OpenMed/multicare-articles huggingface dataset:
Dedifferentiated Liposarcoma of the Retroperitoneum with Extensive Leiomyosarcomatous Differentiation and beta-Human Chorionic Gonadotropin Production
Authors: Michael J Russell, Frederick L Flynt, Allyson L Harroff, Oluwole Fadare
Journal: Sarcoma (2008)
MeSH terms: Case Reports

Dedifferentiated liposarcomas may display a variety of "heterologous" lines of differentiation, including osseous, vascular, skeletal, and/or smooth muscular. There have been six previously reported examples of leiomyosarcomas associated with high levels of serum human chorionic gonadotropin (hCG) production, comprised of cases originating from the retroperitoneum, spermatic cord, small intestine, and uterus. This report describes the first example of a dedifferentiated liposarcoma that combined both of the aforementioned features: extensive heterologous (leiomyosarcomatous) differentiation and beta-hCG production (maximum serum levels 1046 mIU/ml, reference <5 mIU/ml). The tumor, which originated in the retroperitoneum in the region of the right kidney, was rapidly progressive and ultimately fatal within three months of its diagnosis. In addition to characteristic morphologic features, lipogenic and smooth muscle differentiation were confirmed with immunohistochemical stains for MDM2 and smooth muscle actin, respectively. The tumor also displayed diffuse immunoreactivity for beta-hCG in both primary and metastatic sites. This case further expands the clinicopathologic spectrum of lipogenic tumors.
Gossypiboma causing mechanical intestinal obstruction: a case report
Authors: Akin Aydogan, Seckin Akkucuk, Ibrahim Yetim, Orhan Veli Ozkan, Murat Karcioglu
Journal: Case Rep Surg (2012)

Introduction. Gossypiboma (GP) is a term used to express the mass resulting from forgotten cotton sponge in operations. Rarely, a transmural migration may occur into the gastrointestinal lumen without creating any defect by GP. Laparotomy or endoscopic removal may be required, by the way it can be taken out of the body itself by intestinal ways. In this study, we reported a case of mechanical intestinal obstruction causing GP. Case. The fifty-one-year-old female patient admitted to the emergency department with the complaints of mechanical intestinal obstruction and had a history of open cholecystectomy 20 years ago. There were the findings of intestinal obstruction in abdominal plain radiography and computerized tomography. The sponge that obstructed the lumen completely 40 cm proximal to the ileocecal valve was identified in the laparotomy with the diagnosis of brid ileus. The small intestine was closed over double-fold after removal of sponge. Transmural migration of abdominal-remained sponge was thought to be occurred without creating a defect after cholecystectomy. Postoperatively, the patient was discharged without having any problems at 4th day of hospitalization. Conclusion. Although it is a rare situation in routine clinical practice, GP should be considered as a differential diagnosis in the patients who had a diagnosis of mechanical intestinal obstruction, and laparotomy was applied before. As GP may lead to situations which cause mortality, all precautions should be taken to prevent it.
Large ganglioneuroma presenting as presacral mass
Authors: Nagaveni Kamatam Jr, Edward Rayappan, Samjee Smile, Ravichandran Vivekanandan
Journal: BJR Case Rep (2016)
MeSH terms: Case Reports

Ganglioneuromas are benign tumours of the sympathetic nervous system that originate from neural crest cells. They are extremely rare in the presacral region. Here, we report a case of a presacral mass in a 14-year-old female who presented with complaints of pelvic discomfort, difficulty with micturition and constipation. Ultrasonogram showed a large heteroechoic solid mass in the pelvis with bilateral hydroureteronephrosis. It appeared as a well-circumscribed, hypodense mass lesion on CT scan, measuring 14 x 11 x 10 cm. It appeared isointense to muscle on T 1 and heterogeneously hyperintense on T 2 weighted images with heterogeneous post-contrast enhancement on MRI. The lesion was seen in the presacral region displacing the rectum and bladder anteriorly, and extending posteriorly, causing widening of the sacral foramina. The mass was surgically excised and her symptoms resolved. Histopathological examination of the mass revealed features of ganglioneuroma. We report this case in view of the large size of the mass and its rare location.
Successful weaning from the invasive respiratory support after nusinersen treatment in a child with SMA type 1: A case report
Authors: Meiling Pan, Jun Shi, Hongjun Miao, Qin Zhang
Journal: Front Pediatr (2023)
Keywords: case report, mechanical ventilation, nusinersen, pediatric, type 1 sma
MeSH terms: Case Reports

Background:
Spinal muscular atrophy (SMA) is an autosomal recessive disease, which can be classified into 4 types according to the symptom onset age and the highest physical developmental milestone. Among them, type 1 SMA is the most severe form that affects infants younger than 6 months. Permanent assisted ventilation is usually needed for infants with type 1 SMA before the age of 2 years due to the rapid progression of disease. Nusinersen can improve the motor function of SMA patients, but its effect on respiratory function varies. In the present study, we reported a case of child with type 1 SMA who was successfully weaned from the invasive respiratory support after nusinersen treatment.
Case presentation:
A girl aged 6 years and 5 months was admitted for SMA in the Children's Hospital of Nanjing Medical University for 18 times. She received the first administration of nusinersen in November 2020 at the age of 5 years and 1 month. At the age of 6 years and 1 month following 6 loading doses, we tried to wean the child from the invasive ventilation for non-invasive respiratory support using a nasal mask. At present, the patient shows oxygen saturation (SpO2) above 95% without ventilator support during the daytime, and no signs of dyspnea. A non-invasive home ventilator was used at nighttime for the sake of safety. The CHOP INTEND score increased by 11 points from the first loading dose to the sixth. She can now move her limbs against gravity, take in food orally and perform partial vocal function.
Conclusions:
We reported a child with type 1 SMA who was successfully weaned from the 2-years invasive ventilation after 6 loading doses, and now only need non-invasive ventilation 12 h per day. It is suggested that even a late nusinersen treatment can improve respiratory and motor function in SMA patients, and wean them from mechanical ventilation, thus improve the quality of life and reduce the medical cost.
Metastatic Urothelial Carcinoma from Transplanted Kidney with Complete Response to an Immune Checkpoint Inhibitor
Authors: Ryan S Chiang, Ashton A Connor, Brant A Inman, Wen-Chi Foo, David N Howell, John F Madden, Matthew J Ellis, Aparna S Rege, Michael R Harrison
Journal: Case Rep Urol (2020)
MeSH terms: Case Reports

Background:
Donor-derived malignancy is a rare complication in patients who undergo organ transplant. Approaches to treatment have largely been individualized based on clinical circumstances given the lack of evidence-based guidelines, with therapeutic options ranging from discontinuation of immunosuppression and transplantectomy to the addition of chemotherapy or radiotherapy. Case Presentation. Herein, we describe a 60-year-old woman with metastatic donor-derived upper tract urothelial carcinoma (UTUC) discovered nine years postrenal transplant. Molecular diagnostic studies using polymerase chain reaction amplification of short tandem repeat alleles and HLA tissue typing proved that the urothelial carcinoma originated from donor tissue. She achieved sustained complete remission with transplant nephroureterectomy, retroperitoneal lymphadenectomy, immunosuppression withdrawal, and immunotherapy with pembrolizumab. Routine radiologic surveillance has demonstrated 15-month progression-free survival to date off pembrolizumab, and she is now under consideration for retransplantation.
Conclusions:
Immunotherapy using checkpoint inhibitors can serve as a novel treatment option for patients in the clinical predicament of having a solid organ transplant and simultaneous metastatic malignancy. In this report, we also discuss the oncogenic potential of BK virus, the use of checkpoint inhibitors in urothelial carcinoma, and the feasibility of retransplant for this patient population.
Hypercalcaemia Mimicking STEMI on Electrocardiography
Authors: Joseph Donovan, Mark Jackson
Journal: Case Rep Med (2010)
MeSH terms: Case Reports

Acute coronary syndrome is a common cause of presentation to hospital. ST segment elevation on an electrocardiogram (ECG) is likely to be cardiac in origin, but in low-risk patients other causes must be ruled out. We describe a case of a man with hypercalcaemia, no evidence of cardiac disease, and ECG changes mimicking acute myocardial infarction. These ECG changes resolved after treatment of the hypercalcaemia.
Prostatosymphyseal Fistula Treated by Robotic Assisted Radical Prostatectomy
Authors: Lucy Whelan, Emma Mullarkey, Henry H Woo
Journal: Case Rep Urol (2015)

This case report documents a rare complication of prostate resection following a Greenlight laser procedure. The 75-year-old gentleman involved underwent photoselective vaporisation of the prostate (PVP) for clinically benign prostatic obstruction. Subsequent to PVP, the patient experienced recurrent macroscopic haematuria and pubic pain. Investigations confirmed the presence of a prostate-symphyseal fistula, a rare complication of PVP. We believe this to be the first reported case of successful treatment with robotic assisted radical prostatectomy.
Hydromyelia and Intramedullary Abscess Complications of Dermal Sinus Tract: Rare Case in a Child
Authors: Aldo J F da Silva, Bianca R Dos Santos Silva
Journal: Cureus (2023)
Keywords: abscess, child, fever, mri, spina bifida occulta
MeSH terms: Case Reports

The dermal sinus tract (DST) is an infrequent form of spina bifida occulta that can be complicated by infections. This is a case report of a child with a rare association of DST complications, namely hydromyelia and intramedullary abscess. A 1-year-old male child was admitted to the hospital with a history of fever and progressive loss of lower-limb movements and the presence of an ostium in the midline of the lumbar region and cutaneous stigmas with no secretion discharge. Computed tomography and magnetic resonance imaging (MRI) of the thoracolumbar spine revealed an extensive intradural T12-S1 abscess and cystic dilatation of the central medullary canal (hydromyelia) from T2 to T12. The surgery was conducted with the drainage of the large abscess and also improving hydromyelia. After 30 days of rehabilitation with physical therapy, the child could walk despite right crural monoparesis (possible L4/L5 injury). This report described a case of DST that showed a rare association of two complications, i.e., intramedullary abscess and hydromyelia, due to a late diagnosis. Sequelae could have been prevented with early diagnosis.
Isolated pulmonary cryptococcosis in a patient with Crohn's disease treated with infliximab: A case report and literature review
Authors: Mousa Hussein, Irfan Ul Haq, Mansoor Hameed, Abbas Alabbas, Hamad Abdel Hadi, Anam Elarabi, Issam Al-Bozom
Journal: Respir Med Case Rep (2021)
Keywords: crohn's disease, cryptococcosis, fungal infections, infliximab, tumor necrosis factor-alpha (tnf-α) inhibitors
MeSH terms: Case Reports

Tumor necrosis factor-alpha (TNF-α) inhibitors are widely used to treat various inflammatory conditions, where they have demonstrated excellent efficacy and tolerability. However, increased risk of infections is one of the most important concerns associated with these agents. Reactivation of tuberculosis and fungal infections have emerged as significant infective complications of anti-TNF-α therapy. Cryptococcus infection is an opportunistic fungal infection that can occur in patients receiving anti-TNF-α treatment. We report a rare case of isolated pulmonary cryptococcosis in a patient undergoing anti-TNF-α therapy for Crohn's disease. Our case should alert clinicians to the increased incidence and atypical presentation of pulmonary cryptococcosis in patients receiving anti-TNF-α treatment.
What do you think of an unusual axillary mass?
Authors: Hafsa Benzzi, Majda Askour, Afaf Elouazani, Mouna Bouaddi, Badreddine Hassam, Amar Saidi
Journal: Pan Afr Med J (2017)
Keywords: axillary mass, apocrine adenocarcinoma, skin
MeSH terms: Adenocarcinoma / diagnosis, Apocrine Glands / pathology, Skin Neoplasms / diagnosis, Sweat Gland Neoplasms / diagnosis, Case Reports, Adenocarcinoma / pathology, Adenocarcinoma / therapy, Axilla / pathology, Biopsy, Chemotherapy, Adjuvant / methods, Humans, Male, Middle Aged, Prognosis, Skin Neoplasms / pathology, Skin Neoplasms / therapy, Sweat Gland Neoplasms / pathology, Sweat Gland Neoplasms / therapy

Skin apocrine carcinoma is a rare malgnancy of epidermal adnexa, most frequent in axillary seat, where apocrine sweat gland are abundant, the neoplasm can arise in groin, anogenital, lips, eyelid, characterized by a plate or surface area of nodules hummocky. Etiology and incidence are not known. The prognosis is influenced by the risk of locoregional recurrence and metastatic evolution. We describe the case of 61-year-old man who presented a left axillary slow-growing mass since 2 years ago. The cutaneous biopsy objectified an apocrine adenocarcinoma. The paraclinic exams performed to detect primary breast were tumor negative, first step before confirming the diagnosis. Standard treatment is surgical excision with margins of 2 to 3cm for local tumor, for apocrine adenocarcinoma regional lymph node dissection if nodes were clinically positive is wide surgical excision. This kind of tumour is chemoresistant. In this case, adjuvant chemotherapy was indicated, before surgery to reduce tumoral volume. This case illustrates the importance clinicopathological correlation of skin cancer, particularly apocrine one. Clinical particularity and careful analyses histology helps diagnosis approach.
Early Adjuvant Medication With the mTOR Inhibitor Sirolimus in a Preterm Neonate With Compressive Cystic Lymphatic Malformation
Authors: Marion Honnorat, Loïc Viremouneix, Sonia Ayari, Laurent Guibaud, Karen Coste, Olivier Claris, Marine Butin
Journal: Front Pediatr (2020)
Keywords: lymphangioma, mtor inhibitor, preterm, sclerotherapy, sirolimus
MeSH terms: Case Reports

Cystic lymphatic malformations result from an abnormal embryological development of the lymphatic structures. Here we report on a case of a preterm female baby, born at 34 weeks of gestation, with a voluminous cervicofacial cystic lymphatic malformation responsible for an airway obstruction. An mTOR inhibitor, sirolimus, was started from the first day of life, and was combined with iterative sclerotherapy procedures. This case illustrates a safe and successful early administration of sirolimus in a preterm neonate.
Acute arterial occlusion resulting from paradoxical embolism - case report and literature review
Authors: Juliana Daud Ribeiro, Marcio Barreto de Araujo, Barbara de Araujo Casa, João Antonio Correa
Journal: J Vasc Bras (2021)
Keywords: doença arterial periférica, embolia, embolia paradoxal, embolia pulmonar, forame oval pérvio, trombose venosa profunda
MeSH terms: Case Reports

A embolia paradoxal é a transposição de um trombo originário da circulação sistêmica venosa para a arterial através de um defeito cardíaco, mais comumente o forame oval pérvio (FOP). A manifestação mais comum é o acidente cerebrovascular. A oclusão arterial aguda (OAA) é rara, requer alta suspeição diagnóstica e corresponde a menos de 2% de todos casos de embolia arterial. O tromboembolismo pulmonar (TEP) é a causa mais comum de elevação temporária do shunt direita-esquerda em pacientes com FOP e ocorre em pelo menos 60% dos casos de embolia paradoxal. Em 2019, um homem de 27 anos, sem fator para hipercoagulabilidade, deu entrada no Hospital Universitário do ABC, com quadro de OAA grau I Rutherford em membros inferiores secundária a tromboembolismo através de FOP prévio não diagnosticado, associado a trombose venosa profunda de membro inferior direito e TEP bilateral. O manejo incluiu anticoagulação plena e encaminhamento para cirurgia cardíaca.
Pulmonary Langerhans Cell Histiocytosis Presenting as a Solitary Pulmonary Nodule on a Lung Cancer Screening CT
Authors: Hassan Baig, Sushilkumar Sonavane, Ian Makey, Jorge Mallea, Andras Khoor
Journal: Case Rep Pulmonol (2020)
MeSH terms: Case Reports

Pulmonary Langerhans cell histiocytosis (PLCH) is a rare inflammatory condition that mostly affects lungs in smokers. On imaging, it usually presents as multiple, upper lobe predominant, solid, and cavitary nodules, but presentation as solitary pulmonary nodule (SPN) is rare. We describe a case of SPN seen on low-dose lung cancer screening CT (LDCT) that was FDG avid on PET/CT. Given concern for malignancy, lobectomy was planned if intraoperative frozen section was consistent with malignancy. Lobectomy was performed based on frozen section; however, on formal pathology review, the nodule was ultimately found to be PLCH. This case illustrates an atypical presentation of PLCH as a solitary nodule. Furthermore, it helps demonstrate how rare etiologies (like PLCH) may be more frequently encountered and should be considered in the differential diagnosis for solitary lung nodules, especially in the era of lung cancer screening.
Lingual Osseous Choristoma: Case report and literature review of this rare entity
Authors: Ioannis Gkouveris, Nikiforos Kapranos, Georgios G Mitrou
Journal: J Clin Exp Dent (2023)
MeSH terms: Case Reports

Intraoral osseous choristoma represents a benign lesion of growing ectopic bone in the soft tissues of the oral cavity. It is considered as rare entity while fewer than 100 cases have ever been reported worldwide. Nevertheless, the pathogenetic mechanism that drives this abnormal ossification still remains controversial. In the present study a case of lingual osseous choristoma in a 50-year old male is presented. The patient was treated with surgical excision and no recurrence was observed. In addition epidemiology, clinical presentation, and pathogenesis are reviewed, serving as a reminder of this rare pathology. Key words:Osseous choristoma, osteoma, tongue.
Localized Amyloidosis of the Nasal Mucosa: A Case Report and Review of the Literature
Authors: Hiromasa Takakura, Hirohiko Tachino, Kouji Takii, Johji Imura, Hideo Shojaku
Journal: Front Surg (2021)
Keywords: calcification, clinical features, debulking surgery, localized sinonasal amyloidosis, ultrasonic bone curette
MeSH terms: Case Reports

Amyloidosis is a disorder of protein folding in which various proteins automatically aggregate into a highly abnormal fibrillar conformation. Amyloidosis is classified into systemic and localized forms depending on whether the abnormal proteins deposited in several different organs or only a single organ. In localized amyloidosis of the head and neck regions, laryngeal amyloidosis is common; however, localized amyloidosis of the nose is extremely rare. We herein report a case of localized amyloidosis of the nose and review the relevant literature on localized sinonasal amyloidosis. A 41-year-old man presented with a history of severe nasal obstruction, which had persisted for two decades. Nasal endoscopy and imaging studies showed extensive thickening of the bilateral nasal mucosa and diffuse submucosal deposition of calcification. After histopathological and systemic examinations, he was diagnosed with localized amyloidosis of the nasal mucosa. Septoplasty and bilateral inferior turbinoplasty, which consisted of mucosal resection using an ultrasonic bone curette, was performed and his symptoms markedly improved. Localized sinonasal amyloidosis has a good prognosis and surgical resection should be selected as a first-line treatment; however, clinicians should recognize the high probability of recurrence.
Molecular Monitoring in Adult Philadelphia Chromosome-Positive Acute Lymphoblastic Leukemia with the Variant e13a3 BCR-ABL1 Fusion
Authors: Mireille Crampe, Laura Kearney, David O'Brien, C Larry Bacon, Derville O'Shea, Stephen E Langabeer
Journal: Case Rep Hematol (2019)
MeSH terms: Case Reports

Monitoring BCR-ABL1 transcript levels in patients with Philadelphia chromosome-positive acute lymphoblastic leukemia (Ph+ ALL) is a widely adopted method to assess response to therapy. However, a small minority of Ph+ ALL patients express variant BCR-ABL1 transcript types, usually due to splicing of alternative BCR or ABL1 exons. Whether patients expressing these rare, variant BCR-ABL1 transcripts have a distinct phenotype or response to therapy is not known due to the limited number of reported cases. Here, we report the presenting features of Ph+ ALL in a young adult with a variant e13a3 BCR-ABL1 fusion. Molecular monitoring reflected the disease response from diagnosis through allogeneic stem cell transplantation which resulted in undetectable e13a3 BCR-ABL1 transcripts. This case highlights the value of molecular monitoring in Ph+ ALL patients with variant BCR-ABL1 transcripts and the requirement for standardization of such assays.
Dyscalculia, dysgraphia, and left-right confusion from a left posterior peri-insular infarct
Authors: S Bhattacharyya, X Cai, J P Klein
Journal: Behav Neurol (2014)
MeSH terms: Agraphia / etiology, Brain Infarction / complications, Dyscalculia / etiology, Parietal Lobe / pathology, Perceptual Disorders / etiology, Temporal Lobe / pathology, Case Reports, Aged, Agraphia / pathology, Agraphia / psychology, Brain Infarction / pathology, Brain Infarction / psychology, Dyscalculia / pathology, Dyscalculia / psychology, Female, Functional Laterality / physiology, Humans, Magnetic Resonance Imaging, Perceptual Disorders / pathology, Perceptual Disorders / psychology, Space Perception / physiology

The Gerstmann syndrome of dyscalculia, dysgraphia, left-right confusion, and finger agnosia is generally attributed to lesions near the angular gyrus of the dominant hemisphere. A 68-year-old right-handed woman presented with sudden difficulty completing a Sudoku grid and was found to have dyscalculia, dysgraphia, and left-right confusion. Magnetic resonance imaging (MRI) showed a focus of abnormal reduced diffusivity in the left posterior insula and temporoparietal operculum consistent with acute infarct. Gerstmann syndrome from an insular or peri-insular lesion has not been described in the literature previously. Pathological and functional imaging studies show connections between left posterior insular region and inferior parietal lobe. We postulate that the insula and operculum lesion disrupted key functional networks resulting in a pseudoparietal presentation.