scholarly journals 5-year Progression of CADASIL: A Case Report

Author(s):  
Hong Chuan Loh ◽  
Kah Hay Yuen ◽  
Irene Looi

A female patient in her 40’s of mixed Chinese-Indian ancestry was referred to our neurology clinic for frequent migraine with aura and CADASIL. She had been treated for acute encephalopathy in 2014. The incident led to her CADASIL diagnosis and later retinitis pigmentosa, both rare conditions. Initial clinical assessment showed moderate severity of migraine and normal cognitive function. As there is no specific treatment recommended for CADASIL, the patient was maintained on pharmacological therapies for secondary prevention of ischaemic stroke, treatment of seizure, symptomatic treatment for migraine and a cholesterol-lowering drug. A supplement containing Vitamin E (tocotrienols) was recommended. During the ensuing 5-years, there were no further neurovascular incidents and her migraine went into full remission.

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
M. C. Martín-Soberón ◽  
S. Ruiz ◽  
G. De Velasco ◽  
R. Yarza ◽  
A. Carretero ◽  
...  

Abstract Background Pneumatosis intestinalis (PI) is a rare entity which refers to the presence of gas within the wall of the small bowel or colon which is a radiographic sign. The etiology and clinical presentation are variable. Patients with PI may present either with chronic mild non-specific symptoms or with acute abdominal pain with peritonitis. Some cases of intestinal pneumatosis have been reported as adverse events of new oncological treatments such as targeted therapies that are widely used in multiple tumors. Case presentation A 59-year-old caucasian female with radioactive iodine-refractory metastatic thyroid papillary carcinoma with BRAFV600E mutation was treated with dabrafenib and trametinib as a compassionate use. After 4 months treatment, positron emission tomography–computed tomography (PET–CT) showed PI. At the time of diagnosis, the patient was asymptomatic without signs of peritonitis. The initial treatment was conservative and no specific treatment for PI was needed. Unfortunately, after dabrafenib–trametinib withdrawal, the patient developed tumor progression with significant clinical worsening. Conclusions This case report is, in our knowledge, the first description of PI in a patient treated with dabrafenib–trametinib. Conservative treatment is feasible if there are no abdominal symptoms.


2016 ◽  
Vol 17 (4) ◽  
pp. 434-438 ◽  
Author(s):  
Ritchell van Dams ◽  
Henry S. Park ◽  
Ahmed K. Alomari ◽  
Adele S. Ricciardi ◽  
Harini Rao ◽  
...  

This case report demonstrates that hypofractionated partial-brain radiation therapy with limited margins is a reasonable approach following gross tumor resection of Ewing sarcoma metastases to the brain. The patient presented with 2 intracranial metastases treated with gross-total resection followed by radiation therapy to 30 Gy in 5 fractions. The patient experienced symptomatic treatment-related inflammatory changes with resolution after receiving dexamethasone. He remains alive at 21 months of follow-up with no evidence of disease.


Epilepsia ◽  
2010 ◽  
Vol 51 (9) ◽  
pp. 1886-1888 ◽  
Author(s):  
Masaru Takayanagi ◽  
Kazuhiro Haginoya ◽  
Naoki Umehara ◽  
Taro Kitamura ◽  
Yurika Numata ◽  
...  

2021 ◽  
Vol 34 (11) ◽  
pp. 784
Author(s):  
Sofia R. Valdoleiros ◽  
Inês Correia Gonçalves ◽  
Carolina Silva ◽  
Diogo Guerra ◽  
Lino André Silva ◽  
...  

There are many native species of animals with the potential to cause severe disease in Portugal. Of the four clinically relevant snake species, the vipers (Vipera latastei and Vipera seoanei) are the most concerning. They can cause severe disease and require in-hospital management, monitoring and specific treatment, including the administration of anti-snake venom serum. The Malpolon monspessulanus and Macroprotodon brevis snakes cause mostly localized clinical manifestations, which do not require specific treatment. Only a minority of the spider species in Portugal possess chelicerae (mouthparts of the Chelicerata, shaped as either articulated fangs or pincers, which may contain venom or be connected to the venom glands and are used for predation or capture of food) long enough to perforate the human skin. Nevertheless, Latrodectus tredecimguttatus and Loxosceles rufescens spider bites may require specialized treatment in a hospital setting, as well as careful active symptom surveillance. Diversely, the treatment for Scolopendra cingulata and Scolopendra oraniensis centipedes’ bites is merely symptomatic. The only existing scorpion species in Portugal is the Buthus ibericus; its sting typically causes local symptoms with intense pain, and its treatment consists essentially of analgesia. The insects of the Hymenoptera order, such as bees and wasps, have the ability to inject venom into the skin. Most people present only with local or regional inflammatory response, and symptomatic treatment is usually effective. Even so, individuals with hypersensitivity to bee venom may develop anaphylaxis. Several marine species in the Portuguese coast are venomous to humans, including weeverfish (Trachinidae family), stingrays (Dasyatis pastinaca, Taeniura grabata, Myliobatis aquila), red scorpion fish (Scorpaena scrofa), cnidaria (Pelagia noctiluca, Chrysaora hysoscella, Physalia physalis) and bearded fireworm (Hermodice carunculata); treatment is symptomatic. Contact with the larvae or bristles (chitinous structures with locomotor or tactile functions) of Thaumetopoea pityocampa (pine processionary) can cause cutaneous, ocular and, rarely, respiratory reactions; its management is also symptomatic.


Author(s):  
Hailey Martin ◽  
Peter Akpunonu

Background: A Gar is a primarily freshwater fish that resides in North America. The flesh of a garfish is edible; however, the eggs and any meat surrounding the eggs are highly toxic to humans. The toxicity is induced by the protein ichthyotoxin. Case Report: The studied patient was an 18-year-old male who ingested 2-3 spoons full of gar eggs in their residence place. Each spoon full contained 40-50 eggs. The estimated total amount of consumed eggs equaled 3 teaspoons. Approximately one hour after eating the eggs, the patient began to feel unwell. Upon arrival at the local Children’s Hospital, the patient was experiencing nausea, vomiting, diarrhea, and sweating. Conclusion: Patients affected by gar eggs should be treated symptomatically, given there is no antidote or specific treatment for ichthyotoxin. Further research is required on the mechanism that makes ichthyotoxin toxic. Luckily, the presented patient presented no seizures due to the toxin and the care providers could manage the related symptoms.


2019 ◽  
Vol 59 (5) ◽  
pp. 274-278 ◽  
Author(s):  
Yuya Suzuki ◽  
Takao Fukushima ◽  
Takahiro Iwasawa ◽  
Gen Nakamura ◽  
Shigeki Nanasawa ◽  
...  

2017 ◽  
Vol 31 (1) ◽  
pp. 104-106 ◽  
Author(s):  
Kazuhiko Kido ◽  
Rickey A. Evans ◽  
Anil Gopinath ◽  
Jeremy D. Flynn

Summary: Hypertriglyceridemia and hyperlipidemia are the most remarkable metabolic complications seen with long-term sirolimus therapy. We report the case of a 36-year-old woman status post bilateral lung transplantation on a maintenance immunosuppression regimen of sirolimus, tacrolimus, and prednisone who presented with status migrainosus, chest pain, abdominal discomfort, and triglyceride levels greater than 4425 mg/dL. In previously reported cases of severe hypertriglyceridemia that developed on maintenance sirolimus therapy, plasmapheresis has been utilized as an early strategy to rapidly lower triglycerides in order to minimize the risk of acute complications such as pancreatitis, but our case was managed medically without plasmapheresis. The most recent triglyceride was down to 520 mg/dL 2 months after discontinuation of sirolimus. We estimate the probability of this reaction to sirolimus as probable based on a score of 5 points on the Naranjo scale. This is the first case report to our knowledge that highlights the sole use of oral lipid-lowering drug agents to treat severe hypertriglyceridemia secondary to sirolimus without the use of plasmapheresis. Conclusion: Sirolimus-induced severe hypertriglyceridemia can be managed with oral lipid-lowering agents without plasmapheresis. Clinician needs to be aware of the importance of baseline and regular triglyceride monitoring in patients on sirolimus.


2011 ◽  
Vol 2011 ◽  
pp. 1-3 ◽  
Author(s):  
Selim Yalcin ◽  
Selami Kocak Toprak ◽  
Betul Erismis ◽  
Ozden Altundag ◽  
Handan Ozdemir ◽  
...  

Kikuchi-Fujimoto disease, also known as histiocytic necrotizing lymphadenitis, is a self-limiting, benign, and rare systemic lymphadenitis with unknown etiology. The cardinal symptoms are fever, lymphadenopathy and night sweat; consequently, it is first necessary to rule out infectious, lymphoproliferative, and connective tissue diseases such as systemic lupus erythematosus. Histology can allow diagnosis by demonstrating necrotizing histiocyte lymphadenitis. Disease, which has no specific treatment, self-limits itself in 1 to 6 months clinically. However, non-steroid anti-inflammatory agents can be given for symptomatic treatment and there are reports using corticosteroids and antibiotics in complicated cases. This article concerns a 32-years-old female who diagnosed Kikuchi-Fujimoto disease and treated with glucocorticoid.


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