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Condition: Rare Diseases

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Total 294 results found since Jan 2013.

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 - October 25, 2017 Category: Neurology 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

Stroke in Takayasu arteritis with concomitant tuberculosis: an unusual pediatric case report
In this report, we present the case of a C...
Source: BMC Pediatrics - January 20, 2022 Category: Pediatrics Authors: Yao Tian and Yu Chen Tags: Case report Source Type: research

Chapter 14 Cerebrovascular disease
Publication date: 2016 Source:Handbook of Clinical Neurology, Volume 138 Author(s): M.L.P. Portegies, P.J. Koudstaal, M.A. Ikram With 16.9 million people who suffered a first-ever stroke in 2010 worldwide, stroke is a very common vascular disease. Epidemiologic studies have played an essential role in assessing this burden and in detecting the risk factors for stroke. Primary prevention of these risk factors, primarily hypertension, smoking, diabetes, and atrial fibrillation, has reduced the incidence in high-income countries. However, stroke remains a major cause of death and disability, and therefore research should be ...
Source: Handbook of Clinical Neurology - September 13, 2016 Category: Neurology Source Type: research

Isolated middle cerebral artery dissection: a systematic review
Abstract Acute stroke can be missed in the emergency department, particularly in younger patients and in those with more vague symptoms such as headache or dizziness. Cervicocephalic dissections are one group of etiologies for acute stroke in the young. While cervicocephalic dissections are not uncommon in clinical practice, isolated middle cerebral artery dissection (MCAD) has been rarely reported as a cause for stroke. We sought to review the clinical implications and pathophysiology of an isolated MCAD. We searched the medical literature for isolated MCAD in clinical stroke patients using MEDLINE, HighWire, an...
Source: International Journal of Emergency Medicine - December 17, 2014 Category: Emergency Medicine Source Type: research

Epilepsy and related challenges in children with COL4A1 and COL4A2 mutations: A Gould syndrome patient registry
CONCLUSION: Here we describe the development and deployment of the first global registry for individuals and family members with Gould syndrome, caused by mutations in COL4A1 and COL4A2. It is important for pediatric neurologists to have access to resources to provide families upon diagnosis. Specifically, all families with Gould Syndrome must have access to infantile spasms awareness and stroke education materials. The Gould Syndrome Foundation is planning several improvements to this patient registry which will encourage collaboration and innovation for the benefit of people living with Gould syndrome.PMID:34735964 | DOI...
Source: Epilepsy and Behaviour - November 4, 2021 Category: Neurology Authors: Danielle Boyce Sheena McGee Lisa Shank Sheel Pathak Douglas Gould Source Type: research

One night with venus, a lifetime with mars
I present a case of neurosyphilis presenting as acute stroke in a 44-year-old male; I review the current literature, with a particular emphasis on diagnostics and the pitfalls of serological testing. Neurosyphilis is an imprecise term and subsumes meningitic, meningovascular, parenchymatous and gummatous syphilis. Of these, meningovascular syphilis is most commonly associated with large vessel arteritis and stroke, particularly of the middle cerebral artery. Although syphilis rates have increased since the latter part of the 20th century, neurosyphilis remains a rare disease and epidemiological estimates are marred by impr...
Source: Journal of Neurology, Neurosurgery and Psychiatry - September 9, 2014 Category: Neurosurgery Authors: Johnson, J. Tags: Abstracts Source Type: research

Cerebral arteriopathy associated with Arg179His ACTA2 mutation
We report a case of ACTA2 mutation in a 3-year-old girl presenting with acute ischemic stroke and provide high resolution imaging of the cerebral arteries demonstrating novel findings of multiple tiny aneurysms (particularly in the posterior circulation), as well as the more characteristic imaging phenotype of straightened and narrowed proximal intracranial vessels, dilated cervical vessels and occlusion of the M1 MCA segment without lenticulostriate collateral formation. This newly identified disease should be added to the differential diagnosis of pediatric stroke and cerebral vasculopathy. Neuroradiologists, interventio...
Source: Journal of NeuroInterventional Surgery - October 7, 2014 Category: Neurosurgery Authors: Amans, M. R., Stout, C., Fox, C., Narvid, J., Hetts, S. W., Cooke, D. L., Higashida, R. T., Dowd, C. F., McSwain, H., Halbach, V. V. Tags: Electronic pages Source Type: research

EPMA-World Congress 2015
Table of contents A1 Predictive and prognostic biomarker panel for targeted application of radioembolisation improving individual outcomes in hepatocellular carcinoma Jella-Andrea Abraham, Olga Golubnitschaja A2 Integrated market access approach amplifying value of “Rx-CDx” Ildar Akhmetov A3 Disaster response: an opportunity to improve global healthcare Russell J. Andrews, Leonidas Quintana A4 USA PPPM: proscriptive, profligate, profiteering medicine-good for 1 % wealthy, not for 99 % unhealthy Russell J. Andrews A5 The role of ...
Source: EPMA Journal - May 8, 2016 Category: Global & Universal Source Type: research

Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression
We report here the clinical and molecular data of 10 newly diagnosed patients from seven families and update the disease history of four additional patients reported in previous articles to delineate the clinical spectrum of ARCA2 phenotype and to provide a guide to the molecular diagnosis. First signs occurred before adulthood in all 14 patients. Cerebellar atrophy appeared in all instances. The progressivity and severity of ataxia varied greatly, but no patients had the typical inexorable ataxic course that characterizes other childhood-onset recessive ataxias. The ataxia was frequently associated with other neurological...
Source: Orphanet Journal of Rare Diseases - October 28, 2013 Category: Internal Medicine Authors: Cyril MignotEmmanuelle ApartisAlexandra DurrCharles Marques LourençoPerrine CharlesDavid DevosCaroline MoreauPascale de LonlayNathalie DrouotLydie BurglenNadine KempfElsa NourissonSandra Chantot-BastaraudAnne-Sophie LebreMarlène RioYves ChaixEric BiethE Source Type: research

After Moyamoya surgery, a back-to-normal birthday for Carolyn
Before Moyamoya surgery Carolyn Milks turns 8 on August 21. It’s a big celebration. Carolyn and her family aren’t just celebrating her birthday — they’re celebrating Carolyn’s return to normal. For most of the summer, things like swimming, riding her bicycle and horsing around with her sisters and cousins had been out of the question for Carolyn. But on August 11, Dr. Ed Smith, co-director of the Boston Children’s Hospital Cerebrovascular Surgery and Interventions Center, gave Carolyn the green light. She could go back to being a kid. “This is what kids really want. They just want to ...
Source: Thrive, Children's Hospital Boston - August 18, 2016 Category: Pediatrics Authors: Joyce Choi Tags: Our Patients’ Stories Boston Children's at Waltham Cerebrovascular Surgery and Interventions Center Dr. Ed Smith moyamoya Source Type: news

First a birthmark, then a rare disease diagnosis
Brielle plays near her home in Rhode Island. Two-year-old Brielle Coutu loves listening to music, dancing and eating enough cheese that her mother, Heather, often wonders aloud, “Are you a mouse?” Brielle loves to play outside and is usually a chatty, happy-go-lucky little girl. But, sometimes, she can be overwhelmed by the excitement of gathering with family and friends. “We think she has some sensory sensitivities related to her Sturge-Weber syndrome,” says Heather. Brielle was born with what’s known as a port-wine birthmark on her face. It is aptly named for its dark reddish color. Port-wine birthmarks can ...
Source: Thrive, Children's Hospital Boston - March 1, 2017 Category: Pediatrics Authors: Kat J. McAlpine Tags: Diseases & Conditions Our Patients’ Stories Dr. Anna Pinto epilepsy neurology rare disease seizures Sturge-Weber syndrome Sturge-Weber Syndrome Clinic Source Type: news