Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0036572 (seizures)
 80,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Background Carotid cavernous fistulas (CCFs) Barrow type 'B' are dural shunts between the meningeal branches of the internal carotid artery and the cavernous sinus. The symptoms include vision deterioration, ophthalmoplegia with diplopia, exophthalmos, conjunctival injection, chemosis, ocular bruit, seizures, or neurological deficit. Endovascular treatment remains the gold standard for treatment through the transvenous or transarterial routes. The transvenous approaches have been proved to be the first option. Endovascular access through the superior ophthalmic vein (SOV) or inferior petrosal sinus have been widely used. The problem arises when there is no vascular access. For these cases, different approaches have been described, such as: direct access to the SOV; combining direct access to the SOV along with blind probing of the proximal occluded SOV; and a direct puncture of the cavernous sinus. But these techniques are very aggressive and can cause serious complications. As a result of the above, we describe a new alternative technique, which is effective and less invasive for the treatment of these special cases. Case reports We report two cases of Barrow type 'B' CCFs that did not have vascular access (neither arterial nor venous) to embolise fistulas with coils or glue, and which were successfully resolved with a flow diverter (Pipeline) stent in the internal carotid artery. To our knowledge, this treatment has not previously been described for this pathology. Conclusions The placement of a flow diverter stent in the internal carotid artery is an effective alternative technique in those cases of Barrow type 'B' CCFs that have no vascular access (neither venous nor arterial).
 ...
PMID:Treatment of Barrow type 'B' carotid cavernous fistulas with flow diverter stent (Pipeline). 2837 16

We present case reports of 2 pediatric patients who were both found to have pial arteriovenous fistulas (AVFs) with subsequent genetic analysis revealing mutations in the RASA1 gene. Considering their family history of distinct cutaneous lesions, these mutations were likely inherited as opposed to de novo mutations. Patient 1 had large capillary malformations on the left side of the face and neck, associated with macrocephaly, and presented at the age of 32 months with speech delay, right-sided weakness, and focal seizures involving the right side of the body. Patient 2 presented with proptosis at the age of 9 months, but was otherwise neurologically intact. Given the chance for definitive single-stage control of vascular shunt (obviating chances for radiation exposure with endovascular treatment) and surgically accessible location of these intracranial lesions, both patients were treated with surgery with excellent clinical and radiological outcome. In general, given the high mortality secondary to severe congestive heart failure when treated conservatively, the goal of treatment in cortical AVF in young children, even when asymptomatic, is rapid control of the shunt. This was achieved successfully in our cases - both patients experienced significant symptomatic improvement following surgery and remained neurologically stable in the subsequent follow-up visits.
 ...
PMID:Pial Arteriovenous Fistula and Capillary Malformation-Arteriovenous Malformation Associated with RASA1 Mutation: 2 Pediatric Cases with Successful Surgical Management. 2855 78

An approximately 10-year-old, female Congo African grey parrot ( Psittacus erithacus erithacus) developed progressive, unilateral exophthalmos and buphthalmos. Survey radiographs revealed a large, coelomic, soft tissue mass, which was confirmed on computed tomography scan. Aspirates of both the contents of the buphthalmic globe and coelomic mass were consistent with Cryptococcus species. Initial results were later confirmed with serum antigen latex agglutination and polymerase chain reaction testing, and the organism was then identified as Cryptococcus neoformans with DNA sequencing. During the course of 1 year, the bird was treated with combinations of oral terbinafine, fluconazole, and flucytosine, as well as intraocular amphotericin B. The coelomic mass dramatically decreased in size during the course of treatment, but the globe continued to enlarge. The bird died after exhibiting ataxia and seizures approximately 13 months after initial diagnosis, and necropsy confirmed colonization of the cerebrum and meninges with Cryptococcus. Cryptococcus remains a rare fungal disease of birds that is often refractory to treatment.
 ...
PMID:Multicentric Cryptococcosis in a Congo African Grey Parrot ( Psittacus erithacus erithacus). 2932 53

Introduction Orbital meningoencephalocele formation is primarily a result of congenital defects in the pediatric population and trauma of the anterior cranial fossa in adults. We present a unique case of nontraumatic nasal and orbital meningoencephaloceles presenting as bilateral proptosis with exotropia secondary to chronic hydrocephalus. Clinical presentation A 20-year-old male with a history of tuberous sclerosis, X-linked intellectual disability, and epilepsy presented to the emergency department with two days of nausea, emesis, seizures, and two months of progressive proptosis. Initial radiographs of the skull showed a "copper beaten" appearance, indicating chronically elevated intracranial pressure. Computed tomography imaging of the head demonstrated bilateral defects in the cribriform plate and anterior cranial fossa. Magnetic resonance imaging of the brain revealed triventricular hydrocephalus with meningoencephalocele extension into the nasal cavity and frontal horn herniation into the extraconal space of the orbits. The hydrocephalus was managed with ventriculoperitoneal shunt placement with rapid and complete resolution of the proptosis. Conclusion No reports have described bilateral proptosis as the presenting finding of orbital and nasal meningoencephaloceles in the absence of trauma or congenital defect. This case study demonstrates the management of meningoencephalocele formation secondary to chronic hydrocephalus.
 ...
PMID:Orbital and nasal meningoencephaloceles secondary to chronic hydrocephalus: A rare cause of bilateral proptosis. 2988 88


<< Previous 1 2 3 4