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Condition: Rare Diseases

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Total 294 results found since Jan 2013.

Spinal epidural hematoma as a stroke mimic
Spinal epidural hematoma is a rare disease with an annual incidence of 1 per 1,000,000 individuals;1 however, it is a critical stroke mimic.2 As patients with spinal epidural hematoma typically present with acute hemiparesis,3,4 such a presentation is not expected to be detected by a computed tomography (CT) scan of the brain, which is the most common neuroimaging choice in patients with an activated stroke code. Indeed, there are several case reports in which patients with spinal epidural hematoma were misdiagnosed with ischemic stroke and treated with anti-thrombotic therapy, including intravenous thrombolysis,5 –10 oc...
Source: Journal of Stroke and Cerebrovascular Diseases - August 15, 2020 Category: Neurology Authors: Yuichiro Inatomi, Makoto Nakajima, Toshiro Yonehara Source Type: research

Characteristics of Pediatric Stroke and Association of Delayed Diagnosis with Mortality in a Mexican Tertiary Care Hospital
Conclusions Pediatric stroke is a rare disease; however, its incidence shows a continuous increase. More awareness toward pediatric stroke is needed. [...] Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents  |  Abstract  |  Full text
Source: Neuropediatrics - July 14, 2021 Category: Neurology Authors: Garza-Alatorre, Gerardo Carrion-Garcia, Ana Luisa Falcon-Delgado, Alfredo Garza-Davila, Elda Carolina Martinez-Ponce de Leon, Angel R Botello-Hernandez, Edgar Tags: Short Communication Source Type: research

A Systematic Literature Review of Patients with Carotid Web and Acute Ischemic Stroke. (P5.286)
Conclusions:CW is a rare disease leading to ischemic stroke in younger patients without typical CV risk factors. CW patients in our SLR were at extremely high risk for recurrent stroke (47.8%). Aggressive secondary stroke prevention measures are indicated in this patient population, however, the optimal treatment strategies remain unclear. Carotid revascularization may be the definitive treatment for certain patients with CW, but further studies are needed as incomplete reporting and potential publication bias limit our findings.Disclosure: Dr. Dhruv has nothing to disclose. Dr. Kim has nothing to disclose. Dr. Koffel has ...
Source: Neurology - April 17, 2017 Category: Neurology Authors: Dhruv, P., Kim, J., Koffel, J., Anderson, D., Streib, C. Tags: SubAcute Interventional Therapies in Cerebrovascular Disease Source Type: research

Effects of hybrid assistive neuromuscular dynamic stimulation therapy for hemiparesis after pediatric stroke: a feasibility trial.
Conclusion: This preliminary study demonstrated the feasibility and effectiveness of HANDS therapy in patients with pediatric stroke. Implications for rehabilitation Pediatric stroke is a very rare disease and patients are forced to live with sequelae in most of the rest of their lives. Hybrid assistive neuromuscular dynamic stimulation therapy is effective for upper limb paralysis of adult stroke. Hybrid assistive neuromuscular dynamic stimulation therapy was adaptable even for children, and improvement of upper limb paralysis was observed even in a relatively short period of intervention. PMID: 31335219 [PubMed - as...
Source: Disability and Rehabilitation - July 22, 2019 Category: Rehabilitation Authors: Oshima O, Kawakami M, Okuyama K, Suda M, Oka A, Liu M Tags: Disabil Rehabil Source Type: research

Paediatric arterial ischemic stroke: acute management, recent advances and remaining issues
Stroke is a rare disease in childhood with an estimated incidence of 1-6/100.000. It has an increasingly recognised impact on child mortality along with its outcomes and effects on quality of life of patients and their families. Clinical presentation and risk factors of paediatric stroke are different to those of adults therefore it can be considered as an indipendent nosological entity. The relative rarity, the age-related peculiarities and the variety of manifested symptoms makes the diagnosis of paediatric stroke extremely difficult and often delayed. History and clinical examination should investigate underlying diseas...
Source: Italian Journal of Pediatrics - December 2, 2015 Category: Pediatrics Authors: Margherita RosaSilvana De LuciaVictoria RinaldiJulie Le GalMarie DesmarestClaudio VeropalumboSilvia RomanelloLuigi Titomanlio Source Type: research

Incidence of myocardial infarction and stroke in acromegaly patients: results from the German Acromegaly Registry
ConclusionsFor acromegaly patients being treated at specialized centres, the incidence of MIs and strokes does not seem to differ from the general population. Certainty regarding such statements requires large, prospective studies however.
Source: Pituitary - August 14, 2017 Category: Endocrinology Source Type: research

Pediatric Ischemic Stroke: Acute Management and Areas of Research
Stroke is defined as the rapid loss of brain function due to a decreased cerebral blood flow (CBF). It is a relatively rare disease in childhood, with an estimated incidence of 2.6-6.4/100 000/year and serious long-term morbidity. Ischemic stroke in children typically refers to arterial ischemic stroke (AIS). It is more frequent in the perinatal period (between 28 weeks of gestation to 28 days after birth) than in childhood (; available at www.jpeds.com). The clinical presentation of AIS differs depending on age, involved artery, and cause. In newborns, seizures, apneas, hypotonia, episodes of duskiness, irritability, or ...
Source: The Journal of Pediatrics - November 15, 2012 Category: Pediatrics Authors: Luigi Titomanlio, Anna Zanin, Philippe Sachs, Jinane Khaled, Monique Elmaleh, Raphael Blanc, Michel Piotin Tags: Medical Progress Source Type: research

Antithrombotic medications and childhood stroke.
Abstract Each year, 500 to 1000 children experience a stroke in France. Long-term follow-up demonstrates persistent neurologic deficit in most of them. Despite the lack of studies with high level of evidence, paediatric stroke guidelines are regularly updated based on observational data, analogy with recommendation for adults, and expert opinion. It is reasonable to initiate anticoagulation during the acute phase of cerebral sinovenous thrombosis in children; the duration of anticoagulation needs to be individually tailored. It is not yet possible to draw any conclusions regarding neonates. Intravenous or intra-ar...
Source: Presse Medicale - July 19, 2013 Category: Journals (General) Authors: Chabrier S, Kossorotof M, Darteyre S Tags: Presse Med Source Type: research

Unusual Intersection: Elucidating the Role of Erdheim Chester Disease in Stroke (P4.366)
Conclusion:A unifying diagnosis of ECD was identified for this gentleman presenting with a stroke in the setting of critical ICA stenosis. Pathology from his CEA suggests that while ECD involves multisystem inflammation, it did not appear to play a direct role in his stroke.Disclosure: Dr. Sheikhi has nothing to disclose.
Source: Neurology - April 3, 2016 Category: Neurology Authors: Sheikhi, L. Tags: Cerebrovascular Case Reports Source Type: research

Symptom patterns in childhood arterial ischemic stroke: Analysis of a population-based study in Germany
Conclusions Any new focal neurological deficit in isolation, or associated with seizures or further non-specific symptoms should alert to childhood stroke. [...] © Georg Thieme Verlag KG Stuttgart · New YorkArticle in Thieme eJournals: Table of contents  |  Abstract  |  Full text
Source: Klinische Padiatrie - October 10, 2018 Category: Pediatrics Authors: Gerstl, Lucia Weinberger, Raphael von Kries, R üdiger Heinen, Florian Sebastian Schroeder, Andreas Veronika Bonfert, Michaela Borggr äfe, Ingo Tacke, Moritz Vill, Katharina N. Landgraf, Mirjam Kurnik, Karin Olivieri, Martin Tags: Original Article Source Type: research

Superhero Joey: Five-year-old fights moyamoya disease
It’s been said that not all heroes wear capes — but Joey Gallagher owns several. The five-year-old has already amassed a collection of superhero gear, from a Superman Halloween costume to a t-shirt emblazoned with the Batman logo. Yet even the most diehard comic book fan would likely admit that feats like flying, leaping tall buildings and fighting bad guys don’t hold a candle to the challenges this little boy has already surmounted. Just last June, Joey was out of town with his family when he had what his parents, Leila and Scott, feared was a seizure. Clinicians in the emergency department dismissed the event as he...
Source: Thrive, Children's Hospital Boston - April 4, 2017 Category: Pediatrics Authors: Jessica Cerretani Tags: Diseases & Conditions Our Patients’ Stories childhood stroke Dr. Edward Smith Dr. Michael Scott moyamoya Moyamoya Disease Program Source Type: news

Spontaneous spinal epidural hematoma treated with tissue plasminogen activator mimicking ischemic stroke
ConclusionHemiplegic spontaneous cervical EDH occurs very rarely. It is often misdiagnosed as ischemic stroke and is likely to be administered with thrombolytic agents, making the patient's symptoms worse. Early diagnosis and rapid management of cervical EDH increase the likelihood of complete recovery of the patient's symptoms. Therefore, if there are unilateral weakness and neck pain without cranial nerve dysfunction and there is no evidence of stroke in the brain imaging, spinal EDH should be considered.
Source: Interdisciplinary Neurosurgery - August 20, 2019 Category: Neurosurgery Source Type: research

Cryptogenic stroke and small fiber neuropathy of unknown etiology in patients with alpha-galactosidase A -10T genotype
Background: Fabry disease (FD) is a multisystemic disorder with typical neurological manifestations such as stroke and small fiber neuropathy (SFN), caused by mutations of the alpha-galactosidase A (GLA) gene. We analyzed 15 patients carrying the GLA haplotype -10C>T [rs2071225], IVS2-81_-77delCAGCC [rs5903184], IVS4-16A>G [rs2071397], and IVS6-22C>T [rs2071228] for potential neurological manifestations.Methods and resultsPatients were retrospectively analyzed for stroke, transient ischemic attack (TIA), white matter lesions (WML) and SFN with neuropathic pain. Functional impact of the haplotype was determined by molecular...
Source: Orphanet Journal of Rare Diseases - November 26, 2014 Category: Internal Medicine Authors: Michael SchelleckesMalte LendersKatrin GuskeBoris SchmitzChristian TanislavSonja StänderDieter MetzeIstvan KatonaJoachim WeisStefan-Martin BrandThomas DuningEva Brand Source Type: research

Intracranial Fibromuscular Dysplasia in a Middle-Aged Woman with Recurrent Ischemic Stroke (P4.388)
Conclusions: FMD is a rare disease and has very rarely been described in the intracranial arteries. This case illustrates the natural history and progression of FMD in this patient and elucidates the limited treatment options for preventing disease progression and secondary complications. FMD most predominantly affects younger to middle-aged females and if the disease process goes unrecognized it can have devastating consequences. It is important to continue research endeavors into the genetic and biologic determinants of FMD in order to develop better prevention and therapeutic strategies for this condition.Disclosure: Dr...
Source: Neurology - April 3, 2016 Category: Neurology Authors: Beaton, N., Malik, A., Maque-Acosta, Y., Koch, S. Tags: Non-Atherosclerotic Arteriopathies Source Type: research