Pharmacologic Hormone Suppression Testing for a Severe Presentation of Adolescent Polycystic Ovarian Syndrome: A Case Report
Authors: Sonalee Jaya Ravi, Melanie Cree-Green
Journal: J Investig Med High Impact Case Rep (2019)
Keywords: pcos, adolescence, hirsutism, late-onset congenital adrenal hyperplasia
MeSH terms: Hyperandrogenism / diagnosis, Polycystic Ovary Syndrome / diagnosis, Polycystic Ovary Syndrome / drug therapy, Case Reports, Research Support, N.I.H., Extramural, Child, Contraceptives, Oral / administration & dosage, Estrogens / administration & dosage, Female, Hirsutism / etiology, Humans, Hyperandrogenism / complications, Hyperandrogenism / physiopathology, Insulin Resistance, Menstruation Disturbances, Polycystic Ovary Syndrome / complications, Spironolactone / administration & dosage, Virilism / etiology, Contraceptives, Oral, Estrogens, Spironolactone

Background:
Pathological causes of acne and hirsutism include polycystic ovarian syndrome (PCOS), congenital adrenal hyperplasia, and adrenal or ovarian tumors. PCOS is largely a clinical diagnosis and often simple laboratory testing can rule out more severe pathology. In more severe cases, determination of the correct diagnosis can require hormone suppression testing. In this article, we present a full sequence of hormone suppression testing and workup necessary to arrive at the ultimate diagnosis.
Case presentation:
A 12-year-old normal weight (body mass index = 29th percentile), premenarchal female with Tanner III breast, Tanner V pubic hair presented with a 2.5-year history of severe hirsutism (Ferriman-Gallwey Score of 22), clitoromegaly, and deep voice. Successive hormone suppression and testing (ACTH stimulation testing, ovarian and adrenal imaging, dexamethasone-suppressed ACTH stimulation testing, and oral contraceptive therapy) was necessary to rule out congenital adrenal hyperplasia or a tumor and confirm PCOS. Metabolic testing, completed only after diagnosing PCOS, demonstrated insulin resistance.
Conclusions:
This patient had an extreme presentation of a common disorder. Her premenarchal status, elevated androgens, and virilization raised concern for non-PCOS pathology requiring sequential pharmacological hormone suppression testing and imaging for accurate diagnosis and appropriate treatment. The testing presented here is not novel, but we present the full sequence of testing and clinical results. This full sequence is rarely necessary for accurate diagnosis given clinical presentation and initial evaluation and, therefore, to our knowledge, has not been published. All providers caring for patients with PCOS should be familiar with this testing and its interpretation for severe cases that warrant extra attention.
Presentation of a case of Bruton type primary agammaglobulinemia in Guinea
Authors: Kaba Condé, Hugues Ghislain Atakla, Mamadou Ciré Barry, Mohamed Lamine Condé, Malé Doré
Journal: Pan Afr Med J (2020)
Keywords: agammaglobulinemia, burton’s disease, guinea, immunoglobulins
MeSH terms: Agammaglobulinemia / diagnosis, Genetic Diseases, X-Linked / diagnosis, Case Reports, Abscess / diagnosis, Abscess / etiology, Abscess / pathology, Acute Disease, Agammaglobulinemia / complications, Agammaglobulinemia / immunology, Arthritis, Juvenile / diagnosis, Arthritis, Juvenile / etiology, Arthritis, Juvenile / pathology, Child, Preschool, Genetic Diseases, X-Linked / complications, Genetic Diseases, X-Linked / immunology, Guinea, Humans, Immunoglobulins / analysis, Immunoglobulins / blood, Immunophenotyping, Male, Otitis Media / diagnosis, Otitis Media / etiology, Otitis Media / pathology, Perineum / pathology, Recurrence, Immunoglobulins, Bruton type agammaglobulinemia

X-linked agammaglobulinemia (XLA) is a rare genetic disease caused by a mutation in the Bruton tyrosine kinase (BTK) gene. It is characterized by a profound deficiency of B cells and a decrease in all classes of immunoglobulins (Ig). We report one case in a 3-year-old boy seen for recurrent acute otitis media, perineal abscess, oligoarthritis. The serum immunoglobulin (Ig) assay showed an IgG level of 0.6g/l. IgM and IgA are indosable. Marrow immunophenotyping showed an absence of precursor B less than 1%. Molecular biology confirmed Burton's disease (stop mutation, C37C) in exon 2 of the BTK gene. Treatment with intravenous immunoglogulin was started.