scholarly journals Intermediate uveitis in a child with phosphatase and tensin homolog gene mutation and Bannayan-Riley-Ruvalcaba syndrome

2019 ◽  
Vol 12 (2) ◽  
pp. bcr-2017-224079
Author(s):  
Daphna Prat ◽  
Iris Ben Bassat Mizrachi ◽  
Vicktoria Vishnevskia-Dai
Keyword(s):  
Young Children ◽  
Gene Mutation ◽  
Inflammatory Cells ◽  
Intermediate Uveitis ◽  
Phosphatase And Tensin Homolog ◽  
Tensin Homolog ◽  
Ophthalmic Manifestations ◽  
First Case ◽  
Pars Plana

Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a congenital disorder characterised by macrocephaly, multiple hamartomas, lipomas, and pigmented macules of the glans penis. Intermediate uveitis is characterised by chronic inflammatory cells aggregates on the pars plana (snowbanks) and within the vitreous cavity (snowballs). We describe what we believe to be the first case of intermediate uveitis associated with BRRS. Early examination under anaesthesia should be considered in the management of young children diagnosed with this syndrome in order to provide appropriate ocular evaluation, treatment and follow-up. Further research is needed to establish a better understanding of the ophthalmic manifestations of this syndrome.

scholarly journals Testicular pain as a presentation of Cowden syndrome

2011 ◽  
Vol 93 (5) ◽  
pp. e51-e52 ◽  
Author(s):  
Hussain M Alnajjar ◽  
Arun Sahai ◽  
Andrew Keane ◽  
Stephen Gordon
Keyword(s):  
Cowden Syndrome ◽  
Limited Information ◽  
Nodular Goitre ◽  
Phosphatase And Tensin Homolog ◽  
Testicular Pain ◽  
Left Testicle ◽  
Tensin Homolog ◽  
History Of ◽  
Multiple Hamartoma Syndrome

This case report outlines a rare case in Cowden syndrome and PTEN (phosphatase and tensin homolog) gene mutation and how it may initially present to the urologist. Also known as multiple hamartoma syndrome, Cowden syndrome is a rare disorder associated with the development of several types of malignancy. A thorough search of the literature reveals limited information regarding its presentation to the urologist. We report the case of a 47-year-old gentleman with a two-week history of worsening pain and swelling in his left testicle. Testicular ultrasound revealed multiple hyperechoic areas bilaterally suggestive of multiple lipomas. He was also found to have macrocephaly, freckling of his glans and foreskin and an enlarged nodular goitre and the geneticist diagnosed Cowden syndrome. The disease is discussed and guidance is given on its management and follow up.

Complex dural arteriovenous fistula in Bannayan-Riley-Ruvalcaba syndrome

2013 ◽  
Vol 12 (1) ◽  
pp. 87-92 ◽  
Author(s):  
Karam Moon ◽  
Andrew F. Ducruet ◽  
R. Webster Crowley ◽  
Kathleen Klas ◽  
Ruth Bristol ◽  
...  
Keyword(s):  
High Risk ◽  
Arteriovenous Fistula ◽  
Dural Arteriovenous Fistula ◽  
Signs And Symptoms ◽  
Pseudotumor Cerebri ◽  
Symptomatic Improvement ◽  
Vascular Imaging ◽  
Phosphatase And Tensin Homolog ◽  
Tensin Homolog

In this paper the authors report the case of a complex dural arteriovenous fistula (dAVF) with high-risk features in a 14-year-old girl with Bannayan-Riley-Ruvalcaba syndrome (BRRS), a phosphatase and tensin homolog–associated syndrome, presenting with signs and symptoms of increased intracranial pressure (ICP) that had previously been attributed to pseudotumor cerebri. This fistula was obliterated following 2 stages of embolization, and the patient experienced immediate symptomatic improvement. At the 2-month follow-up evaluation, the fistula remained angiographically occluded, and her symptoms continue to improve. This is the third reported case of an intracranial dAVF in a patient with BRRS. Because high-risk dAVFs can result in devastating morbidity, early detection with vascular imaging is crucial for patients with BRRS presenting with signs of increased ICP. Goals of treatment should include complete fistula obliteration whenever possible.

scholarly journals Lymphoplasmacyte-Rich Meningioma of the Third Ventricle: Case Report

2020 ◽  
Vol 39 (02) ◽  
pp. 149-153 ◽  
Author(s):  
Marcelo Paglioli Ferreira ◽  
Eduardo Cambruzzi ◽  
Otávio Garcia Martins ◽  
Guilherme Gago ◽  
Antônio Delacy Martini Vial
Keyword(s):  
Third Ventricle ◽  
Inflammatory Cells ◽  
Medical Attention ◽  
Transcallosal Approach ◽  
Visual Deficits ◽  
The Third ◽  
First Case ◽  
Cystic Component ◽  
The Brain

Abstract Introduction Meningiomas are the most common primary intracranial tumors, accounting for up to 35% of the neoplasms in this category. Approximately 10–20% of these neoplasms are histologically atypical, and the lymphoplasmacyte-rich meningioma (LPM) corresponds to a very rare subtype of meningioma that is characterized histopathologically by massive infiltrates of inflammatory cells. The case described in the present study is the sixth case of an intraventricular LPM found in the literature and the first case considering the location in the third ventricle. Case Description A 21-year-old male without previous comorbidities sought medical attention due to visual impairment (complaining of intermittent visual blur) for 2 months. A magnetic resonance imaging of the brain confirmed the presence of a well-delimited solid mass in the third ventricle of 3.0 × 2.3 cm with a cystic component that extended itself inferiorly and distorted the visual pathway anatomy. Neurosurgeons decided to access the lesion using an interhemispheric transcallosal approach with a transforaminal access, and the lesion was resected completely. The patient has an ambulatorial endocrinological follow-up and is neurologically stable 6 months after the procedure. No new visual deficits were noted. Conclusion Lymphoplasmacyte-rich meningioma is a very rare intracranial tumor, and the involvement of the third ventricle make this case unique

Instruction Helps and Hinders Young Children’s Feature Learning

2018 ◽  
Author(s):  
Charles Kalish ◽  
Nigel Noll
Keyword(s):  
Young Children ◽  
Feature Learning ◽  
Irrelevant Information ◽  
Diagnostic Feature ◽  
Older Children ◽  
Prediction Task ◽  
Feature Correlation ◽  
The Future

Existing research suggests that adults and older children experience a tradeoff where instruction and feedback help them solve a problem efficiently, but lead them to ignore currently irrelevant information that might be useful in the future. It is unclear whether young children experience the same tradeoff. Eighty-seven children (ages five- to eight-years) and 42 adults participated in supervised feature prediction tasks either with or without an instructional hint. Follow-up tasks assessed learning of feature correlations and feature frequencies. Younger children tended to learn frequencies of both relevant and irrelevant features without instruction, but not the diagnostic feature correlation needed for the prediction task. With instruction, younger children did learn the diagnostic feature correlation, but then failed to learn the frequencies of irrelevant features. Instruction helped older children learn the correlation without limiting attention to frequencies. Adults learned the diagnostic correlation even without instruction, but with instruction no longer learned about irrelevant frequencies. These results indicate that young children do show some costs of learning with instruction characteristic of older children and adults. However, they also receive some of the benefits. The current study illustrates just what those tradeoffs might be, and how they might change over development.

The Importance of Fluconazole in Treatment of Endogenous Endophtalmitis in Patients Prior Treated Using Negative Pressure Therapy for Wound Closure Contaminated with Meticillin-resistant Staphylococcus aureus

2017 ◽  
Vol 68 (7) ◽  
pp. 1598-1601 ◽  
Author(s):  
Anisia Iuliana Alexa ◽  
Roxana Ciuntu ◽  
Alina Cantemir ◽  
Nicoleta Anton ◽  
Ciprian Danielescu ◽  
...  
Keyword(s):  
Antifungal Agents ◽  
Fungal Infections ◽  
Prolonged Treatment ◽  
Endogenous Endophthalmitis ◽  
Pressure Therapy ◽  
First Case ◽  
Severe Infections ◽  
Pars Plana ◽  
Delay In Treatment ◽  
Vitreous Biopsy

Severe infections with C. albicans should be treated promptly with antifungal agents, any delay in treatment increases the risk of endophthalmitis. The systemic Amphotericin B therapy is the gold standard in the treatment of endophthalmitis, but in the case of fungal infections it has not yet been determined. Numerous studies have shown that the use of Fluconazole is effective in the treatment of fungal endophthalmitis. In this paper, we report two cases (3 eyes) that have been presented for the same accusations of significant decrease of AV (visual acuity), ocular pain and blepharospasm suddenly installed, both of which required urgent antibiotic and intravenous antifungal treatment. Both are diagnosed with endogenous endophthalmitis and vitreous biopsy + VPP (pars plana vitrectomy) are performed, with a negative result of the vitreous culture. In both situations the treatment was with antibiotic and systemic antifungals. Postoperatively, evolution was favorable in the first case and less favorable in the second one. The prognosis depends on the virulence of the microorganisms and the time elapsed until initiation of the treatment. Also, the presence of risk factors such as diabetes, sepsis, recent abdominal surgery (C. Albicans is part of the comesary flora of the digestive tract) have influenced the prognosis decisively. Severe infections with C. albicans should be promptly treated with antifungal agents, any delay in treatment increases the risk of endophthalmitis. Even when prolonged treatment of candidemia is instituted, 3% of patients can develop endogenous endophthalmitis, so ocular evaluation is particularly important for patients immobilized in anesthesia and intensive care units.

Sign in / Sign up

Export Citation Format

Share Document