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Condition: Rare Diseases

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Total 294 results found since Jan 2013.

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

A child with atypically subtle clinical presentation of acute arterial ischaemic stroke in the middle cerebral artery.
Authors: Orgun LT, Derinkuyu BE, Havali C, Boyunaga O, Yenicesu I, Demir E, Gucuyener K Abstract Arterial ischaemic stroke in the paediatric population is considered a rare disease, and its diagnosis is often delayed due to the subtlety and variability of clinical symptoms, especially in younger patients. The clinical presentation and imaging features of ischaemic stroke in the paediatric population are variable depending on the underlying cause, affected artery and patient's age. Literally, acute occlusion of the middle cerebral artery shows significant clinical signs and symptoms, and riotous imaging findings due...
Source: Interventional Neuroradiology - July 25, 2018 Category: Radiology Tags: Interv Neuroradiol Source Type: research

Treatment of Depression With Duloxetine in Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes
We report a case in which an adult patient with MELAS and comorbid major depressive disorder demonstrated excellent response to the selective serotonin-norepinephrine reuptake inhibitor medication duloxetine.
Source: Clinical Neuropharmacology - May 1, 2018 Category: Neurology Tags: Case Reports Source Type: research

Rapid progressive visual decline and visual field defects in two patients with the Heidenhain variant of Creutzfeld-Jakob disease
Conclusions Loss of visual acuity and a decline in visual fields without corresponding MRI findings and marked changes in behaviour should lead to a diagnosis of HvCJD. Corresponding diagnostic tests should be performed for confirmation. The prognosis for survival is poor and should be immediately communicated to affected patients and their relatives.
Source: Journal of Clinical Neuroscience - February 21, 2018 Category: Neuroscience Source Type: research

The dynamic natural history of cerebral aneurysms from cardiac myxomas: A review of the natural history of myxomatous aneurysms.
We describe two contrasting patients with multiple cerebral aneurysms and a previous history of resected cardiac myxomas with no cardiac recurrence on follow-up echocardiography. Both patients presented with stroke- like symptoms; one with a left visual defect and the other with right hemiplegia. Magnetic resonance imaging of the brain of both patients showed the presence of multiple cerebral aneurysms that was later confirmed on conventional angiography. Both patients' aneurysms were managed conservatively. Serial angiograms were performed during their follow-up, which spanned several years. One patient's aneurysms remain...
Source: Interventional Neuroradiology - February 1, 2018 Category: Radiology Tags: Interv Neuroradiol Source Type: research

Stroke patients with familial hypercholesterolemia: need for detection and aggressive treatment
This article is protected by copyright. All rights reserved.
Source: European Journal of Neurology - November 28, 2017 Category: Neurology Authors: Haralampos Milionis Tags: Editorials Source Type: research

A Case of Recurrent Ischemic Stroke due to Intravascular Lymphomatosis, Undiagnosed by Random Skin Biopsy and Brain Imaging
We report a 68-year-old man who presented with transient ideomotor apraxia and mildly elevated soluble interleukin-2 receptor levels. He was initially diagnosed with aortogenic embolic stroke. He developed rapidly progressive neurological manifestations with enlargement of brain lesions on brain computed tomography and magnetic resonance imaging and died 3 months after symptom onset. The diagnosis of IVL could not be made by random skin biopsy, but was finally made at autopsy. For the early diagnosis, sufficient random skin biopsy or brain biopsy should be planned when suspected.Case Rep Neurol 2017;9:234 –240
Source: Case Reports in Neurology - October 25, 2017 Category: Neurology Source Type: research

Ischemic Stroke in a Young Patient Heralding a Left Ventricular Noncompaction Cardiomyopathy
We report the case of a young woman whose ischemic stroke led to the diagnosis of a rare embolic cardiomyopathy, left ventricular noncompaction cardiomyopathy, requiring a heart transplant.Case Rep Neurol 2017;9:204 –209
Source: Case Reports in Neurology - October 25, 2017 Category: Neurology Source Type: research

A Case of Recurrent Ischemic Stroke due to Intravascular Lymphomatosis, Undiagnosed by Random Skin Biopsy and Brain Imaging
We report a 68-year-old man who presented with transient ideomotor apraxia and mildly elevated soluble interleukin-2 receptor levels. He was initially diagnosed with aortogenic embolic stroke. He developed rapidly progressive neurological manifestations with enlargement of brain lesions on brain computed tomography and magnetic resonance imaging and died 3 months after symptom onset. The diagnosis of IVL could not be made by random skin biopsy, but was finally made at autopsy. For the early diagnosis, sufficient random skin biopsy or brain biopsy should be planned when suspected.Case Rep Neurol 2017;9:234 –240
Source: Case Reports in Neurology - October 16, 2017 Category: Neurology Source Type: research

Ischemic Stroke in a Young Patient Heralding a Left Ventricular Noncompaction Cardiomyopathy
We report the case of a young woman whose ischemic stroke led to the diagnosis of a rare embolic cardiomyopathy, left ventricular noncompaction cardiomyopathy, requiring a heart transplant.Case Rep Neurol 2017;9:204 –209
Source: Case Reports in Neurology - August 29, 2017 Category: Neurology 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

Dissection extending from extra- to intracranial arteries: A case report of progressive ischemic stroke
We reported a rare case of 33-year-old patient with progressive ischemic stroke due to dissection from an intimal tear in the right proximal internal carotid artery to distal middle cerebral artery. Diagnoses: 3D fat-saturated T1 VISTA imaging, owing to its comprehensive neck and head coverage, high spatial resolution, enables the reader to have several sections with good contrast covering the dissected arterial segment, even in the rare dissection involving extra- and intra-cranial arteries referred in this article. Interventions: Clopidogrel 75mg daily was prescribed, also the patient was given rehabilitation training....
Source: Medicine - May 1, 2017 Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research

Diagnostic Challenges due to Atypical presentations of CMT in Charcot Marie Tooth Disease type 4C associated with SH3TC2 mutations (P5.124)
Conclusions:Our results suggest that certain mutations in the SH3TC2 gene can present with clinical features atypical of classic presentations of CMT. These atypical features have been described previously, and our results confirm the diagnostic challenge associated with CMT 4C.Study Supported by:This work was supported by intramural funding from the National Institute of Neurological Disorders and Stroke (NINDS), NIH (AM). The work was supported by a grant from the National Institute of Neurological Disorders and Stroke (MES) and Office of Rare Diseases (MES, U54NS065712), Muscular Dystrophy Association (MES), Charcot-Mar...
Source: Neurology - April 17, 2017 Category: Neurology Authors: Jerath, N., Grunseich, C., Baloui, H., Nnamdi-Emeratom, C., Schindler, A., Chrast, R., Shy, M., Mankodi, A. Tags: Neuromuscular and Clinial Neurophysiology (EMG): Peripheral Neuropathy II 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

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