18 research outputs found

    Presentation of isolated trolard vein thrombosis with subarachnoid hemorrhage: a case report and review of literature

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    Cortical vein thrombosis (CVT) is uncommon and life threatening condition. It is usually secondary to the propagation of the clot from dural sinus to cortical vein, but isolated thrombosis of this vein is very rare. Usual symptoms include headache, sensory and motor deficit, seizure, confusion and an increase in intracranial pressure (ICP). Presentation with subarachnoid hemorrhage (SAH) is very rare that has been reported only in the case studies. In this paper, we describe a case of isolated trolard vein thrombosis that present with SAH

    Bilateral cavernous sinus thrombosis as first manifestation of primary Burkitt lymphoma of the thyroid gland

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    Cavernous sinus thrombosis (CST) is a rare condition that is usually associated with infections, pregnancy, vasculitis and some types of medication, such as the contraceptive pill and paraneoplastic. Primary Burkitt lymphoma (PBL) of the thyroid gland is very uncommon and the clinical description of such cases has been largely limited to case reports. In this paper, we present a case of CST as the first manifestation of PBL of the thyroid gland. To the best of our knowledge, our patient is the first case report of PBL of the thyroid gland that presents with bilateral CST

    Treatment of Levodopa-induced dyskinesia with Vitamin D: A Randomized, double-blind, placebo-controlled trial

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    Dyskinesia refers to any involuntary movement, such as chorea, dystonia, ballism that affect any part of the body. Levodopa-induced dyskinesia is a neurological disorder that afflicts many patients with Parkinson disease usually 5 years after the onset of levodopa therapy and can cause severe disability. The pathophysiology of this dyskinesia is complex and not fully understood. However, the association between vitamin D and Parkinson disease is interesting. The present study was conducted to evaluate the effect of vitamin D on levodopa induced dyskinesia in patients with Parkinson’s disease .In this Double blind clinical trial, 120 patients with PD divided into two groups randomly, vitamin D and placebo group. A dose of 1000 IU/d was selected, Demographic information is registered. In the first visit, three variables have been measured which were the duration, severity of dyskinesia and unified Parkinson’s disease rating scale (UPDRS). These variables were measured again after 3 months and the data was analyzed using SPSS 22. There are no differences between two groups after 3 months. This study revealed, vitamin D has no effects on improvement of levodopa induced dyskinesia

    A novel homozygous variation in the PANK2 gene in two Persian siblings with atypical pantothenate kinase associated neurodegeneration

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    Pantothenate Kinase-associated Neurodegeneration (PKAN) is an autosomal recessive disorder that is caused by variation in pantothenate kinase-2 gene (PANK2) gene on chromosome 20. The common presentation of this disease includes progressive dystonia, Parkinsonism, retinopathy, cognitive impairment, and spasticity. The typical magnetic resonance imaging finding is eye of the tiger sign in globus pallidus and not pathogenic and not found in all patients. In the present study, we describe two siblings who have a novel variation of the PANK2 gene. These patients with the same genotype, have different ages at the onset of disease and also the various severity of the disease. The description of these cases helps to understand this disease, its symptoms, pathogenesis, and its treatment

    Pantothenate kinase-associated neurodegeneration: Clinical aspects, diagnosis and treatments

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    Pantothenate Kinase-Associated Neurodegeneration (PKAN) is an autosomal recessive disorder characterized by a mutation in the PANK2 gene. The clinical presentation may range from only speech disorder to severe generalized dystonia, spasticity, Visual loss, dysphagia and dementia. The hallmark of this disease is eyes of the tiger sign in the medial aspect of bilateral globus pallidus on T2-weighted MRI that is a hyperintense lesion surrounded by hypointensity. Common treatments for PKAN disease include anticholinergics, botulinum toxin, Oral and Intrathecal baclofen, Iron chelation drugs and surgical procedures such as ablative pallidotomy or thalamotomy, Deep brain stimulation. There are many controversies about the pathogenesis and treatment of this disease, and in recent years interesting studies have been done on PKAN disease and other similar diseases. This review summarizes the clinical presentation, etiology, imaging modalities and treatment

    Presentation of isolated trolard vein thrombosis with subarachnoid hemorrhage: a case report and review of literature

    No full text
    Cortical vein thrombosis (CVT) is uncommon and life threatening condition. It is usually secondary to the propagation of the clot from dural sinus to cortical vein, but isolated thrombosis of this vein is very rare. Usual symptoms include headache, sensory and motor deficit, seizure, confusion and an increase in intracranial pressure (ICP). Presentation with subarachnoid hemorrhage (SAH) is very rare that has been reported only in the case studies. In this paper, we describe a case of isolated trolard vein thrombosis that present with SAH

    A pilot trial of deferiprone in pantothenate kinase-associated neurodegeneration patients

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    Pantothenate kinase-associated neurodegeneration (PKAN) is the most common form of neurodegeneration with brain iron accumulation, it is an autosomal recessive disease due to mutation in PANK 2 on chromosome 20, which causes the accumulation of iron in basal ganglia and production of free radicals that cause degeneration of the cells. Deferiprone is an iron chelator that was used in treatment of thalassemia patients, it can cross the blood-brain barrier and reverse the iron deposition in the brain. Five patients with genetically confirmed PKAN received 15 mg/kg deferiprone twice daily. All patients were examined at baseline, 12 and 18 months and magnetic resonance imaging (MRI) was done at the baseline and after 18 months. In our study qualitative evaluation of MRI showed that deferiprone was able to reduce the iron load in globus pallidus of all the patients and the results of clinical rating scales show that in four patients, there is an improvement in the first 12 months. The results of our paper show that deferiprone can prevent the progression of the disease
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