OpenMed/multicare-articles huggingface dataset:
IPEX Syndrome with Normal FOXP3 Protein Expression in Treg Cells in an Infant Presenting with Intractable Diarrhea as a Single Symptom
Authors: Ali Al Maawali, Beata Derfalvi, Johan Van Limbergen, Andrew Issekutz, Thomas Issekutz, Hasan Ghandourah, Mohsin Rashid
Journal: Case Reports Immunol (2020)
MeSH terms: Case Reports

IPEX (immune dysregulation-polyendocrinopathy-enteropathy-X-linked) syndrome is a rare, potentially fatal multisystem disorder caused by mutations in the FOXP3 gene. This can lead to quantitative or functional deficiency of regulatory T cells (Treg), thereby affecting their immune-suppressive actions which can in turn cause autoimmune and inflammatory disorders. We describe an infant with IPEX syndrome with unremarkable maternal family history whose only presentations were severe diarrhea and malnutrition. The patient had a normal percentage of Treg cells and FOXP3 protein expression, but further testing revealed a hemizygous missense mutation in the FOXP3 gene. IPEX syndrome should be considered in young children even if severe intractable diarrhea is the only symptom with no other autoimmune manifestations. Sequencing of the FOXP3 gene should always be considered for accurate diagnosis to look for mutations even in the face of normal FOXP3 protein expression in the Treg cell.
Lung Recurrence of Papillary Thyroid Cancer Diagnosed With Antithyroglobulin Antibodies After 10 Years From Initial Treatment
Authors: David Viola, Laura Agate, Eleonora Molinaro, Valeria Bottici, Loredana Lorusso, Francesco Latrofa, Liborio Torregrossa, Laura Boldrini, Teresa Ramone, Paolo Vitti, Rossella Elisei
Journal: Front Endocrinol (Lausanne) (2018)
Keywords: braf mutation, tgab, lymphocytic thyroiditis, recurrence, thyroid cancer (tc)
MeSH terms: Case Reports

Introduction: Papillary thyroid cancer (PTC) is the most common endocrine malignancy. More than 98% of patients achieve an excellent response with no evidence of clinical, biochemical, or structural disease after initial treatment. In these patients structural recurrence is rare, more frequently diagnosed in the first 5 years from initial treatment and almost invariably localized in neck lymph nodes. Patient: We report the case of a woman affected by PTC who presented with rapidly rising anti-thyroglobulin antibodies (TgAb) level after 10 years from clinical, morphological and biochemical remission. Diagnosis and Treatment: In 2003, a 56 year old patient was treated with total thyroidectomy and radioiodine remnant ablation (RRA) for a PTC (2 cm) with minimal extrathyroidal extension (T3N1aM0 according to the 6th AJCC TNM staging system) associated with diffuse lymphocytic thyroiditis. In 2004 the patient was free of disease defined as undetectable Tg after recombinant human TSH administration in the absence of TgAb and structural disease. Since February 2012 the appearance and progressive increase of TgAb titer was observed and in 2014 a 18FDG-PET scan documented three hypermetabolic lesions suggestive of lung micrometastases. The lung lesions were cytologically confirmed as PTC metastases. Both the primary tissue and the lung metastasis were positive for BRAF V600E mutation. The patient was treated with 131-radioiodine that showed radioiodine avid lung lesions that lose the ability to take up iodine at the following treatment. The patient is still alive and the lung lesions are growing slowly. Conclusions: Structural recurrence in patients that demonstrated an excellent response after initial treatment for PTC is extremely rare, and distant metastases exceptional but possible. This case is peculiar because recurrence was early identified after 10 years from initial treatment for the presence of detectable TgAb in a patient that had an histological diagnosis of lymphocytic thyroiditis but with an atypical clinical presentation (normal thyroid at neck ultrasound and undetectable TgAb and anti-thyroid peroxidase antibodies). For this reason TgAb should be tested with Tg in patients with a history of lymphocytic thyroiditis, either histological or humoral, also when TgAb is in the normal range and not suggestive of autoimmune thyroiditis.
A rare case of primary cardiac B cell lymphoma
Authors: Andreas Habertheuer, Marek Ehrlich, Dominik Wiedemann, Bruno Mora, Claus Rath, Alfred Kocher
Journal: J Cardiothorac Surg (2014)
MeSH terms: Heart Neoplasms / diagnosis, Lymphoma, Large B-Cell, Diffuse / diagnosis, Superior Vena Cava Syndrome / diagnosis, Case Reports, Aged, Female, Humans

Primary cardiac lymphomas represent an extremely rare entity of extranodal lymphomas and should be distinguished from secondary cardiac involvement of disseminated lymphomas belonging to the non-Hodgkin's classification of blood cancers. Only 90 cases have been reported in literature. Presentation of cardiac lymphomas on imaging studies may not be unambiguous since they potentially mimic other cardiac neoplasms including myxomas, angiosarcoma or rhadomyomas and therefore require multimodality cardiac imaging, endomyocardial biopsy, excisional intraoperative biopsy and pericardial fluid cytological evaluation to establish final diagnosis.Herein we report the case of a 70 y/o immunocompetent Caucasian female with a rapidly progressing superior vena cava syndrome secondary to a large primary cardiac diffuse large B cell lymphoma (NHL lymphoma) almost completely obstructing the right atrium, right ventricle and affecting both mitral and tricuspid valve. The patient had no clinical evidence of disseminated disease and was successfully treated with extensive debulking during open-heart surgery on cardiopulmonary bypass and 6 cycles of rituximab, cyclophosphamide, doxorubicin, vincristine and prednisone chemotherapy (R-CHOP).
Presence of Two Separate Hairy Polyps with Meningothelial Elements in a 15-Month-Old Child
Authors: Ahmad Saeed A Alghamdi, Nasser Almutairi, Ghassan Alokby
Journal: Case Rep Otolaryngol (2021)
MeSH terms: Case Reports

Hairy polyps are benign embryological tumors of the head and neck region that are derived from two germinal layers, the ectoderm and mesoderm. At an incidence of 1 : 40000, hairy polyps are considered rare growths. Presenting symptoms of hairy polyps can vary greatly depending on the size and location of the tumor. To the best of our knowledge, our reported case is the first in the literature to highlight an extremely rare occurrence of two separate hairy polyps being simultaneously present in one patient, in the clivus and the nasion, with the presence of meningothelial cells within both tumors, histopathologically. With surgical resection as the management of choice, the approach of surgery differs greatly depending on many factors. Since the patient in our reported case had a cleft palate, we used a combined transnasal and transoral approach to fully release the clival mass and a direct skin incision for the nasion mass. Recurrence after complete surgical resection is rare, and if happens, it should rise suspicion of histopathologically misdiagnosed tumor. We amplified the importance of advanced radiological investigations along with proper multidisciplinary teamwork to exclude CNS connections and other histologically malignant tumors and to early pick up a possible simultaneous lesion.
Clinical Outcome of Third-Line Pazopanib in a Patient with Metastatic Renal Cell Carcinoma
Authors: Michela Roberto, Maria Bassanelli, Elsa Iannicelli, Silvana Giacinti, Chiara D'Antonio, Anna Maria Aschelter, Paolo Marchetti
Journal: Case Rep Oncol Med (2015)

Background. Renal cell carcinoma accounts for about 2-3% of all malignant tumors. The prevalence of brain metastases from RCC is less than 20% of cases. Traditionally, whole brain radiotherapy as well as the latest stereotactic radiosurgery improves both survival and local tumor control. These treatments also allow stabilization of clinical symptomatology. However, validated treatment guidelines for RCC patients with brain metastases are not yet available on account of the frequent exclusion of such patients from clinical trials. Moreover, limited data about the sequential use of three therapies, changing the class of agent, have been published up to now. Case Report. We report the case of a patient with metastatic RCC who developed disease progression after sunitinib and everolimus as first-line and second-line therapy, respectively. Thus, he underwent a multimodality treatment with pazopanib, as third-line therapy, to control systemic disease and radiosurgery directed on the new brain metastasis. To date, the patient is still receiving pazopanib, with progression-free survival and overall survival of 43 and 103 months, respectively. Conclusion. In a context characterized by different emerging options, with no general consensus on the optimal treatment strategy, the use of pazopanib in pretreated patients could be a suitable choice.
Congenital Methemoglobinemia: First Confirmed Case in the Arab Population with a Novel Variant in the CYB5R Gene in the State of Qatar: A Case Report
Authors: Abdulrahman Al-Abdulmalek, Reem Al-Sulaiman, Mohammad Abu-Tineh, Mohamed A Yassin
Journal: J Blood Med (2023)
Keywords: arab, qatar, methemoglobinemia
MeSH terms: Case Reports

Methemoglobinemia (MetHb) is a rare hematological condition characterized by high methemoglobin levels in the blood. It happens when hemoglobin is oxidized, resulting in hypoxia and cyanosis, which may occur in inherited or acquired forms. Inherited or congenital methemoglobinemia is a rare autosomal recessive condition and has never been reported in the Arab population. Here we report a case of a 22-year-old Arab man with a positive family history who presented with bluish discoloration of the fingers and lips and was found to have methemoglobinemia. Genetic study on the patient and his family revealed compound heterozygous variants in the CYB5R3 Exon 5 c.431G>A p.Gly144Asp likely pathogenic variant and CYB5R3 Exon 9 c.871G>A p.Val291Met variant of unknown significance. We suggest that the novel c.871G>A p.Val291Met variant could be causative for methemoglobinemia.
A non-syndromic intellectual disability associated with a de novo microdeletion at 7q and 18p, microduplication at Xp, and 18q partial trisomy detected using chromosomal microarray analysis approach
Authors: Irene Plaza Pinto, Lysa Bernardes Minasi, Alex Silva da Cruz, Aldaires Vieira de Melo, Damiana Míriam da Cruz E Cunha, Rodrigo Roncato Pereira, Cristiano Luiz Ribeiro, Claudio Carlos da Silva, Daniela de Melo E Silva, Aparecido Divino da Cruz
Journal: Mol Cytogenet (2014)
Keywords: 18q partial trisomy, cma, intellectual disability, microdeletion, microduplication, mosaicism
MeSH terms: Case Reports

Background:
Chromosome abnormalities that segregate with a disease phenotype can facilitate the identification of disease loci and genes. The relationship between chromosome 18 anomalies with severe intellectual disability has attracted the attention of cytogeneticists worldwide. Duplications of the X chromosome can cause intellectual disability in females with variable phenotypic effects, due in part to variations in X-inactivation patterns. Additionally, deletions of the 7qter region are associated with a range of phenotypes.
Results:
We report the first case of de novo microdeletion at 7q and 18p, 18q partial trisomy, microduplication at Xp associated to intellectual disability in a Brazilian child, presenting a normal karyotype. Karyotyping showed any chromosome alteration. Chromosomal microarray analysis detected a de novo microdeletion at 18p11.32 and 18q partial trisomy, an inherited microdeletion at 7q31.1 and a de novo microduplication at Xp22.33p21.3.
Conclusions:
Our report illustrates a case that presents complex genomic imbalances which may contribute to a severe clinical phenotypes. The rare and complex phenotypes have to be investigated to define the subsets and allow the phenotypes classification.
Gastric diverticula as a diagnostic and therapeutic challenge: Case report and review of literature
Authors: Imen Akkari, Mohamed Hedi Mraiedha, Imen Jemni, Soumaya Mrabet, Fehmi Hamila, Ilhem Ben Jazia, Rached Letaief
Journal: Int J Surg Case Rep (2020)
Keywords: diverticula, dyspepsia, gastric diverticulectomy, laparoscopic gastric surgery
MeSH terms: Case Reports

Introduction:
Gastric diverticula are a rare condition characterized by a pouch protruding from the gastric wall. It is commonly asymptomatic and managed without surgery. Gastric diverticulotomy is indicated in the case of symptomatic or complicated diverticula.
Case:
The authors report the case of a 67 year-old man presenting with heartburn and dyspepsia with no response to proton pump inhibitors. The patient was diagnosed with a gastric diverticula and a little hiatal hernia, which was subsequently successfully treated with a laparoscopic gastric diverticulectomy and Nissen fundoplication.
Conclusion:
Gastric Diverticula have to be evoked in the absence of response of Gastro Esophageal Reflux Disease to therapy or in atypical symptoms. Laparoscopic resection of GD can be safe with resolution of symptoms.
Successful diagnosis and management of tuberculosis verrucosa cutis using antituberculosis therapy trial approach
Authors: Dina Pebriany, Anis Irawan Anwar, Widyawati Djamaludin, Anni Adriani, Safruddin Amin
Journal: Pan Afr Med J (2020)
Keywords: keywords
MeSH terms: Antitubercular Agents / administration & dosage, Interferon-gamma Release Tests, Tuberculosis, Cutaneous / diagnosis, Case Reports, Humans, Male, Middle Aged, Polymerase Chain Reaction, Treatment Outcome, Tuberculin Test, Tuberculosis, Cutaneous / drug therapy, Antitubercular Agents

Tuberculosis verrucosa cutis is a paucibacillary form of cutaneous tuberculosis that often occurs in sensitized immunocompetent individuals due to exogenous reinfection. The diagnosis is often difficult because the clinical features are often not typical and acid-fast staining test often shows negative results. Therapeutic trial with antituberculosis therapy is justified if there is strong clinical suspicion in which diagnosis can be made based on the therapeutic response. We report a 46-year-old male with erythematous verrucous plaque on the right knee and crusted erythematous plaque on the left dorsal foot that had been present for 20 years. There were neither history of previous trauma nor tuberculosis treatment. Histopathology, culture, polymerase chain reaction (PCR), Mantoux test, and chest radiograph were negative for cutaneous tuberculosis. Gamma release interferon assay showed positive result. The patient was given category 1 antituberculosis treatment and showed improvement after three weeks. Treatment was continued for 6 months and the lesion significantly regressed.
Efficacy of lenalidomide in association with cyclophosphamide and dexamethasone in multiple myeloma patient with bilateral retro-orbital localisation
Authors: S Felici, N Villivà, G Balsamo, A Andriani
Journal: Ecancermedicalscience (2013)
Keywords: extramedullary disease, lenalidomide, multiple myeloma, ocular involvement
MeSH terms: Case Reports

Extramedullary localisation is an uncommon manifestation in multiple myeloma (MM). Ocular involvement is rare. Here, we describe a relapse of MM with bilateral retro-orbital localisation without any bone involvement with good and rapid response to therapy with lenalidomide, dexamethasone, and cyclophosphamide.
Response to Plasmapheresis Measured by Angiogenic Factors in a Woman with Antiphospholipid Syndrome in Pregnancy
Authors: Karoline Mayer-Pickel, Sabine Horn, Uwe Lang, Mila Cervar-Zivkovic
Journal: Case Rep Obstet Gynecol (2015)

An imbalance of angiogenic and antiangiogenic placental factors such as endoglin and soluble fms-like tyrosine kinase 1 has been implicated in the pathophysiology of preeclampsia. Extraction of these substances by plasmapheresis might be a therapeutical approach in cases of severe early-onset preeclampsia. Case Report. A 21-year-old primigravida with antiphospholipid syndrome developed early-onset preeclampsia at 18 weeks' gestation. She was treated successfully with plasmapheresis in order to prolong pregnancy. Endoglin and sflt-1-levels were measured by ELISA before and after treatment. Endoglin levels decreased significantly after treatment (p < 0.05) and showed a significant decrease throughout pregnancy. A rerise of endoglin and sflt-1 preceded placental abruption 4 weeks before onset of incident. Conclusion. Due to the limited long-term therapeutical possibilities for pregnancies complicated by PE, plasmapheresis seems to be a therapeutical option. This consideration refers especially to pregnancies with early-onset preeclampsia, in which, after first conventional treatment of PE, prolongation of pregnancy should be above all.
Leptomeningeal Disease as a Rare Complication of Primary Penile Urethral Cancer
Authors: Nan Chen, Thomas Wheeler, Michael Coburn, Aihua Edward Yen
Journal: Case Rep Oncol Med (2020)
MeSH terms: Case Reports

Primary penile urethral cancer is a rare genitourinary malignancy arising from the epithelial lining of the urethra. Our patient is a 63-year-old male with newly diagnosed penile urethral carcinoma who presented with headache and was found to have leptomeningeal disease on imaging and cerebral spinal fluid analysis. He was treated with systemic and intrathecal chemotherapy with some response and improvement in symptoms. This is the first reported case of leptomeningeal disease as a complication of penile urethral carcinoma. Recognition and prompt treatment are important; however, overall prognosis of this entity remains poor.
Acute renal allograft dysfunction due to cecal volvulus: a case report
Authors: Sherry-Ann N Brown, Patrick G Dean, LaTonya J Hickson
Journal: Springerplus (2015)
Keywords: acute kidney injury, kidney transplant, ureteral obstruction, volvulus

Purpose:
Among kidney transplant recipients with acute kidney injury, the differential diagnosis must be broadened to include conditions such as rejection, immunocompromised host infections, anatomic pathologies, and recurrent or de novo glomerular diseases. In this case report, we describe an unusual cause of acute renal allograft injury due to external compression of the allograft ureter.
Methods:
Retrospective review; case report.
Results:
The patient developed acute kidney injury of the renal allograft due to external compression of the allograft ureter coincident with a cecal volvulus. The patient underwent lysis of adhesions, right hemicolectomy, and end ileostomy creation with resolution of acute kidney injury.
Conclusions:
Cecal volvulus is an uncommon cause of bowel obstruction and is often associated with adhesions following abdominal surgery. To our knowledge, cecal volvulus has not previously been reported as a direct contributor to acute kidney injury. This case highlights the need for a systematic approach to the patient with acute kidney injury and the special considerations involved in the diagnosis of renal failure in the kidney transplant population.
Clear Cell Renal Cell Carcinoma with a Ureteral Thrombus
Authors: Jeff John, Alessandro P Aldera, Sunil Sinha, John Lazarus
Journal: J Endourol Case Rep (2018)
Keywords: rcc, thrombus, tumor, ureter
MeSH terms: Case Reports

Introduction: Cancers of the kidney, arising from either the renal parenchymal tissue or the renal pelvis, is among the 13 commonest types of malignancy globally, accounting for between 3% and 4% of all newly diagnosed cancers. Renal cell carcinoma (RCC) accounts for 85% of all malignant renal neoplasms. We present a rare case of an RCC directly extending into the renal pelvicalyceal system and with a thrombus within the ureter. Case Presentation: A 39-year-old woman presented with a long-standing history of worsening left flank pain, intermittent visible hematuria, and a fullness in the left flank. Apart from an ill-defined left flank mass with pain on palpation, there was nothing remarkable on clinical examination. Contrast-enhanced abdominal CT scan images showed a large, heterogeneously enhancing soft tissue mass arising from the lower pole of the left kidney. The collecting system and the left proximal ureter were poorly visualized. A tentative diagnosis of RCC, cT3aN0M0 was made. Intraoperatively, we identified a large, left lower pole renal mass, displacing the pedicle superiorly. In addition, we found a bulky, dilated proximal ureter. A decision was made intraoperatively to proceed with radical nephrectomy and ureterectomy. Conclusion: We report a rare case of RCC directly invading from the renal pelvis and down the ureter as a thrombus mass, with no microscopic individual tumor implants in the ureter wall, invasion of the renal vein, or invasion of adjacent organs. To our knowledge, only four such cases have been reported in English literature, and as a result, very few theories explaining renal pelvic invasion and direct growth down the ureter have been postulated. This highlights the significance of adding invasion of the pelvicalyceal system as part of the most recent, updated tumor node metastases classification. In future, consideration needs to be given to include the extension of RCC into the ureter and/or bladder.
Robot-assisted enucleation of gigantic liver hemangiomas: Case series of 3 patients
Authors: Pier Cristoforo Giulianotti, Roberto Bustos, Valentina Valle, Gabriela Aguiluz, Yevhen Pavelko, Eduardo Fernandes
Journal: Int J Surg Case Rep (2019)
Keywords: case series, enucleation, hemangioma, liver, resection, robotic

Introduction:
Liver hemangiomas are benign liver lesions that require surgical excision when large and symptomatic. Often, these tumors are removed through large anatomical resections which sacrifice more liver parenchyma than needed. Tumor enucleation, which takes advantage of a digitoclasia-like technique along the plane between the tumor pseudo-capsule and liver parenchyma, poses challenges when performed laparoscopically. We propose a parenchymal sparing, minimally invasive, robotic-assisted technique to remove liver hemangiomas.
Presentation of cases:
Three male patients with symptomatic hemangiomas were treated in our center between 2015 and 2018. The lesions were located in segment II, III and segment IV-V respectively. Robotic-assisted hemangioma enucleation was accomplished successfully in all three patients. The procedures were performed with a parenchyma-sparing intent and a formal segmentectomy was not required. There were no conversions to open surgery.
Discussion:
The robotic platform provides a powerful tool in the enucleation of liver hemangiomas. The enhanced vision and the superior suturing ability allow to develop safely the plane between the tumor pseudo-capsule and the liver parenchyma, with outstanding selective control of all the vascular supply and drainage encountered during the dissection. Furthermore, precision of the hilar dissection allows selective lobar or sectorial arterial control which helps minimize intraoperative bleeding.
Conclusion:
In our experience, robot-assisted enucleation of liver hemangiomas offers low morbidity, fast recovery, excellent cosmetic results, and it could become a therapeutic option when the location of the hemangioma allows this approach.