scholarly journals Redefining WILD syndrome: a primary lymphatic dysplasia with congenital multisegmental lymphoedema, cutaneous lymphovascular malformation, CD4 lymphopaenia and warts

2021 ◽  
pp. jmedgenet-2021-107820
Author(s):  
Sahar Mansour ◽  
Katherine S Josephs ◽  
Pia Ostergaard ◽  
Kristiana Gordon ◽  
Malou Van Zanten ◽  
...  
Keyword(s):  
Case Report ◽  
Single Case ◽  
Case Series ◽  
Anterior Chest Wall ◽  
Clinical Syndrome ◽  
Intestinal Lymphangiectasia ◽  
Diagnostic Features ◽  
Total N ◽  
Systemic Involvement ◽  
Lymphatic Dysplasia

BackgroundPrimary lymphoedema (PL) syndromes are increasingly recognised as presentations of complex genetic disease, with at least 20 identified causative genes. Recognition of clinical patterns is key to diagnosis, research and therapeutics. The defining criteria for one such clinical syndrome, ‘WILD syndrome’ (Warts, Immunodeficiency, Lymphoedema and anogenital Dysplasia), have previously depended on a single case report.Methods and resultsWe present 21 patients (including the first described case) with similar clinical and immunological phenotypes. All had PL affecting multiple segments, with systemic involvement (intestinal lymphangiectasia/pleural or pericardial effusions) in 70% (n=14/20). Most (n=20, 95%) had a distinctive cutaneous lymphovascular malformation on the upper anterior chest wall. Some (n=10, 48%) also had hyperpigmented lesions resembling epidermal naevi (but probably lymphatic in origin). Warts were common (n=17, 81%) and often refractory. In contrast to the previous case report, anogenital dysplasia was uncommon—only found in two further cases (total n=3, 14%). Low CD4 counts and CD4:CD8 ratios typified the syndrome (17 of 19, 89%), but monocyte counts were universally normal, unlike GATA2 deficiency.ConclusionWILD syndrome is a previously unrecognised, underdiagnosed generalised PL syndrome. Based on this case series, we redefine WILD as ‘Warts, Immunodeficiency, andLymphatic Dysplasia’ and suggest specific diagnostic criteria. The essential criterion is congenital multisegmental PL in a ‘mosaic’ distribution. The major diagnostic features are recurrent warts, cutaneous lymphovascular malformations, systemic involvement (lymphatic dysplasia), genital swelling and CD4 lymphopaenia with normal monocyte counts. The absence of family history suggests a sporadic condition, and the random distribution of swelling implicates mosaic postzygotic mutation as the cause.

Primary otological manifestations of granulomatosis with polyangiitis: a case series

2015 ◽  
Vol 129 (2) ◽  
pp. 179-182 ◽  
Author(s):  
N Amiraraghi ◽  
S Robertson ◽  
A Iyer
Keyword(s):  
Case Report ◽  
Early Diagnosis ◽  
Granulomatosis With Polyangiitis ◽  
Histological Analysis ◽  
Case Series ◽  
Acute Mastoiditis ◽  
Systemic Involvement ◽  
Ear Infections ◽  
Serous Otitis Media ◽  
Timely Treatment

AbstractObjectives:A primary otological presentation of granulomatosis with polyangiitis is rare. We present four cases of granulomatosis with polyangiitis with different otological manifestations.Case report:A literature review of granulomatosis with polyangiitis cases presenting to otolaryngologists was undertaken. A case series review of four patients presenting within a 12-month period was also performed. One patient had serous otitis media which worsened after myringotomy. Two patients presented with acute ear infection and facial palsy and one with acute mastoiditis. All were positive for antineutrophilic cytoplasmic antibody, and three had positive findings upon histological analysis.Conclusion:When acute supposed ear infections fail to respond to treatment (antibiotics or surgery), rarer causes of the symptoms should be considered. By reporting this case series, we aim to improve the early diagnosis of granulomatosis with polyangiitis to enable timely treatment and prevent systemic involvement.

The Use of Intravenous Lidocaine for the Management of Acute Pain Secondary to Traumatic Ankle Injury: A Case Report

2017 ◽  
Vol 31 (1) ◽  
pp. 126-129 ◽  
Author(s):  
Billy Sin ◽  
Diana Gritsenko ◽  
Grace Tam ◽  
Kimberly Koop ◽  
Eva Mok
Keyword(s):  
Emergency Department ◽  
Case Report ◽  
Acute Pain ◽  
Single Case ◽  
Case Series ◽  
The United States ◽  
Prescribing Patterns ◽  
Intravenous Lidocaine ◽  
Inpatient Hospitalization ◽  
Acute Distress

Sports-related injuries are a frequent cause of visits to the emergency department (ED) across the United States. A majority of these injuries affect the lower extremities with the ankle as the most frequently reported site. Most sports-related injuries are not severe enough to require inpatient hospitalization; however, they often lead to acute distress and pain which require prompt treatment with analgesics. Approximately 22% of patients who presented to the ED required pharmacotherapy for acute pain management. Opioids have been traditionally used for the management of severe acute pain in the ED; however, there are growing concerns for opioid overuse and misuse. As a result, there is growing controversy regarding the appropriate selection of analgesic agents, optimal dosing, and need for outpatient therapy which has contributed to changes in prescribing patterns of opioids in the ED. Lidocaine, a class 1b antiarrhythmic, has been utilized as an analgesic agent. Its use has been documented for the management of intractable chronic pain caused by cancer, stroke, neuropathies, or nephrolithiasis. However, literature describing the use of intravenous lidocaine for the management of acute pain secondary to trauma is limited to a single case series. This case report describes the use of intravenous lidocaine in a 17-year-old male who presented to the ED in acute distress secondary to ankle dislocation and fracture. This report serves to describe additional clinical experience with intravenous lidocaine for the management of acute pain secondary to ankle fracture in the emergency department.

CRPS of Lower Extremity– A Case Report and Review

2016 ◽  
Vol 27 (1) ◽  
pp. 22-28
Author(s):  
Mahima Agrawal
Keyword(s):  
Case Report ◽  
Lower Extremity ◽  
Lower Limb ◽  
Relaxation Training ◽  
Single Case ◽  
Case Series ◽  
Pain Syndrome ◽  
Type I ◽  
Retrospective Case ◽  
Single Case Report

Abstract Complex regional pain syndrome (CRPS) of the lower limb is a relatively uncommon entity as compared to CRPS of the upper extremity. Literature search has revealed only 2 retrospective case series and a single case report of lower extremity CRPS type I from 1975 to 2014 on Pubmed, isolated cases of CRPS type I of lower extremity have also been reported following knee surgeries and arthroscopies. This report presents a case of lower limb CRPS type I following blunt trauma to right foot, treatment of which was directed towards management of allodynia, vasomotor symptoms and surgical correction of deformity which had developed because of the disease, coping mechanisms were also reinforced through counselling and relaxation training. The individual responded well to treatment with a reported 75% reduction in the disabling symptoms and improvement in ambulatory status.

scholarly journals Two-Year Outcome of Aflibercept for the Treatment of Choroidal Neovascularization in Punctate Inner Choroidopathy

2019 ◽  
Vol 10 (1) ◽  
pp. 24-31 ◽  
Author(s):  
Luis Arrevola ◽  
María Almudena Acero ◽  
María Jesús Peral
Keyword(s):  
Visual Acuity ◽  
Case Report ◽  
Choroidal Neovascularization ◽  
Single Case ◽  
Case Reports ◽  
Oral Prednisone ◽  
Case Series ◽  
Punctate Inner Choroidopathy ◽  
Single Case Report ◽  
The Right

Punctate inner choroidopathy (PIC) is a rare inflammatory chorioretinopathy that predominantly affects young myopic women. Visual prognosis is generally good, but occurrence of choroidal neovascularization (CNV) is common and may be vision threatening. Case reports and short case series support the effectiveness of intravitreal anti-vascular endothelial growth factor (VEGF) agents (ranibizumab and bevacizumab) for CNV associated with PIC given their anti-angiogenic and anti-inflammatory effects. Evidence concerning aflibercept, a more recent intravitreal anti-VEGF, is limited to a single case report. In this case report, we illustrate the case of a 43-year-old myopic woman presenting with visual acuity loss and distortion in the right eye over the last 5 days in whom CNV associated with PIC was diagnosed. Treatment with 1 injection per month of intravitreal aflibercept for 2 months and full-dose oral prednisone for 1 week, being tapered afterwards, improved visual acuity and resolved CNV, with benefits lasting up to 24 months.

scholarly journals Determinants and outcome of periocular dirofilariasis in a cohort of patients with demonstrable live worm from the ocular and adnexal parasitic granulomas

2016 ◽  
Vol 15 (1) ◽  
pp. 15-24
Author(s):  
Padma Balagopal Prabhu ◽  
Kuzhupally Vallon Raju
Keyword(s):  
Immune Response ◽  
Case Report ◽  
Early Detection ◽  
Effective Treatment ◽  
Case Series ◽  
Medial Canthus ◽  
Diagnostic Features ◽  
Live Worm ◽  
Predictable Pattern ◽  
High Index Of Suspicion

Purpose: We attempt to describe the unique diagnostic features of dirofilariasis affecting the eye, a rare disease caused by the nematode dirofilaria repens. Case report: The cohort includes 5 adult cases of ocular dirofilariasis. Migratory oedema was present in all but one case. The occurrence of the lesions near the medial canthus in all the cases including subconjunctival mass suggests predictable pattern of migration of the worm. Absence of systemic eosinophila and lack of marked eosinophilic infiltration around the parasitic granuloma in histopathology indicates alternative immune response against the parasite. Persistence of live worm despite antihelminthic drugs can be accounted by the presence of a thick capsule which protects the filaria against adulticidal and larvicidal drugs. Surgical exicision was curative in all cases.Conclusion: Our case series points to the importance of having high index of suspicion and early detection of ocular dirofilariasis as it is amenable to simple and effective treatment.

Visibility of Transcondylar Screw Fractures in Standard and Extended Scale Computed Tomography Images

2021 ◽  
Author(s):  
Robert Brash ◽  
Jose Labrador ◽  
Andrew Holdsworth
Keyword(s):  
Computed Tomography ◽  
Case Report ◽  
Single Case ◽  
Case Series ◽  
Implant Failure ◽  
Metal Implant ◽  
Single Case Report ◽  
Computed Tomography Images ◽  
Design Case ◽  
Extended Scale

Abstract Objective Application of extended computed tomography scale (ECTS) reconstruction to diagnose metal implant failure has been described in a single case report. The purpose of this study was to compare the features and visibility of humeral transcondylar screw fractures in standard CT scale (SCTS) and ECTS images. Study Design Case series: CT images of dogs with fractured transcondylar screws were retrospectively reviewed and described in both SCTS and ECTS images. Results Five dogs with a total of six transcondylar screw failures (five right and one bilateral) were reviewed. All cases had an ongoing humeral intercondylar fissure with varying degrees of stress remodelling. The fracture was seen in all screws on ECTS images, however only in three implants on SCTS images. The measured fracture gap was larger in ECTS images in all cases (range: + 0.14 mm to + 0.28mm). The three smallest fracture gaps were not seen on SCTS images. A subtle hypoattenuating streak (artefact) was visible adjacent to the screw fracture in 5/6 of cases using SCTS images. All screw fractures occurred parallel and often slightly medial to the humeral intercondylar fissure. Conclusion Implant failure is only seen with larger fracture gaps in SCTS images, with 3/6 screw fractures not visible in SCTS compared with ECTS. A hypoattenuating streak extending perpendicular to the implant in SCTS images is suggestive of screw fracture even if this is not directly visible.

scholarly journals A84 LINITIS PLASTICA FROM A NON-GASTROINTESTINAL PRIMARY TUMOR: A CASE REPORT

2020 ◽  
Vol 3 (Supplement_1) ◽  
pp. 98-99
Author(s):  
J Ghaith ◽  
I Alhafid ◽  
F Habal
Keyword(s):  
Breast Cancer ◽  
Case Report ◽  
Breast Carcinoma ◽  
Complete Blood Count ◽  
Gastric Wall ◽  
Linitis Plastica ◽  
Clinical Syndrome ◽  
Screening Tests ◽  
Lobular Breast Cancer ◽  
Diagnostic Features

Abstract Background Infiltrative malignancies to the stomach are unusual and are difficult to detect. Linitis Plastic is a syndrome caused by submucosal invasion of the gastric wall. It represents Bormann type III or IV of gastric adenocarcinoma. Uncommonly, the latter can be a manifestation of lobular breast cancer. Aims To present a case report of lobular breast cancer that manifested primarily as Linitis Plastica (LP). We review the literature of LP as a clinical syndrome and the diagnostic challenges associated with this condition. We aim to increase the awareness of LP as a non-gastric tumor and its endoscopic features. Methods - Results A seventy-two-year-old female patient, previously healthy, presented with general deconditioning and distended abdomen. Basic laboratory testing such as complete blood count, electrolytes and kidney function were normal. Computed tomography of the abdomen and pelvis revealed moderately sized peritoneal carcinomatosis deposits on the abdominal wall. Her family history was non-contributary for any gastrointestinal or gynecological malignancies. On review of system, the patient noted a history of successful eradication of Helicobacter pylori infection remotely. Additionally, no preceding age-appropriate malignancy screening tests were reported. A gastroscopy was done looking for a primary gastrointestinal tumor exhibited abnormally stiff gastric wall, erythematous thickened mucosal folds, and non-distensible stomach. No clear lesions, submucosal masses or ulcers were visualized. The duodenal mucosa was noted to be normal. Twelve deep random biopsies were retrieved from the mucosal body and fundus. Following immunohistochemistry, the histological diagnosis revealed lobular adenocarcinoma of the breast. Conclusions Linitis Plastica (leather bottle stomach) or Brinton disease is a rare entity of diffuse gastric mucosa infiltrating tumor. LP depicts 3–10% of primary gastric carcinoma, whilst less than 10% are secondary breast cancer. Endoscopically, breast cancer-related LP can be divided into two morphologies: nodular pattern with ulceration, which is the typical presentation of ductal breast carcinoma and diffuse mural pattern in lobular breast carcinoma. LP is a unique condition with challenging diagnostic features. Many biopsies can result in negative histopathological diagnoses. This can be explained partially by 1. The scirrhous and fibrous stroma that forms LP tumors. 2. The deep location in the submucosa and muscular layer of the gastric wall. 3. Inability to identify this entity endoscopically. In one case report, Endoscopic Ultrasound-Fine Needle Aspirate (EUS-FNA) was incorporated after negative obtained biopsies. There are no standardized diagnostic approaches for LP. Further studies inquiring rates of missed malignant diagnoses and optimum diagnostic assessments in the setting of LP are needed. Funding Agencies None

scholarly journals Verrucous Oesophageal Carcinoma: Single Case Report and Case Series Including 15 Patients - Issues for Consideration of Therapeutic Strategies

2014 ◽  
Vol 30 (5) ◽  
pp. 7-7 ◽  
Author(s):  
Angelika Behrens ◽  
Manfred Stolte ◽  
Oliver Pech ◽  
Andrea May ◽  
Christian Ell
Keyword(s):  
Case Report ◽  
Single Case ◽  
Case Series ◽  
Oesophageal Carcinoma ◽  
Therapeutic Strategies ◽  
Single Case Report
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