OpenMed/multicare-articles huggingface dataset:
Neuropathological characterization of the cavitating leukoencephalopathy caused by COA8 cytochrome c oxidase deficiency: a case report
Authors: Alexandra Chapleau, Renée-Myriam Boucher, Tomi Pastinen, Isabelle Thiffault, Peter V Gould, Geneviève Bernard
Journal: Front Cell Neurosci (2023)
Keywords: apopt1, coa8-related leukoencephalopathy, cox deficiency, case report, cavitating leukoencephalopathy, mitochondrial disorders, neuropathology
MeSH terms: Case Reports

COA8-related leukoencephalopathy is a recently described rare cavitating leukoencephalopathy caused by biallelic variants in the COA8 gene. Clinically, it presents heterogeneously and usually follows a bi-phasic clinical course with a period of acute onset and regression, followed by stabilization, and in some cases, even subtle improvement. We present a 4-year-old boy with a homozygous 2.5 kilobase pair deletion in the COA8 gene following a severe neurological deterioration resulting in death weeks after onset. Brain MRI revealed a distinctive pattern of cavitating leukodystrophy predominantly involving the posterior cerebral white matter which improved upon a follow-up MRI a month later. Brain pathology displayed overall white matter destruction with gliosis and infiltration by macrophages. There was preservation of astrocytes around blood vessels and axons around the zones of demyelination. This study is the first neuropathological examination of COA8-related leukoencephalopathy and provides further characterization of the clinical and MRI phenotype.
Rivaroxaban Treatment for Heparin-Induced Thrombocytopenia: A Case Report and a Review of the Current Experience
Authors: Mohamed Aon, Omar Al-Shammari
Journal: Case Rep Hematol (2020)
MeSH terms: Case Reports

Heparin-induced thrombocytopenia is a life-threatening complication of exposure to heparin. Heparin-induced thrombocytopenia results from an autoantibody directed against platelet factor 4 in complex with heparin. Heparin-induced thrombocytopenia is traditionally treated with bivalirudin, argatroban, danaparoid, or fondaparinux. Recently, direct oral anticoagulants administration to treat heparin-induced thrombocytopenia has been reported. Direct oral anticoagulants do not cause platelet activation in the presence of heparin-platelet factor 4 antibodies, nor do they provoke autoantibody production. Direct oral anticoagulants offer advantages such as consistent and predictable anticoagulation, oral administration with good patient compliance, and a good safety profile. We report a case of heparin-induced thrombocytopenia with deep venous thrombosis successfully treated with rivaroxaban and review the current experience with rivaroxaban for the treatment of heparin-induced thrombocytopenia.
Adrenocortical Secreting Mass in a Patient with Gardner's Syndrome: A Case Report
Authors: Nabila Mejdoub Rekik, Sourour Ben Salah, Nozha Kallel, Mahdi Kamoun, Nadia Charfi, Mohamed Abid
Journal: Case Rep Med (2010)
MeSH terms: Case Reports

Gardner's syndrome (GS) is a dysplasia characterized by neoformations of the intestine, soft tissue, and osseous tissue. Endocrine neoplasms have occasionally been reported in association with GS. Adrenal masses in GS are rare, and few have displayed clinical manifestations. In the current paper, The authors report a 37-year-old male patient with GS including familial adenomatous polyposis (FAP) and mandible osteoma who presented with an incidental adrenal mass. Computerized tomography adrenal scan identified bilateral masses. Functional analyses showed a hormonal secretion pattern consistent with pre-Cushing's syndrome. Other extraintestinal manifestations were hypertrophy of the pigmented layer of the retina and histiocytofibroma in the right leg. This paper describes a rare association of adrenocortical secreting mass in an old male patient with Gardner syndrome.
Bone-added periodontal plastic surgery: a new approach in esthetic dentistry
Authors: Gholam Ali Gholami, Hadi Gholami, Reza Amid, Mahdi Kadkhodazadeh, Amir Reza Mehdizadeh, Navid Youssefi
Journal: Ann Surg Innov Res (2015)
Keywords: bone graft, periodontal regeneration, plastic surgery, root coverage
MeSH terms: Case Reports

This article proposes a combined technique including bone grafting, connective tissue graft, and coronally advanced flap to create some space for simultaneous bone regrowth and root coverage. A 23 year-old female was referred to our private clinic with a severe class II Miller recession and lack of attached gingiva. The suggested treatment plan comprised of root coverage combined with xenograft bone particles. The grafted area healed well and full coverage was achieved at 12-month follow-up visit. Bone-added periodontal plastic surgery can be considered as a practical procedure for management of deep gingival recession without buccal bone plate.
Meningeal carcinomatosis: a metastasis from gastroesophageal junction adenocarcinoma
Authors: Tanya Dam, Aftab Mahmood, Kenneth Linville, Michael Bailey, Salim Surani
Journal: Case Rep Med (2013)

Gastroesophageal adenocarcinoma is a malignant type of cancer, which can metastasize to multiple organs. However, there have not been many case reports in the literature pertaining the relationship of gastroesophageal adenocarcinoma and carcinomatous meningitis. In this case, a 65-year-old African American male with a history of dysphagia was initially diagnosed with adenocarcinoma at gastroesophageal junction. The patient was treated with both chemotherapy and radiation, but chemotherapy was interrupted due to significant weight loss, anemia, and sudden onset of change in mental status. Patient was admitted to our facility for further evaluation of his neurological symptoms. The patient became more confused and delirious during hospital stay, and symptoms could not be explained by radiological studies and laboratory values. Therefore, a lumbar puncture was done to search for infectious and neoplastic causes that were not shown up on Computed Tomography scan (CT) and Magnetic Resonance Imaging scan (MRI) of the brain. The cerebrospinal fluid (CSF) cytology showed metastatic poorly differentiated adenocarcinoma. The patient's prognosis was poor because there is no specific treatment recommendation for primary gastroesophageal cancer at this stage. The patient passed away 4 weeks later under hospice care. The goal of our case report is to raise awareness of the rare metastatic possibility in advanced stage of gastroesophageal adenocarcinoma. In doing so, physicians can help educate and prepare family for unfavorable outcomes.
Periventricular heterotopia and white matter abnormalities in a girl with mosaic ring chromosome 6
Authors: Satsuki Nishigaki, Takashi Hamazaki, Mika Saito, Toshiyuki Yamamoto, Toshiyuki Seto, Haruo Shintaku
Journal: Mol Cytogenet (2015)
Keywords: array-comparative genomic hybridization, brain mri, periventricular heterotopia, ring chromosome 6, small for gestational age, white matter abnormality
MeSH terms: Case Reports

Ring chromosome 6 is a rare chromosome abnormality that arises typically de novo. The phenotypes can be highly variable, ranging from almost normal to severe malformations and neurological defects. We report a case of a 3-year-old girl with mosaic ring chromosome 6 who presented with being small for gestational age and intellectual disability, and whose brain MRI later revealed periventricular heterotopia and white matter abnormalities. Mosaicism was identified in peripheral blood cells examined by standard G-bands, mos 46,XX,r(6)(p25q27)[67]/45,XX,-6[25]/46,XX,dic r(6:6)(p25q27:p25q27)[6]/47,XX,r(6)(p25q27) × 2[2]. Using array-comparative genomic hybridization, we identified terminal deletion of 6q27 (1.5 Mb) and no deletion on 6p. To our knowledge, this is the first report of periventricular heterotopia and white matter abnormalities manifested in a patient with ring chromosome 6. These central nervous system malformations are further discussed in relation to molecular genetics.
Transsphenoidal meningoencephalocele protruding into the nasal cavity
Authors: Vera Cruz E Silva, Ana Luís, Rita Mora Féria, Luís Marques, Martinha Chorão, Carla Reizinho, Joana Graça
Journal: BJR Case Rep (2016)
MeSH terms: Case Reports

Spontaneous transsphenoidal meningoencephalcele is a rare entity, even rarer through the Sternberg's canal, a congenital defect on the lateral wall of the sphenoid sinus. We report such a case in an obese 52-year-old female with spontaneous cerebrospinal fluid (CSF) rhinorrhoea and recurrent meningitis. Brain CT, MRI and CT cisternography were performed. Surgical correction and short-term follow-up were recorded. CT scan showed a defect on the lateral wall of the right sphenoid sinus filled with a soft tissue mass extending to the nasal cavity. MRI scan revealed brain parenchyma from the right temporal lobe herniated through the sphenoid bone defect. CT cisternography showed 270 mmH2O opening pressure and confirmed the CSF leakage. Surgical correction was performed with resolution of the symptoms. MRI and CT are complementary modalities for evaluating this entity, the first being the method of choice for meningoencephalcele diagnosis although bone defects are best depicted on CT scan. CT cisternography identifies the specific site of leak and confirms benign intracranial hypertension, consistently reported in meningoencephaloceles. Obesity and benign intracranial hypertension have been reported as a combined mechanism allegedly contributing to meningoencephaloceles through congenital skull base defects, by increasing intraabdominal pressure thus decreasing venous return, with augmented intracranial pressure and subsequent reduced absorption of the CSF.
Granulomatosis with Polyangiitis Misdiagnosed as IgA Vasculitis in a Child
Authors: Sheida Amini, Mohsen Jari
Journal: Case Rep Pediatr (2023)
MeSH terms: Case Reports

Background:
Granulomatosis with polyangiitis (GPA) with early manifestations simulating IgA vasculitis is a very rare childhood systemic disease. Case Presentation. A 10-year-old boy presented initially with cutaneous, skeletal, and abdominal signs suggestive of IgA vasculitis. Over time, the worsening of skin ulcers, orchitis, and renal involvement led to the diagnosis of GPA according to cytoplasmic positive antineutrophil cytoplasmic antibodies and renal biopsy.
Conclusion:
Clinicians should be awared of the diagnostic pitfalls when making a clinical diagnosis of IgA vasculitis in children older than 7 years.
Case Report: Two Cases of Metastatic Pancreatoblastoma in Adults: Efficacy of Folfirinox and Implication of the Wnt/β-Catenin Pathway in Genomic Analysis
Authors: Jean-Luc Raoul, Sandrine Oziel-Taieb, Thierry Lecomte, José Adelaide, Arnaud Guille, Max Chaffanet, Flora Poizat, Marie-Françoise Heymann, Louise Barbier, François Bertucci
Journal: Front Oncol (2021)
Keywords: wnt/β-catenin, adult, chemotherapy—oncology, genomics, pancreatoblastoma
MeSH terms: Case Reports

Pancreatoblastomas are unfrequent tumors usually found in children. We report two cases of metastatic pancreatoblastomas observed in young women. A systemic chemotherapy (FOLFIRINOX regimen) was associated with a disease control in one case and a partial response in the second with an improvement of general status for both. A high-throughput sequencing of the tumor described in both cases alteration in the Wnt/β-catenin pathway: a mutation in CTNNB1 (exon 3, c.110C>G, p.S37C, reported as a hotspot in COSMIC) in one case and a homozygous loss associated with breakage targeting APC (5q22.2) in the second.
COVID-19 and Aspiration Pneumonia: Similar Pulmonary Findings with Different Diagnoses-a Pitfall in [18F]FDG PET/CT
Authors: Virginia Liberini, Serena Grimaldi, Martin W Huellner, Francesca Giunta, Costanza Bachi, Sara Dall'Armellina, Federica Onesti, Francesco Ceci, Carola Boccomini, Massimiliano Icardi, Désirée Deandreis
Journal: SN Compr Clin Med (2021)
Keywords: ab ingestis, aspiration pneumonia, covid-19, pneumonia, sars-cov-2, [18f]fdg pet/ct

Since December 2019, the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has become a worldwide pandemic. Especially in the centers most affected by the pandemic, symptoms (such as fever, cough, myalgia, or fatigue) and/or radiological signs (such as ground-glass opacity) typically related to COVID-19 often diverted clinicians' attention from other diseases. Despite the urgency to recognize and cure SARS-CoV-2 infection, a plethora of differential diagnoses must be considered, and other diseases must be equally and promptly treated, as described in this case report.
BCORL1 S878G, GNB1 G116S, SH2B3 A536T, and KMT2D S3708R tetramutation co-contribute to a pediatric acute myeloid leukemia: Case report and literature review
Authors: Liang Wang, Sen Chen, Yongming Shen, Ping Si
Journal: Front Pediatr (2022)
Keywords: bcorl1, gnb1, kmt2d, sh2b3, acute myeloid leukemia
MeSH terms: Case Reports

Acute myeloid leukemia (AML) is a clinically, morphologically, and genetically heterogeneous group of malignancies characterized by a wide range of genomic alterations responsible for defective regulation of the differentiation and self-renewal programs of hematopoietic stem cells. Here, we report a 4-month-old boy who had acute onset with leukocytosis and abdominal mass. The morphological analysis of bone marrow (BM) smear revealed extremely marrow hyperplasia, large quantities of immature cells, and primary and immature monocytic hyperplasia accounting for 57.5% of nucleated cells. The chromosome karyotype of the case was complex, representing 48, XY, +13, +19[12]/48, idem, del (p12)[8]. After RNAs sequencing, a mutation (c.346G > A, p.G116S) of the GNB1 gene was detected and localized to the mutational hotspot in Exon 7. Meanwhile, the other three mutations were identified by next-generation sequencing (NGS) and whole-exome sequencing (WES) of DNA from the BM aspirate and oral swab, including BCORL1 mutation [c.2632A > G, p.S878G, mutation allele frequency (VAF): 99.95%], SH2B3 mutation (c.1606G > A, p.A536T, VAF: 51.17%), and KMT2D mutation (c.11124C > G, p.S3708R, VAF: 48.95%). BCORL1 mutations have been associated with the pathogenesis of AML, whereas other mutations have rarely been previously reported in pediatric AML. The patient did not undergo the combination chemotherapy and eventually died of respiratory failure. In conclusion, the concurrence of BCORL1, GNB1, SH2B3, and KMT2D mutations may be a mutationally detrimental combination and contribute to disease progression.
A Giant Aggressive Angiomyxoma of the Pelvis Misdiagnosed as Incarcerated Femoral Hernia: A Case Report and Review of the Literature
Authors: Alper Sozutek, Oktay Irkorucu, Enver Reyhan, Kemal Yener, Ali Ayberk Besen, Kivilcim Eren Erdogan, Gulfiliz Gonlusen, Figen Doran
Journal: Case Rep Surg (2016)

Aggressive angiomyxoma (AA) is an uncommon mesenchymal tumor that is mostly derived from the female pelvic and perineal regions. AA is a locally infiltrative slow growing tumor with a marked tendency to local recurrence. Painless swelling located around the genitofemoral region is the common symptom; thus, it is often misdiagnosed as a gynecological malignancy or a groin hernia. A 35-year-old female patient who previously underwent surgery for left femoral hernia operation resulting in surgical failure was reoperated for a giant AA located in the pelvis. The tumor was completely excised with free margins. Histopathologic examination revealed an AA. The tumor size was measured as 24 × 12 × 6 cm with a weight of 4.2 kg. Immunohistochemically, the cells show positive staining with vimentin, desmin, estrogen, and progesterone receptor. S100, MUC4, CD34, and SMA were negative in the tumor cells. AA should be considered in the differential diagnosis of any painless swelling located in the genitofemoral region, particularly in women of reproductive age. The principle treatment should be complete surgical excision with tumor-free margins. Long-term follow-up and careful monitoring are essential due to its high tendency of local recurrence in spite of wide excision of the tumor. Adjuvant antihormonal therapy yields promising results for preventing recurrence.
A novel use of integra™ bilayer matrix wound dressing on a pediatric scalp avulsion: a case report
Authors: Michael Singer, Jessica Korsh, William Predun, Dennis Warfield Jr, Richard Huynh, Thomas Davenport, Louis Riina
Journal: Eplasty (2015)
Keywords: integra, alopecia, avulsion, matrix, wound

Objective:
Soft tissue injuries with full-thickness skin involvement not amenable to local flaps may be treated with dermal matrices and subsequent skin grafting.
Methods:
A pediatric patient presented with a 50-cm(2) scalp avulsion down to periosteum and outer cranial table post-vehicular trauma. After cultivating healthy cranial neodermis with Integra Bilayer Matrix Wound Dressing, a novel modification of treatment protocol was attempted by removal of the silastic layer.
Results:
Neodermis transformation to granulation tissue followed by contraction of the wound reduced alopecia while also eliminating the need for a split-thickness skin graft to the area.
Conclusion:
A novel modification of treatment protocols utilizing acellular dermal matrices improved aesthetic outcomes and may present a cost-, time-, and procedure-sparing treatment option for avulsion injuries.
Omalizumab for Idiopathic Nonhistaminergic Angioedema: Evidence for Efficacy in 2 Patients
Authors: Enrico Brunetta, Dana Shiffer, Marco Folci, Maria I S Achenza, Francesca Puggioni, Enrico Heffler, Raffaello Furlan, Giorgio W Canonica
Journal: Case Reports Immunol (2018)
MeSH terms: Case Reports

Presently, there is inconclusive evidence regarding the most effective treatment for idiopathic nonhistaminergic acquired angioedema (InH-AAE). Omalizumab may, however, prove to be a promising option. This case report describes two patients who presented with recurrent angioedema attacks, which was refractory to antihistamine therapy. Hence, they were treated with 300 mg omalizumab, every 4 weeks, for a period of 6 months. Both patients had shown a rapid response to the treatment and achieved complete resolution of symptoms without further AE attacks throughout the entire duration of the treatment period. After omalizumab's suspension, one patient remained symptom free for the following 6 months and the other patient had recurrence of symptoms after 2 months for which he was retreated with omalizumab and once again became symptom free. Although omalizumab seems to be effective as a prophylactic treatment for InH-AAE, the determining factors leading to the differences in time-to-relapse between patients after its suspension remain unclear. Further studies are needed in order to better determine the potential therapeutic application of omalizumab and its role in maintenance therapy.
A case report of long-term successful stereotactic arrhythmia radioablation in a cardiac contractility modulation device carrier with giant left atrium, including a detailed dosimetric analysis
Authors: Mario Levis, Veronica Dusi, Massimo Magnano, Marzia Cerrato, Elena Gallio, Alessandro Depaoli, Federico Ferraris, Gaetano Maria De Ferrari, Umberto Ricardi, Matteo Anselmino
Journal: Front Cardiovasc Med (2022)
Keywords: cardiac contractility modulation, case report, radiotherapy, stereotactic body radiation therapy, ventricular tachycardia
MeSH terms: Case Reports

Introduction:
Catheter ablation (CA) is the current standard of care for patients suffering drug-refractory monomorphic ventricular tachycardias (MMVTs). Yet, despite significant technological improvements, recurrences remain common, leading to increased morbidity and mortality. Stereotactic arrhythmia radioablation (STAR) is increasingly being adopted to overcome the limitations of conventional CA, but its safety and efficacy are still under evaluation.
Case presentation:
We hereby present the case of a 73-year-old patient implanted with a mitral valve prosthesis, a cardiac resynchronization therapy-defibrillator, and a cardiac contractility modulation device, who was successfully treated with STAR for recurrent drug and CA-resistant MMVT in the setting of advanced heart failure and a giant left atrium. We report a 2-year follow-up and a detailed dosimetric analysis.
Conclusion:
Our case report supports the early as well as the long-term efficacy of 25 Gy single-session STAR. Despite the concomitant severe heart failure, with an overall heart minus planned target volume mean dosage below 5 Gy, no major detrimental cardiac side effects were detected. To the best of our knowledge, our dosimetric analysis is the most accurate reported so far in the setting of STAR, particularly for what concerns cardiac substructures and coronary arteries. A shared dosimetric planning among centers performing STAR will be crucial in the next future to fully disclose its safety profile.
Renal myopericytoma: A case report with a literature review
Authors: Zhiqiang Zhang, Dexin Yu, Haoqiang Shi, Dongdong Xie
Journal: Oncol Lett (2014)
Keywords: histopathology, kidney, myopericytoma, neoplasm

Myopericytoma is a rare neoplasm that generally arises from the skin and superficial soft tissues of distal extremities, and is particularly rare in the visceral organs. The current report presents a case of giant myopericytoma showing kidney involvement, which is extremely rare. A 39-year-old male presented to the Department of Urology with a 2-month history of a painless and palpable mass in the region of the left abdomen. Unenhanced computed tomography revealed a 9×10×18-cm3 mass that was heterogeneous with central lower density. The patient underwent radical nephrectomy, including lymphadenectomy, without adjuvant therapy. The tumor was composed of spindle-shaped myoid cells with a concentric arrangement and showed immunoreactivity for smooth muscle actin and cluster of differentiation (CD)10, and had a Ki-67 index of <1%; however, staining was negative for CD34, desmin, S-100 protein, cytokeratin, human melanoma black (HMB)-45, B-cell lymphoma (Bcl)-2 and CD99. Routine follow-up revealed no local or distant metastatic signs of reccurrence for 20 months. The present report shows that renal myopericytoma may be a benign tumor, and surgical excision without adjuvant therapy may be the only potentially curative treatment approach.