Eosinophilic Esophagitis

2017 ◽  
Author(s):  
Walter W Chan ◽  
Vikrant S Jagadeesan
Keyword(s):  
Differential Diagnosis ◽  
Key Words ◽  
Clinical Features ◽  
Eosinophilic Esophagitis ◽  
Clinical Symptoms ◽  
Recent Analysis ◽  
Food Impaction ◽  
Treatment Complications ◽  
Chronic Disorder ◽  
Esophageal Dysfunction

Eosinophilic esophagitis (EoE) is a chronic disorder characterized by eosinophil-predominant inflammation of the esophagus and clinical symptoms of esophageal dysfunction. It is believed to be immune/antigen-mediated, and its diagnosis requires recognition of specific clinical features with appropriate histologic findings on esophageal mucosal biopsies. Over the last 10 years, there has been an increase in the prevalence of EoE worldwide. A recent analysis estimated a prevalence of 56.7 per 100,000 persons, with males more often affected than females. This review covers the epidemiology, pathophysiology and pathogenesis, diagnosis, differential diagnosis, treatment, complications, and prognosis of EoE. This review contains 3 figures, 2 tables, and 46 references. Key words: dysphagia, eosinophilic esophagitis, eotaxin-3, esophageal dysfunction, esophageal eosinophilia, food impaction, inflammation of the esophagus 

scholarly journals Esophageal Rupture as a Primary Manifestation in Eosinophilic Esophagitis

2014 ◽  
Vol 2014 ◽  
pp. 1-5 ◽  
Author(s):  
Natalia Vernon ◽  
Divyanshu Mohananey ◽  
Ehsan Ghetmiri ◽  
Gisoo Ghaffari
Keyword(s):  
Eosinophilic Esophagitis ◽  
Esophageal Perforation ◽  
Rare Complication ◽  
Esophageal Mucosa ◽  
Esophageal Rupture ◽  
Food Impaction ◽  
Initial Manifestation ◽  
Esophageal Lumen ◽  
History Of ◽  
Esophageal Dysfunction

Eosinophilic esophagitis (EoE) is a chronic inflammatory process characterized by symptoms of esophageal dysfunction and, histologically, by eosinophilic infiltration of the esophagus. In adults, it commonly presents with dysphagia, food impaction, and chest or abdominal pain. Chronic inflammation can lead to diffuse narrowing of the esophageal lumen which may cause food impaction. Endoscopic procedures to relieve food impaction may lead to complications such as esophageal perforation due to the friability of the esophageal mucosa. Spontaneous transmural esophageal rupture, also known as Boerhaave’s syndrome, as a primary manifestation of EoE is rare. In this paper, we present two adult patients who presented with esophageal perforation as the initial manifestation of EoE. This rare complication of EoE has been documented in 13 other reports (11 adults, 2 children) and only 1 of the patients had been previously diagnosed with EoE. A history of dysphagia was present in 1 of our patients and in the majority of previously documented patients. Esophageal perforation is a potentially severe complication of EoE. Patients with a history of dysphagia and patients with spontaneous esophageal perforation should warrant an evaluation for EoE.

CHILDHOOD SARCOIDOSIS: A CASE REPORT

2020 ◽  
pp. 106-109
Author(s):  
Anh Le Thy Phuong
Keyword(s):  
Differential Diagnosis ◽  
Case Report ◽  
Key Words ◽  
Clinical Features ◽  
Early Onset ◽  
Pediatric Patients ◽  
Systemic Involvement ◽  
Uncommon Disease ◽  
Systemic Manifestations ◽  
Granulomatous Disorder

Childhood sarcoidosis is an uncommon disease and recognition of this disease in children is often delayed because of the lack of awareness and unfamiliarity with its clinical features. With the aim of providing clues for diagnosis and treatment of disease, we reported a a 23-month-old boy hospitalized for multiple pinkish papules  and painless cystic swellings in ankles and wrists, diagnosed with sarcoidosis, treated with corticosteroid and well recovered. This case reminds us to include childhood sarcoidosis in the differential diagnosis in pediatric patients who present with multiple papular eruptions along with systemic manifestations. It is characterized by arthritis, uveitis, and cutaneous involvement. The prognosis of early-onset childhood sarcoidosis varies in different studies due to the rarity of the disease. The treatment of choice in systemic involvement of childhood sarcoidosis is corticosteroids. Key words: sarcoidosis in children, childhood sarcoidosis, granulomatous disorder, arthritis, uveitis.

Reconsidering NMIHBA Core Features: Macrocephaly Is Not a So Unusual Sign in PRUNE1-Related Encephalopathy

2020 ◽  
Author(s):  
Roberta Battini ◽  
Enrico Bertini ◽  
Roberta Milone ◽  
Chiara Aiello ◽  
Rosa Pasquariello ◽  
...  
Keyword(s):  
Nervous System ◽  
Differential Diagnosis ◽  
Clinical Features ◽  
Neurodevelopmental Disorder ◽  
Recurrent Mutation ◽  
Clinical Suspicion ◽  
Alexander Disease ◽  
Brain Anomalies ◽  
Progressive Encephalopathy ◽  
Core Features

Abstract PRUNE1-related disorders manifest as severe neurodevelopmental conditions associated with neurodegeneration, implying a differential diagnosis at birth with static encephalopathies, and later with those manifesting progressive brain damage with the involvement of both the central and the peripheral nervous system.Here we report on another patient with PRUNE1 (p.Asp106Asn) recurrent mutation, whose leukodystrophy, inferior olives hyperintensity, and macrocephaly led to the misleading clinical suspicion of Alexander disease. Clinical features, together with other recent descriptions, suggest avoiding the term “microcephaly” in defining this disorder that could be renamed “neurodevelopmental disorder with progressive encephalopathy, hypotonia, and variable brain anomalies” (NPEHBA).

Ectodermal Dysplasia in two siblings: A Case report.

2019 ◽  
Author(s):  
CHAITHRA KALKUR ◽  
NILOFER HALIM ◽  
ANUSHA RANGARE ◽  
Rumisha .
Keyword(s):  
Case Report ◽  
Key Words ◽  
Clinical Features ◽  
Ectodermal Dysplasia ◽  
Heterogeneous Group ◽  
Eccrine Glands ◽  
Key Words Ectodermal Dysplasia

Ectodermal dysplasia is a heterogeneous group of inherited disorder affecting two or more ectodermally derived tissues such as skin, hair, nails, eccrine glands and teeth. The disorder is of two types: Hypohydrotic ectodermal dysplasia/Christ seimens –Touraine syndrome and Hydrotic ectodermal dysplasia/clousten syndrome. Commonly associated signs include hypohidrosis, anomalous dentition, onychodysplasia, hypotrichosis. Multidisciplinary approaches are required for optimal treatment3. Here, we present two cases of 19 and 13 year old male siblings who were diagnosed with the disorder based upon their clinical features. Key Words: ectodermal dysplasia, hypodontia; anomalous dentition.

scholarly journals Pediatric COVID-19 and the Factors That May Mitigate Its Clinical Course

2020 ◽  
Vol 10 (01) ◽  
pp. e137-e140
Author(s):  
Mosaad Abdel-Aziz ◽  
Nada M. Abdel-Aziz ◽  
Dina M. Abdel-Aziz ◽  
Noha Azab
Keyword(s):  
Clinical Features ◽  
Clinical Symptoms ◽  
Clinical Course ◽  
Clinical Manifestations ◽  
Gastrointestinal Symptoms ◽  
Angiotensin Converting Enzyme 2 ◽  
Compulsory Vaccination ◽  
Specific Factors ◽  
Novel Coronavirus ◽  
Radiographic Data

AbstractThe clinical manifestations of novel coronavirus disease 2019 (COVID-19) vary from mild flu-like symptoms to severe fatal pneumonia. However, children with COVID-19 may be asymptomatic or may have mild clinical symptoms. The aim of this study was to investigate clinical features of pediatric COVID-19 and to search for the factors that may mitigate the disease course. We reviewed the literature to realize the clinical features, laboratory, and radiographic data that may be diagnostic for COVID-19 among children. Also, we studied the factors that may affect the clinical course of the disease. Fever, dry cough, and fatigue are the main symptoms of pediatric COVID-19, sometimes flu-like symptoms and/or gastrointestinal symptoms may be present. Although some infected children may be asymptomatic, a recent unusual hyperinflammatory reaction with overlapping features of Kawasaki's disease and toxic shock syndrome in pediatric COVID-19 has been occasionally reported. Severe acute respiratory syndrome-coronvirus-2 (SARS-CoV-2) nucleic acid testing is the corner-stone method for the diagnosis of COVID-19. Lymphocyte count and other inflammatory markers are not essentially diagnostic; however, chest computed tomography is highly specific. Factors that may mitigate the severity of pediatric COVID-19 are home confinement with limited children activity, trained immunity caused by compulsory vaccination, the response of the angiotensin-converting enzyme 2 receptors in children is not the same as in adults, and that children are less likely to have comorbidities. As infected children may be asymptomatic or may have only mild respiratory and/or gastrointestinal symptoms that might be missed, all children for families who have a member diagnosed with COVID-19 should be investigated.

Prodromal Dementia With Lewy Bodies: Evolution of Symptoms and Predictors of Dementia Onset

2021 ◽  
pp. 089198872110235
Author(s):  
Kathryn A. Wyman-Chick ◽  
Lauren R. O’Keefe ◽  
Daniel Weintraub ◽  
Melissa J. Armstrong ◽  
Michael Rosenbloom ◽  
...  
Keyword(s):  
Clinical Features ◽  
Dementia With Lewy Bodies ◽  
Clinical Symptoms ◽  
Neuropsychiatric Symptoms ◽  
Lewy Bodies ◽  
Rem Sleep Behavior Disorder ◽  
Data Set ◽  
Wide Range ◽  
Prodromal Dementia ◽  
Dementia Onset

Background: Research criteria for prodromal dementia with Lewy bodies (DLB) were published in 2020, but little is known regarding prodromal DLB in clinical settings. Methods: We identified non-demented participants without neurodegenerative disease from the National Alzheimer’s Coordinating Center Uniform Data Set who converted to DLB at a subsequent visit. Prevalence of neuropsychiatric and motor symptoms were examined up to 5 years prior to DLB diagnosis. Results: The sample included 116 participants clinically diagnosed with DLB and 348 age and sex-matched (1:3) Healthy Controls. Motor slowing was present in approximately 70% of participants 3 years prior to DLB diagnosis. In the prodromal phase, 50% of DLB participants demonstrated gait disorder, 70% had rigidity, 20% endorsed visual hallucinations, and over 50% of participants endorsed REM sleep behavior disorder. Apathy, depression, and anxiety were common prodromal neuropsychiatric symptoms. The presence of 1+ core clinical features of DLB in combination with apathy, depression, or anxiety resulted in the greatest AUC (0.815; 95% CI: 0.767, 0.865) for distinguishing HC from prodromal DLB 1 year prior to diagnosis. The presence of 2+ core clinical features was also accurate in differentiating between groups (AUC = 0.806; 95% CI: 0.756, 0.855). Conclusion: A wide range of motor, neuropsychiatric and other core clinical symptoms are common in prodromal DLB. A combination of core clinical features, neuropsychiatric symptoms and cognitive impairment can accurately differentiate DLB from normal aging prior to dementia onset.

scholarly journals Disease-associated DNA methylation signatures in esophageal biopsies of children diagnosed with Eosinophilic Esophagitis

2021 ◽  
Vol 13 (1) ◽  
Author(s):  
Caterina Strisciuglio ◽  
Felicity Payne ◽  
Komal Nayak ◽  
Marialuisa Andreozzi ◽  
Alessandra Vitale ◽  
...  
Keyword(s):  
Dna Methylation ◽  
Eosinophilic Esophagitis ◽  
Field Potential ◽  
Line Treatment ◽  
Food Impaction ◽  
First Line ◽  
Genome Wide ◽  
Epigenetic Signatures ◽  
The Impact ◽  
First Line Treatment

AbstractEosinophilic esophagitis (EoE) is a leading cause of dysphagia and food impaction in children and adults. The diagnosis relies on histological examination of esophageal mucosal biopsies and requires the presence of > 15 eosinophils per high-powered field. Potential pitfalls include the impact of biopsy sectioning as well as regional variations of eosinophil density. We performed genome-wide DNA methylation analyses on 30 esophageal biopsies obtained from children diagnosed with EoE (n = 7) and matched controls (n = 13) at the time of diagnosis as well as following first-line treatment. Analyses revealed striking disease-associated differences in mucosal DNA methylation profiles in children diagnosed with EoE, highlighting the potential for these epigenetic signatures to be developed into clinically applicable biomarkers.

Empiric proton pump inhibitor therapy after esophageal food impaction may mask eosinophilic esophagitis diagnosis at follow-up

2021 ◽  
Author(s):  
Luke Hillman ◽  
Sarah Donohue ◽  
Aimee Teo Broman ◽  
Patrick Hoversten ◽  
Eric Gaumnitz ◽  
...  
Keyword(s):  
Proton Pump Inhibitor ◽  
Proton Pump ◽  
Eosinophilic Esophagitis ◽  
Empiric Therapy ◽  
Proton Pump Inhibitor Therapy ◽  
Significant Heterogeneity ◽  
Food Impaction ◽  
Esophageal Food Impaction ◽  
The Impact

Summary Esophageal food impaction (EFI) is often the first presentation for patients with eosinophilic esophagitis (EoE); however, there is significant heterogeneity in the management of EFI. We aimed to study the impact of EFI management, particularly post-EFI medication prescriptions on EoE diagnosis, follow-up, and recurrence in patients with endoscopic features of EoE. In our retrospective study, adults presenting between 2007 and 2017 with EFI requiring endoscopic dis-impaction with endoscopic features of EoE (furrows, rings, and/or exudates) were included. We examined the impact of demographics and EFI management on EoE diagnosis, follow-up (esophagogastroduodenoscopy [EGD] or clinic visit within 6 months), and recurrence. We identified 164 cases of EFI due to suspected EoE. Biopsy was performed in 68 patients (41.5%), and 144 patients (87.8%) were placed on proton pump inhibitor (PPI) and/or swallow corticosteroids after EFI, including 88.5% of those not biopsied. PPI use at time of biopsy was negatively associated with EoE diagnosis (odds ratio: 0.39, confidence interval: 0.17–0.85). Sixty-one (37.4%) patients were lost to follow-up at 6 months. Recurrent EFI at 1 year occurred in 3.7% of patients. Medications, most commonly PPI, are frequently prescribed after EFI when the endoscopic features of EoE are present, which may mask the diagnosis of EoE on follow-up EGD. We estimated that for every five patients biopsied on PPI, one case of EoE is masked. As recurrent EFI within 1 year is uncommon, empiric therapy should be avoided until diagnostic biopsies are obtained. Further efforts to reduce loss to follow-up after EFI are also needed.

First Presentation of an Acquired Demyelinating Syndrome

2017 ◽  
Vol 16 (03) ◽  
pp. 164-170
Author(s):  
Rachel Gottlieb-Smith ◽  
Amy Waldman
Keyword(s):  
Multiple Sclerosis ◽  
Central Nervous System ◽  
Nervous System ◽  
Differential Diagnosis ◽  
Optic Neuritis ◽  
Clinical Features ◽  
Neuromyelitis Optica ◽  
Transverse Myelitis ◽  
Acute Disseminated Encephalomyelitis ◽  
The Central Nervous System

AbstractAcquired demyelinating syndromes (ADS) present with acute or subacute monofocal or polyfocal neurologic deficits localizing to the central nervous system. The clinical features of distinct ADS have been carefully characterized including optic neuritis, transverse myelitis, and acute disseminated encephalomyelitis. These disorders may all be monophasic disorders. Alternatively, optic neuritis, partial transverse myelitis, and acute disseminated encephalomyelitis may be first presentations of a relapsing or polyphasic neuroinflammatory disorder, such as multiple sclerosis or neuromyelitis optica. The clinical features of these disorders and the differential diagnosis are discussed in this article.

Sign in / Sign up

Export Citation Format

Share Document