Atypical unilateral exudative retinal detachment in a child affected by tuberous sclerosis

2020 ◽  
pp. 112067212098095
Author(s):  
Michele Coppola ◽  
Barbara Cavallotti ◽  
Martina Suzani ◽  
Alessandro Marchese ◽  
Francesco Bandello
Keyword(s):  
Tuberous Sclerosis ◽  
Optic Disc ◽  
Genetic Diseases ◽  
Exudative Retinal Detachment ◽  
Resonance Imaging ◽  
Fiber Layer ◽  
Temporal Area ◽  
The Central Nervous System ◽  
Macular Star ◽  
Retinal Vascular Tortuosity

Introduction: Tuberous sclerosis complex (TSC) is a rare hereditary phakomatosis. The clinical features can include benign growths in the central nervous system, tumors of various visceral organs, and retinal or optic disc astrocytic hamartomas in the nerve fiber layer. Here we present the case of a child with known TSC developing Coats-like manifestations. Case description: A 22-month-old girl with known TSC and retinal hamartoma followed since birth presented for the development of exotropia and leukocoria in the left eye. Fundus examination of the left eye showed blurred optic disc, macular star, and yellow retinal exudation in the temporal area. In addition, the left eye showed marked retinal vascular tortuosity and telangiectasias. The patient underwent brain and orbit magnetic resonance imaging, revealing heterotopic gray matter nodulations along ependyma of both lateral ventricles, with partial calcification, and a posterior flattening of the left eye. Conclusion: This report shows a rare case of Coats-like disease in a child with tuberous sclerosis. In case of presence of Coats’ manifestations associated with atypical retinal or systemic findings, genetic diseases should be considered in the differential diagnosis.

scholarly journals Ocular Burkholderia pseudomallei, a rare variant in presentation – a case series

2020 ◽  
Vol 16 (3) ◽  
pp. 329-333
Author(s):  
Saidatulakma Shariff ◽  
◽  
Muhammad Ikmal Mohamad Kamil ◽  
Wan Norliza Wan Muda ◽  
Akmal Haliza Zamli ◽  
...  
Keyword(s):  
Retinal Detachment ◽  
Optic Disc ◽  
Burkholderia Pseudomallei ◽  
Case Series ◽  
Sudden Onset ◽  
Exudative Retinal Detachment ◽  
First Case ◽  
History Of ◽  
Macular Star ◽  
High Index Of Suspicion

Burkholderia pseudomallei is Gram-negative anaerobe causing melioidosis. We report a case series including three cases of rare ocular presentations in patients with positive melioidosis serology in the state of Pahang, Malaysia. The first case involved a 32-year-old male with a sudden onset of painless decrease in vision in the left eye, with a history of swimming in a river. Eye examination revealed a choroidal abscess with inferior retinal detachment. The second case was that of a 14 year-old-male patient with painless reduction of vision in the left eye and a history of parotid gland swelling. Eye fundus examination showed optic disc swelling with macular star. The third case, a 10-year-old male, presented with left eye optic disc granuloma and subtotal exudative retinal detachment with vasculitis. The three cases were successfully treated with the antibiotic ceftazidime. Ocular melioidosis should always be taken into consideration in any patient with suspected infectious uveitis. A high index of suspicion is required to initiate early and prompt treatment.

New Advanced Strategies for the Treatment of Lysosomal Diseases Affecting the Central Nervous System

2019 ◽  
Vol 25 (17) ◽  
pp. 1933-1950 ◽  
Author(s):  
Maria R. Gigliobianco ◽  
Piera Di Martino ◽  
Siyuan Deng ◽  
Cristina Casadidio ◽  
Roberta Censi
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Polymeric Nanoparticles ◽  
Genetic Diseases ◽  
Point Of View ◽  
Lysosomal Storage ◽  
Enzyme Replacement ◽  
Lysosomal Diseases ◽  
The Central Nervous System ◽  
Enzyme Delivery

Lysosomal Storage Disorders (LSDs), also known as lysosomal diseases (LDs) are a group of serious genetic diseases characterized by not only the accumulation of non-catabolized compounds in the lysosomes due to the deficiency of specific enzymes which usually eliminate these compounds, but also by trafficking, calcium changes and acidification. LDs mainly affect the central nervous system (CNS), which is difficult to reach for drugs and biological molecules due to the presence of the blood-brain barrier (BBB). While some therapies have proven highly effective in treating peripheral disorders in LD patients, they fail to overcome the BBB. Researchers have developed many strategies to circumvent this problem, for example, by creating carriers for enzyme delivery, which improve the enzyme’s half-life and the overexpression of receptors and transporters in the luminal or abluminal membranes of the BBB. This review aims to successfully examine the strategies developed during the last decade for the treatment of LDs, which mainly affect the CNS. Among the LD treatments, enzyme-replacement therapy (ERT) and gene therapy have proven effective, while nanoparticle, fusion protein, and small molecule-based therapies seem to offer considerable promise to treat the CNS pathology. This work also analyzed the challenges of the study to design new drug delivery systems for the effective treatment of LDs. Polymeric nanoparticles and liposomes are explored from their technological point of view and for the most relevant preclinical studies showing that they are excellent choices to protect active molecules and transport them through the BBB to target specific brain substrates for the treatment of LDs.

scholarly journals Malignant Solitary Fibrous Tumor of the Right Cerebellum: A Case Report

2021 ◽  
Vol 13 (1) ◽  
pp. 259-266
Author(s):  
Ye-Tao Zhu ◽  
Yang Liu ◽  
Li-Gang Chen ◽  
Da-Ping Song
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Solitary Fibrous Tumor ◽  
Immunohistochemical Staining ◽  
Biological Behavior ◽  
Resonance Imaging ◽  
Solitary Fibrous Tumors ◽  
The Central Nervous System ◽  
Fibrous Tumor ◽  
The Right

Solitary fibrous tumor is a very rare mesenchymal tumor that occurs mostly in the pleura, and there are few reported cases of a presence in the central nervous system, particularly in the cerebellum. In 2016, the WHO classified solitary fibrous tumors into grade I. In this article, we present a case of malignant solitary fibrous tumor recurring 8 years after surgery in a 63-year-old male. Magnetic resonance imaging showed low to intermediate mixed signal intensity on T1W1. Immunohistochemical staining positivity for Vimentin, CD99, CD34 and Bcl-2, it is consistent with the immunohistochemical characteristics of solitary fibrous tumor. We resected the patient’s tumor, and the patient was followed up for 3 months with no signs of recurrence. Solitary fibrous tumors are very rare in the central nervous system. Immunohistochemical staining positivity for CD34 and Bcl-2 is strongly expressed in most solitary fibrous tumor. Surgical resection is the preferred treatment. Due to the small number of cases, the biological behavior and prognosis of this tumor need to be further explored.

scholarly journals Magnetic resonance imaging for smoking abstinence: symptoms, mechanisms, and interventions

2021 ◽  
Vol 7 (2) ◽  
pp. 75-96
Author(s):  
Yanzhi Bi ◽  
Li Hu
Keyword(s):  
Magnetic Resonance Imaging ◽  
Smoking Cessation ◽  
Magnetic Resonance ◽  
Neural Substrates ◽  
Adverse Outcomes ◽  
Smoking Abstinence ◽  
Resonance Imaging ◽  
Functional Changes ◽  
Quit Attempts ◽  
The Central Nervous System

Tobacco smoking is the leading preventable cause of morbidity and mortality worldwide. Although a number of smokers are aware of the adverse outcomes of smoking and express a strong desire to stop smoking, most smoking quit attempts end in relapse within the first few days of abstinence, primarily resulting from the aversive aspects of the nicotine withdrawal syndrome. Therefore, studying the neural mechanisms of smoking abstinence, identifying smokers with heightened relapse vulnerability prior to quit attempts, and developing effective smoking cessation treatments appear to be promising strategies for improving the success of quit attempts. In recent years, with the development of magnetic resonance imaging, the neural substrates of smoking abstinence have become extensively studied. In this review, we first introduce the psychophysiological changes induced by smoking abstinence, including affective, cognitive, and somatic signs. We then provide an overview of the magnetic resonance imaging-based evidence regarding abstinence-related functional changes accompanied by these psychophysiological changes. We conclude with a discussion of the neural markers that could predict relapse during quit attempts and a summary of the psychophysiological interventions that are currently often used to help with smoking cessation. This review extends our understanding of the role of the central nervous system in smoking abstinence.

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