Search results for "Rare syndrome"
showing 5 items of 5 documents
Posttraumatic carotid-cavernous fistula: Pathogenetic mechanisms, diagnostic management and proper treatment. A case report.
2016
Journal Article; UNLABELLED Carotid-cavernous fistulas are an uncommon diseases characterized by abnormal communications between arteries and veins located in the cavernous sinus. According with Barrow´s classification they could be divided in two groups: direct and indirect. The typical symptoms showed by theses pathologies are: pulsating exophthalmos and orbital blow. The present study describes a case of direct posttraumatic carotid-cavernous fistula in a 26 years old man. Furthermore, we present the images that we used to make the diagnosis. In this light, we decided to treat this case with endovascular approach after considering several therapeutic options. The aim of the present repor…
Benign myoclonic epilepsy in infancy: neuropsychological and behavioural outcome
2003
Benign myoclonic epilepsy in infancy (BMEI) is a rare syndrome of idiopathic generalized epilepsies with onset below 3 years of age. It has been reported that BMEI is associated with a good prognosis, however, recently some studies suggest less favourable neuropsychological outcome. We report a long-term follow-up of seven patients with BMEI. Seizure outcome and neuropsychological, cognitive, and behavioural evolution were discussed for each of them. At the end of follow-up, 86% of children showed neuropsychological and intellectual disorders: two children had mental retardation, three patients achieved a borderline IQ and one normal but low IQ. All but one displayed neuropsychological disa…
Benign myoclonic epilepsy in infancy followed by childhood absence epilepsy
2011
Abstract Benign myoclonic epilepsy in infancy (BMEI) is a rare syndrome included among idiopathic generalized epilepsies (IGE) and syndromes with age-related onset. Recently, it has been shown that a few patients with BMEI later had other epilepsy types mainly IGE but never childhood absence epilepsy (CAE). We report a patient who at 11 months of age showed isolated myoclonic jerks occurring several times a day. The ictal video-EEG and polygraphic recording revealed generalized discharge of spike-wave (SW) lasting 1–2s associated with isolated bilateral synchronous jerk involving mainly the upper limbs controlled by valproic acid (VPA). At 6 years and 8 months the child developed a new elec…
Traumatic arteriovenous fistula as consequence of TMJ arthroscopic surgery. A case report
2016
The ocurrence of a traumatic arteriovenous fistula after arthroscopic surgery of TMJ represents an extremely rare event. Specifically, this uncommon complication has been described only in a few case reports. In this light, the most frequent symptoms showed by this disease are thrills, bruits, pulsatile tinnitus, and an expansible vascular mass. Importantly, the severity of these symptoms is also dependent on the vessels involved. With regard to the management, is important to note that the vessel ligation with surgery as well as vessel emolization with endovascular procedures have been shown to be effective in the treatment of these cases. In view of that, the present study describes a cas…
Arthroscopic approach for treating a pigmented villonodular sinovitis of TMJ. A case report
2017
The present report describes the case of a 29-year-old man referred to our service for TMJ pain and progressive reduction of the mouth opening. Differential diagnostics included rheumatologic diseases, monoarthritis and intraarticular lumps. In this line, a face CT scan and a MRI of TMJ were carried out in order to ensure a proper diagnosis. These tests showed a solid lesion into the joint cavity. In view of that, we decided to perform a diagnostic and therapeutic arthroscopy of TMJ. Histopathological studies confirmed the diagnosis of pigmented villonodular synovitis. The main aim of this report is to describe this rare syndrome with the goal of proposing suitable treatments. Moreover, we …