Gardner-associated fibroma presenting as an unusual floor of mouth mass in a child

2021 ◽  
pp. 201010582110549
Author(s):  
Rosslyn Anicete ◽  
Mei-Yi Low
Keyword(s):  
Vascular Malformations ◽  
Colonic Polyps ◽  
Paediatric Population ◽  
Floor Of Mouth ◽  
Inflammatory Conditions ◽  
First Case ◽  
Increased Risk ◽  
Benign Tumours ◽  
Slow Growing ◽  
Rare Diagnosis

Floor of mouth lesions in the paediatric population are uncommon. The spectrum of pathology that afflicts the floor of mouth spans inflammatory conditions, developmental anomalies, vascular malformations and benign tumours or malignancies. We report a rare case of Gardner-associated fibroma (GAF) presenting as a slow-growing floor of mouth mass in a 10-year-old boy. GAF is associated with Gardner’s syndrome (GS) and familial adenomatous polyposis (FAP), both of which are associated with multiple colonic polyps and increased risk of colorectal malignancy. To our knowledge, this case report represents the first case in the literature of a GAF presenting in the floor of mouth of a paediatric patient, and discusses the clinical implications of this rare diagnosis.

scholarly journals Acute presentation of an intraoral dermoid cyst causing airway compromise in a young child

2019 ◽  
Vol 12 (4) ◽  
pp. e228421 ◽  
Author(s):  
Sanjana Bhalla ◽  
Vikas Acharya ◽  
Munira Ally ◽  
Ali Taghi
Keyword(s):  
Oral Cavity ◽  
Dermoid Cyst ◽  
Previous History ◽  
Airway Compromise ◽  
Floor Of Mouth ◽  
First Case ◽  
Swallowing Difficulties ◽  
History Of ◽  
Rare Diagnosis ◽  
Histology Report

A 4-month-old boy presented with a cystic swelling at the floor of the mouth causing acute airway compromise. The only previous history of note, was a tongue tie release at 3 days old. CT scan suggested a dermoid cyst with extensive floor of mouth abscess. He had an excision of the cyst and drainage of the superimposed abscess and made a good recovery. The histology report revealed a dermoid cyst which is a rare diagnosis in a child, particularly within the oral cavity. Early treatment is required to remove these lesions especially when they cause airway compromise or swallowing difficulties. This is the first case to our knowledge which suggests tongue tie release procedures causes a predisposition to the development of dermoid cysts in the oral cavity.

scholarly journals Gardener-associated fibroma: an unusual cause of upper airway obstruction

2018 ◽  
pp. bcr-2018-225079
Author(s):  
Rohan Sebastian Pinto ◽  
Anthony Simons ◽  
Rohit Verma ◽  
Neil Bateman
Keyword(s):  
Airway Obstruction ◽  
Upper Airway ◽  
Colonic Polyps ◽  
Postoperative Recovery ◽  
Upper Airway Obstruction ◽  
Transcervical Approach ◽  
First Case ◽  
Increased Risk ◽  
History Of ◽  
Apc Mutation

We present the first case of upper airway obstruction secondary to a retropharyngeal Gardner-associated fibroma (GAF). A 16-month-old infant presented with a 3-month history of worsening dyspnoea and apnoeic episodes. Examination revealed stridor and left-sided retropharyngeal asymmetry. MRI demonstrated a mass in the retropharynx. Tracheostomy and pharyngeal biopsy under anaesthesia were performed, and histology confirmed a diagnosis of GAF. The mass was excised using a transcervical approach, and postoperative recovery was unremarkable. GAF is associated with Gardner’s syndrome (GS) and familial adenomatous polyposis (FAP), both of which are associated with multiple colonic polyps and increased risk of colorectal malignancy. Subsequent testing for an APC mutation seen in GS and FAP was negative in our patient. The details of this unusual presentation of a rare disease are given in addition to a review of the literature.

scholarly journals Upbeat vertical nystagmus after brain stem cavernoma resection: a rare case of nucleus intercalatus/nucleus of roller injury

2020 ◽  
Vol 267 (10) ◽  
pp. 2865-2870
Author(s):  
Torstein R. Meling ◽  
Aria Nouri ◽  
Adrien May ◽  
Nils Guinand ◽  
Maria Isabel Vargas ◽  
...  
Keyword(s):  
Rare Case ◽  
Vascular Malformations ◽  
Clinical Manifestations ◽  
Neurological Injury ◽  
Medial Longitudinal Fasciculus ◽  
Blurred Vision ◽  
Complete Excision ◽  
First Case ◽  
Vertical Nystagmus ◽  
Upbeat Nystagmus

Abstract Introduction CNS cavernomas are a type of raspberry-shaped vascular malformations that are typically asymptomatic, but can result in haemorrhage, neurological injury, and seizures. Here, we present a rare case of a brainstem cavernoma that was surgically resected whereafter an upbeat nystagmus presented postoperatively. Case report A 42-year old man presented with sudden-onset nausea, vomiting, vertigo, blurred vision, marked imbalance and difficulty swallowing. Neurological evaluation showed bilateral ataxia, generalized hyperreflexia with left-sided predominance, predominantly horizontal gaze evoked nystagmus on right and left gaze, slight left labial asymmetry, uvula deviation to the right, and tongue deviation to the left. MRI demonstrated a 13-mm cavernoma with haemorrhage and oedema in the medulla oblongata. Surgery was performed via a minimal-invasive, midline approach. Complete excision was confirmed on postoperative MRI. The patient recovered well and became almost neurologically intact. However, he complained of mainly vertical oscillopsia. The videonystagmography revealed a new-onset spontaneous upbeat nystagmus in all gaze directions, not suppressed by fixation. An injury of the rarely described intercalatus nucleus/nucleus of Roller is thought to be the cause. Conclusion Upbeat nystagmus can be related to several lesions of the brainstem, including the medial longitudinal fasciculus, the pons, and the dorsal medulla. To our knowledge, this is the first case of an iatrogenic lesion of the nucleus intercalatus/nucleus of Roller resulting in an upbeat vertical nystagmus. For neurologists, it is important to be aware of the function of this nucleus for assessment of clinical manifestations due to lesions within this region.

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.

scholarly journals Back Pain in a 23-Year-Old Male With X-Linked Chronic Granulomatous Disease

2019 ◽  
Vol 6 (11) ◽  
Author(s):  
Michelle C Sabo ◽  
Michela Blain ◽  
Denise McCulloch ◽  
Heather L Glasgow ◽  
Dhruba J Sengupta ◽  
...  
Keyword(s):  
Back Pain ◽  
Invasive Aspergillosis ◽  
Chronic Granulomatous Disease ◽  
Vertebral Osteomyelitis ◽  
Aspergillus Species ◽  
Granulomatous Disease ◽  
First Case ◽  
Increased Risk

Abstract Patients with chronic granulomatous disease are at increased risk for invasive aspergillosis. Cryptic Aspergillus species are being increasingly recognized as distinct causes of infection in this population. In this study, we describe the first case of Aspergillus udagawae vertebral osteomyelitis in a patient with X-linked chronic granulomatous disease.

Spontaneous cervical surgical emphysema following childbirth

2007 ◽  
Vol 121 (12) ◽  
Author(s):  
S Mylvaganam ◽  
C G L Hobbs
Keyword(s):  
Case Report ◽  
Complete Resolution ◽  
Post Partum ◽  
Neck Swelling ◽  
First Case ◽  
Increased Risk ◽  
Surgical Emphysema

AbstractObjective:We report a case of post-partum surgical cervical emphysema, which is a rare but well recognised complication of labour. By reporting the first case in the ENT literature, we aim to raise awareness of this complication, particularly amongst trainees, to ensure that patients are managed most appropriately.Case report:A 36-year-old, primigravida woman developed neck swelling and odynophagia post-partum. Surgical cervical emphysema was palpated, with further examination excluding pneumomediastinum and pneumothorax. The patient was managed conservatively, with complete resolution of symptoms within a week.Conclusions:Surgical cervical emphysema, pneumothorax and pneumomediastinum are all well recognised post-partum complications. The vast majority of cases do not present with respiratory or cardiac compromise and can be appropriately managed conservatively, with expectation of resolution in a fortnight. There is no evidence that such patients are at increased risk during subsequent pregnancies.

scholarly journals Association between Inflammatory Conditions and Alzheimer’s Disease Age of Onset in Down Syndrome

2021 ◽  
Vol 10 (14) ◽  
pp. 3116
Author(s):  
Florence Lai ◽  
Nathaniel Mercaldo ◽  
Cassandra M. Wang ◽  
Giovi G. Hersch ◽  
Herminia Diana Rosas
Keyword(s):  
Down Syndrome ◽  
Age Of Onset ◽  
Vitamin B12 Deficiency ◽  
Inflammatory Conditions ◽  
Increased Risk ◽  
Wide Range ◽  
High Prevalence ◽  
Autoimmune Conditions ◽  
B12 Deficiency ◽  
The Relationship

Adults with Down syndrome (DS) have an exceptionally high prevalence of Alzheimer disease (AD), with an earlier age of onset compared with the neurotypical population. In addition to beta amyloid, immunological processes involved in neuroinflammation and in peripheral inflammatory/autoimmune conditions are thought to play important roles in the pathophysiology of AD. Individuals with DS also have a high prevalence of autoimmune/inflammatory conditions which may contribute to an increased risk of early AD onset, but this has not been studied. Given the wide range in the age of AD onset in those with DS, we sought to evaluate the relationship between the presence of inflammatory conditions and the age of AD onset. We performed a retrospective study on 339 adults with DS, 125 who were cognitively stable (CS) and 214 with a diagnosis of AD. Data were available for six autoimmune conditions (alopecia, celiac disease, hypothyroidism, psoriasis, diabetes and vitamin B12 deficiency) and for one inflammatory condition, gout. Gout was associated with a significant delay in the age of AD onset by more than 2.5 years. Our data suggests that inflammatory conditions may play a role in the age of AD onset in DS. Further studies are warranted.

scholarly journals Osteoporosis and periodontitis: a bidirectional relationship

2017 ◽  
Vol 20 (2) ◽  
pp. 19
Author(s):  
Paramjit Kaur Khinda
Keyword(s):  
Immune System ◽  
Osteoclast Differentiation ◽  
Osteoporotic Bone ◽  
Molecular Evidence ◽  
Hormonal Changes ◽  
Inflammatory Conditions ◽  
Current Perspective ◽  
Increased Risk ◽  
Bidirectional Relationship ◽  
Bone Changes

<p>Osteoporosis is a condition of compromised bone strength that predisposes an individual to increased risk of fracture and is a major cause of morbidity in older susceptible individuals. Osteoporosis is related to various endocrinal abnormalities, metabolic and nutritional factors, postmenopausal hormonal changes and consumption of certain drugs such as cortisone. Emerging clinical and molecular evidence suggests that inflammation also exerts significant influence on osteoporotic bone changes. Numerous pro-inflammatory cytokines have been shown to be associated with regulation of osteoblast and osteoclast differentiation. Chronic inflammatory conditions causing immune system remodeling may serve as pathological risk factors for osteoporosis. The present article reviews the current perspective on the interaction between bone morphology and immune system in the inflammatory condition (periodontitis), unleashing the link between two chronic conditions.</p><p><strong>Keywords</strong></p><p>Osteoporosis; Periodontitis; Inflammation; Bone remodelling.</p>

scholarly journals The association of frontal recess anatomy and mucosal disease on the presence of chronic frontal sinusitis: a computed tomographic analysis

2014 ◽  
Vol 52 (3) ◽  
pp. 208-214
Author(s):  
W.-S. Lai ◽  
P.-L. Yang ◽  
C.-H. Lee ◽  
Y.-Y. Lin ◽  
Y.-H. Chu ◽  
...  
Keyword(s):  
Logistic Regression ◽  
Strong Association ◽  
Ct Scans ◽  
Mucosal Inflammation ◽  
Frontal Sinusitis ◽  
Logistic Regression Models ◽  
Computed Tomographic ◽  
Frontal Recess ◽  
Inflammatory Conditions ◽  
Increased Risk

Objectives: The frontal sinus has the most complex and variable drainage routes of all paranasal sinus regions. The goal of this study was to identify these anatomical factors and inflammation areas relating to chronic frontal sinusitis by comparing radiological presentations in patients with and without frontal sinusitis. Methods: All adult patients with chronic rhinosinusitis who had received computed tomography (CT) scans of the nasal cavities and paranasal sinuses between October 2010 and September 2011. Logistic regression analysis was used to compare the distribution of various frontal recess cells and surrounding inflammatory conditions in patients with and without frontal sinusitis. Results: Analysis of 240 sides of CT scans was performed with 66 sides excluded. The opacification of the frontal recess and sinus lateralis demonstrated a strong association with an increased presence of frontal sinusitis by multiple logistic regression models. Conclusion: Opacification of the frontal recess and sinus lateralis was found to be associated with a significantly increased risk of frontal sinusitis and developing severe blockage of drainage pathways. It provides evidence that mucosal inflammation disease in these two areas is a very important factor leading to chronic frontal sinusitis.

scholarly journals Multiple Hürthle cell adenomas in a patient with thyroid hormone resistance

2013 ◽  
Vol 2013 ◽  
Author(s):  
Gemma Xifra ◽  
Silvia Mauri ◽  
Jordi Gironès ◽  
José Ignacio Rodríguez Hermosa ◽  
Josep Oriola ◽  
...  
Keyword(s):  
Thyroid Hormone ◽  
Thyroid Nodules ◽  
List Type ◽  
Hormone Resistance ◽  
Subsequent Growth ◽  
Thyroid Hormone Resistance ◽  
Hürthle Cell ◽  
First Case ◽  
Increased Risk ◽  
Tsh Levels

Summary Background: Thyroid hormone resistance (RTH) is a rare cause of thyroid dysfunction. High TSH levels, as described in RTH syndrome, are known to be associated with an increased risk of developing thyroid nodules with subsequent growth and malignancy. Patient findings: In 2006, a 29-year-old Caucasian man presented with a palpable mass in the neck. Increased free thyroxine and triiodothyronine levels were found in the context of unsuppressed TSH levels, despite no signs or symptoms of hyperthyroidism. Ultrasonography revealed a multinodular and enlarged goitre, and fine-needle aspiration cytology revealed suspicious features of malignancy. After excluding pituitary tumour and levothyroxine (l-T4) treatment, the patient was diagnosed with generalized RTH. Screening for all the known mutations in thyroid hormone receptor-β (TR β (THRB)) was negative. Thyroidectomy disclosed five Hürthle adenomas and three hyperplasic nodules. Euthyroidism was achieved after surgery with 6.1 μg/kg per day of l-T4. Conclusion: RTH may be a risk factor that predisposes to the development of multiple Hürthle cell adenomas. To our knowledge, this is the first case of multiple Hürthle cell adenomas in a patient with RTH. Learning points High TSH levels, as described in RTH syndrome, are known to be associated with an increased risk of developing thyroid nodules, with subsequent growth and malignancy. The exact role of TR β mutants in thyroid carcinogenesis is still undefined. We report the first case of multiple Hürthle cell adenomas associated with RTH.

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