RELA Fusion-Positive Ependymoma in a Child with Down Syndrome: A Case Report

2021 ◽  
Vol 56 (2) ◽  
pp. 146-151
Author(s):  
Julie L. Chan ◽  
Alon Kashanian ◽  
Serguei I. Bannykh ◽  
Fataneh Majlessipour ◽  
Joshua J. Breunig ◽  
...  
Keyword(s):  
Down Syndrome ◽  
New Left ◽  
Anaplastic Ependymoma ◽  
Common Multiple ◽  
Case Presentation ◽  
Leptomeningeal Involvement ◽  
First Case ◽  
Increased Risk ◽  
Sporadic Cases ◽  
Multiple Malformation

Introduction: Down syndrome (DS) is the most common multiple malformation syndrome in humans and is associated with an increased risk of childhood malignancy, particularly leukemia. Incidence of brain tumors in patients with DS is limited to sporadic cases. We report the first case of a RELA fusion-positive ependymoma in a 3-year-old boy with DS. Case Presentation: Imaging prompted by new left-sided hemiparesis demonstrated an 8-cm hemorrhagic right temporal-parietal mass. Subsequent image-complete resection confirmed a RELA fusion-positive anaplastic ependymoma with 90% OLIG2 staining. Postoperatively, the patient, unfortunately, experienced fatal recurrence and drop metastases with leptomeningeal involvement. Conclusion: To our knowledge, this is the first reported case of a confirmed RELA fusion-positive ependymoma in a child with DS. We discuss this finding in the context of intracranial tumors in children with DS, as well as the finding of 90% positive OLIG2 expression and its potential as a prognostic marker.

scholarly journals The First Reported Case of Juvenile Dermatomyositis in an Adolescent with Down Syndrome and the Clinical Considerations for Therapy

2021 ◽  
Vol 15 (1) ◽  
pp. 65-68
Author(s):  
Jordan T. Jones ◽  
Chelsey Smith
Keyword(s):  
Down Syndrome ◽  
Autoimmune Disease ◽  
Juvenile Dermatomyositis ◽  
Early Recognition ◽  
Inflammatory Myopathy ◽  
The United States ◽  
Birth Prevalence ◽  
First Case ◽  
Increased Risk ◽  
Clinical Considerations

Background: Down Syndrome (DS) is one of the most common birth conditions in the United States of America, with approximately 5300 births annually, resulting in an estimated birth prevalence of 12.6 per 10,000 live births and a population prevalence in the USA since 2010 of 6.7 per 10,000 inhabitants. Children with DS have complex medical challenges that present due to changes in their immune system that results in increased rates of infection, malignancy, and autoimmune disease. Juvenile Dermatomyositis (JDM) is a rare, autoimmune disease, and the most common inflammatory myopathy of childhood. Reports suggest an increased incidence of arthritis in children with DS, but there have been no reports of JDM in children with DS. Additionally, those with DS pose unique challenges with an increase in adverse effects and ineffectiveness of immunosuppressive therapy. Case : We describe the first case of an adolescent female with DS who developed JDM with a positive anti-p155/140 antibody and characteristic clinical phenotype. We discuss increased awareness of autoimmune disease in adolescents with DS and clinical considerations for therapy with immunosuppression. Conclusion: Adolescents with DS are at increased risk for autoimmune disease, including JDM. Awareness, early recognition of the signs and symptoms of autoimmune disease in those with DS is important, so appropriate therapy can be implemented.

CLINICAL CHALLENGES FOR ANESTHESIOLOGIST FACING PATIENT WITH ACROMEGALY. CASE REPORT

2020 ◽  
Vol 30 (3) ◽  
pp. 56-59
Author(s):  
Jūratė Gudaitytė ◽  
Justina Jermolajevaitė ◽  
Martynas Judickas
Keyword(s):  
Atrial Fibrillation ◽  
Case Report ◽  
General Population ◽  
Metabolic Disorders ◽  
Upper Airway ◽  
Cardiovascular Complications ◽  
Case Presentation ◽  
Increased Risk ◽  
Fluid Regulation ◽  
Class Iv

Background and objectives: Acromegaly is endocri­nal disorder which results in changes involving ge­neral appearance as well as upper airway abnorma­lities, cardiovascular and metabolic disorders which can aggravate the anesthesia and can lead to compli­cations. We aim to discuss the challenges for anesthe­siologist that occurs facing patient with acromegaly and are necessary to investigate before performing any kind of intervention. Case Presentation: 79 years old male patient presen­ted the hospital with recently diagnosed acromegaly for rectal prolapse surgery. From anamnesis he had NYHAIII with cardiomyopathy, atrial fibrillation and arterial hypertension, also multiple old compressive fractures Th10 – L5. He was graded with Mallam­pati score IV and ASA class IV. The complemen­tary examinations were made to assess the possible complications. In induction of general anesthesia the intubation was performed using fibro- bronchoscope and anesthesia went without complications except hypotension which was managed. After surgery the patient was leaded to the postoperative room for furt­her monitoring. Discussion and Conclusion: Acromegalic patients have an increased risk of difficulty during anesthe­sia compared to general population due to difficult intubation, cardiovascular complications , OSA , alte­ration in intraoperative glucose intolerance and fluid regulation. Therefore profound investigation and as­sessment are necessary to predict and prepare for possible difficulties in the surgery room.

scholarly journals Epilepsy in Down Syndrome: A Highly Prevalent Comorbidity

2021 ◽  
Vol 10 (13) ◽  
pp. 2776
Author(s):  
Miren Altuna ◽  
Sandra Giménez ◽  
Juan Fortea
Keyword(s):  
Down Syndrome ◽  
Functional Outcomes ◽  
Clinical Presentation ◽  
Late Onset ◽  
Current Knowledge ◽  
Epileptic Seizures ◽  
Myoclonic Epilepsy ◽  
Increased Risk ◽  
Number Of Individuals

Individuals with Down syndrome (DS) have an increased risk for epilepsy during the whole lifespan, but especially after age 40 years. The increase in the number of individuals with DS living into late middle age due to improved health care is resulting in an increase in epilepsy prevalence in this population. However, these epileptic seizures are probably underdiagnosed and inadequately treated. This late onset epilepsy is linked to the development of symptomatic Alzheimer’s disease (AD), which is the main comorbidity in adults with DS with a cumulative incidence of more than 90% of adults by the seventh decade. More than 50% of patients with DS and AD dementia will most likely develop epilepsy, which in this context has a specific clinical presentation in the form of generalized myoclonic epilepsy. This epilepsy, named late onset myoclonic epilepsy (LOMEDS) affects the quality of life, might be associated with worse cognitive and functional outcomes in patients with AD dementia and has an impact on mortality. This review aims to summarize the current knowledge about the clinical and electrophysiological characteristics, diagnosis and treatment of epileptic seizures in the DS population, with a special emphasis on LOMEDS. Raised awareness and a better understanding of epilepsy in DS from families, caregivers and clinicians could enable earlier diagnoses and better treatments for individuals with DS.

scholarly journals Immediate post partum macular subretinal bleeding in a highly myopic patient: a case report

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Karen Bitton ◽  
J.-L. Bacquet ◽  
F. Amoroso ◽  
S. Mrejen ◽  
M. Paques ◽  
...  
Keyword(s):  
Valsalva Maneuver ◽  
Post Partum ◽  
Pathologic Myopia ◽  
Pathological Myopia ◽  
Case Presentation ◽  
Sudden Loss ◽  
Corrected Visual Acuity ◽  
First Case ◽  
History Of ◽  
Macular Hemorrhage

Abstract Background Pathologic myopia is a major cause of visual impairment and blindness. Case presentation We report a case of an immediate post partum macular subretinal bleeding observed in a highly myopic patient. A 30-years-old woman presented two days after childbirth for sudden loss of vision in her right eye. Multimodal imaging showed macular hemorrhage masking a subtle yellowish linear lesion corresponding to lacker crack. Due to the lack of evidence for choroidal neovascularization, a simple clinical and imaging monitoring was recommended. Six weeks later, we noted an improvement in her best-corrected visual acuity and a decreased in size of the macular hemorrhage. Conclusions This is the first case reporting a macular subretinal bleeding on macular lacquer cracks in a highly myopic patient in immediate post partum. Valsalva maneuver associated with vaginal delivery could explain the occurrence of the hemorrhage associated with lacquer crack. However, natural history of pathological myopia could not be excluded.

Fourth Ventricle Outlet Obstruction and Diverticular Enlargement of Luschka Foramina in a Child with Down Syndrome

2020 ◽  
pp. 1-4
Author(s):  
Valentina Orlando ◽  
Pietro Spennato ◽  
Maria De Liso ◽  
Vincenzo Trischitta ◽  
Alessia Imperato ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Fourth Ventricle ◽  
Endoscopic Third Ventriculostomy ◽  
Obstructive Hydrocephalus ◽  
Radiological Finding ◽  
Outlet Obstruction ◽  
Third Ventriculostomy ◽  
Viable Option ◽  
Case Presentation

<b><i>Introduction:</i></b> Hydrocephalus is not usually part of Down syndrome (DS). Fourth ventricle outlet obstruction is a rare cause of obstructive hydrocephalus, difficult to diagnose, because tetraventricular dilatation may suggest a communicant/nonobstructive hydrocephalus. <b><i>Case Presentation:</i></b> We describe the case of a 6-year-old boy with obstructive tetraventricular hydrocephalus, caused by Luschka and Magen­die foramina obstruction and diverticular enlargement of Luschka foramina (the so-called fourth ventricle outlet obstruction) associated with DS. He was treated with endoscopic third ventriculostomy (ETV) without complications, and a follow-up MRI revealed reduction of the ventricles, disappearance of the diverticula, and patency of the ventriculostomy. <b><i>Conclusion:</i></b> Diverticular enlargement of Luschka foramina is an important radiological finding for obstructive tetraventricular hydrocephalus. ETV is a viable option in tetraventricular obstructive hydrocephalus in DS.

scholarly journals Emphysematous pyelonephritis with air bubble in the inferior vena cava

2020 ◽  
Vol 26 (1) ◽  
Author(s):  
Tiffany A. Perkins ◽  
Alberic Rogman ◽  
Murali K. Ankem
Keyword(s):  
Septic Shock ◽  
Inferior Vena Cava ◽  
Inferior Vena ◽  
Vena Cava ◽  
Rare Presentation ◽  
Emphysematous Pyelonephritis ◽  
Case Presentation ◽  
Air Bubble ◽  
First Case ◽  
The Right

Abstract Background Emphysematous pyelonephritis (EPN) with gas in the inferior vena cava (IVC) is a rare presentation and to our knowledge, this is the first case report in the urologic literature. Case presentation A 35-Year-old obese diabetic Hispanic female presented to the emergency room with a clinical picture of septic shock. Prompt computerized tomography scan revealed EPN with gas throughout the right renal parenchyma and extending to the right renal vein, IVC, and pulmonary artery. She died before surgical intervention Conclusion This case demonstrates that patients presenting with severe EPN have a high mortality risk and providers should acknowledge that septic shock, endogenous air emboli, or a combination of both could result in cardiovascular collapse and sudden death.

scholarly journals Cerebral venous thrombosis in a patient with Down syndrome and coronavirus disease 2019: a case report

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Henry Robayo-Amortegui ◽  
Natalia Valenzuela-Faccini ◽  
Cesar Quecano-Rosas ◽  
Darlyng Zabala-Muñoz ◽  
Michel Perez-Garzon
Keyword(s):  
Risk Factors ◽  
Down Syndrome ◽  
Case Report ◽  
Venous Thrombosis ◽  
Cerebral Venous Thrombosis ◽  
Epidemiological Data ◽  
Thromboembolic Disease ◽  
Hispanic Woman ◽  
Case Presentation ◽  
The World

Abstract Background The new coronavirus disease 2019 pandemic has spread throughout most of the world. Cerebral venous thrombosis is a rare thromboembolic disease that can present as an extrapulmonary complication in coronavirus disease 2019 infection. Case presentation We report the case of a Hispanic woman with Down syndrome who has coronavirus disease 2019 and presents as a complication extensive cerebral venous thrombosis. Conclusions Cerebral venous thrombosis is a rare thromboembolic disease that can present as an extrapulmonary complication in coronavirus disease 2019 infection. In the absence of clinical and epidemiological data, it is important to carry out further investigation of the risk factors and pathophysiological causes related to the development of cerebrovascular thrombotic events in patients with Down syndrome with coronavirus disease 2019 infection.

scholarly journals Robotic-assisted proximal gastrectomy using the double-flap technique for early gastric cancer with situs inversus totalis: a case report

2021 ◽  
Vol 7 (1) ◽  
Author(s):  
Atsushi Takeno ◽  
Toru Masuzawa ◽  
Shinsuke Katsuyama ◽  
Kohei Murakami ◽  
Kenji Kawai ◽  
...  
Keyword(s):  
Gastric Cancer ◽  
Situs Inversus ◽  
Autosomal Recessive ◽  
Intraoperative Complications ◽  
Proximal Gastrectomy ◽  
Situs Inversus Totalis ◽  
Upper Body ◽  
Robot Assisted ◽  
Case Presentation ◽  
First Case

Abstract Background The robotic system has been applied in the treatment of gastric cancer (GC), and the procedure has been found to be safe and feasible. Situs inversus totalis (SIT) is a relatively rare autosomal recessive congenital anomaly. We successfully performed robot-assisted proximal gastrectomy (RAPG) and handsewn double-flap esophagogastrostomy for GC in a patient with SIT. Case presentation A 71-year-old woman was referred to us with an asymptomatic ulcerative lesion in the upper body of the stomach. Computed tomography revealed that she had SIT. She was diagnosed with cT1bN0M0, cStageIA gastric cancer. RAPG with lymph node dissection and handsewn double-flap esophagogastrostomy was performed. Robotic surgery enabled the surgeon to perform the surgery without changing his position and experiencing any confusion resulting from the patient’s reversed anatomy. It took 448 min, and no intraoperative complications occurred. Her postoperative course was uneventful; she was discharged on postoperative day 10. The final pathologic report showed pT1b1N0M0, pStage IA. Conclusions This is the first case describing RAPG with handsewn double-flap esophagogastrostomy for a SIT patient with early GC.

Fetal pulmonary choristoma: report of first case and literature review

2020 ◽  
Vol 9 (1) ◽  
Author(s):  
Anupam Nanda ◽  
Rajinder Nanda ◽  
Seema Thakur ◽  
Tej Prakash Gupta ◽  
Sudhir Jain ◽  
...  
Keyword(s):  
Literature Review ◽  
Exome Sequencing ◽  
Posterior Fossa ◽  
Spinal Column ◽  
Fetal Autopsy ◽  
Case Presentation ◽  
Antenatal Ultrasound ◽  
Clinical Exome Sequencing ◽  
First Case ◽  
Pathologic Findings

AbstractObjectivesLung tissue choristoma is a very rare disorder where mature lung tissues develop in the site not normal to the lung.Case presentationWe hereby report a first case of fetal pulmonary choristoma in a 23–24 weeks fetus where antenatal ultrasound showed a mass in posterior fossa with severe ventriculomegaly. The mass extended inferiorly in cervical spinal column and thereafter extended in the skin over the back of fetus. Fetal autopsy confirmed these findings. Pathologic findings showed mature lung tissues with bronchi, bronchioles, and alveoli. Clinical exome sequencing showed normal results.ConclusionsWe describe the antenatal ultrasound, fetal autopsy and pathologic findings of an intracranial and cutaneous pulmonary choristoma.

scholarly journals Bittersweet: infective complications of drug-induced glycosuria in patients with diabetes mellitus on SGLT2-inhibitors: two case reports

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Caroline Bartolo ◽  
Victoria Hall ◽  
N. Deborah Friedman ◽  
Chloe Lanyon ◽  
Andrew Fuller ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Fungal Infections ◽  
Case Reports ◽  
Sglt2 Inhibitor ◽  
Sglt2 Inhibitors ◽  
Urogenital Tract ◽  
Hypoglycemic Agents ◽  
Drug Induced ◽  
First Case ◽  
Increased Risk

Abstract Background Sodium-glucose co-transporter 2 (SGLT2) inhibitors are novel hypoglycemic agents which reduce reabsorption of glucose at the renal proximal tubule, resulting in significant glycosuria and increased risk of genital mycotic infections (GMI). These infections are typically not severe as reported in large systematic reviews and meta-analyses of the medications. These reviews have also demonstrated significant cardiovascular benefits through other mechanisms of action, making them attractive options for the management of Type 2 diabetes mellitus (T2DM). We present two cases with underlying abnormalities of the urogenital tract in which the GMI were complicated and necessitated cessation of the SGLT2 inhibitor. Case presentations Both cases are patients with T2DM on empagliflozin, an SGLT2 inhibitor. The first case is a 64 year old man with Candida albicans balanitis and candidemia who was found to have an obstructing renal calculus and prostatic abscess requiring operative management. The second case describes a 72 year old man with Candida glabrata candidemia who was found to have prostatomegaly, balanitis xerotica obliterans with significant urethral stricture and bladder diverticulae. His treatment was more complex due to fluconazole resistance and concerns about urinary tract penetration of other antifungals. Both patients recovered following prolonged courses of antifungal therapy and in both cases the SGLT2 inhibitor was ceased. Conclusions Despite their cardiovascular benefits, SGLT2 inhibitors can be associated with complicated fungal infections including candidemia and patients with anatomical abnormalities of the urogenital tract may be more susceptible to these infections as demonstrated in these cases. Clinicians should be aware of their mechanism of action and associated risk of infection and prior to prescription, assessment of urogenital anatomical abnormalities should be performed to identify patients who may be at risk of complicated infection.

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