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Condition: Rare Diseases

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Total 294 results found since Jan 2013.

Spontaneous cervical epidural haematoma mimicking stroke: a  case report and literature review
Folia Neuropathol. 2022;60(2):261-265. doi: 10.5114/fn.2022.116940.ABSTRACTSpontaneous spinal epidural haematoma (SSEH) is a rare disease that requires emergency decompression or haematoma evacuation to prevent permanent neurological deficits. Hemiparesis is an extremely rare presentation of SSEH, commonly misdiagnosed as stroke. With the help of case studies and references, this paper comprehensively discusses the effective methods to distinguish SSEH from stroke and provides theoretical support and ideas for rapid and accurate identification of SSEH. Herein, we report on the case of a 51-year-old man with SSEH who presen...
Source: Folia Neuropathologica - August 11, 2022 Category: Neurology Authors: Tian Lv Yaya Bao Jingjing Lou Dadong Gu Source Type: research

Cerebral Infarction in a Case of Parry-Romberg Syndrome
Our objective is to report a rare coexistence of Parry-Romberg disease and ischemic stroke. Here, we report the case of a 34-year-old woman with Parry-Romberg syndrome who developed cerebral infarction. This patient developed sudden left-sided weakness and was admitted to our hospital. Magnetic resonance imaging revealed acute cerebral infarction in the posterior limb of the right internal capsule. The patient had been diagnosed with Parry-Romberg syndrome at the age of 12, and she had a history of migraine without aura. Transesophageal echocardiography revealed a patent foramen ovale, but no atrial septal aneurysm or deep...
Source: Journal of Stroke and Cerebrovascular Diseases - May 9, 2013 Category: Neurology Authors: Yuji Tomizawa, Ryota Tanaka, Kiyoshi Sekiguchi, Yutaka Oji, Yasutaka Tanaka, Kazuo Yamashiro, Nobutaka Hattori Tags: Case Reports Source Type: research

PDE3A variant associated with hypertension and brachydactyly syndrome in a patient with ischemic stroke caused by spontaneous intracranial artery dissection: A review of the clinical and molecular genetic features.
Abstract Hypertension and brachydactyly syndrome (HTNB; MIM 112410) is a rare, recently described, autosomal dominant syndromic disease characterized by the triad of brachydactyly type E (BDE), short stature, and hypertension. HTNB is caused by a heterozygous mutation in the PDE3A (MIM 123805) gene on chromosome 12p12; this gene encodes a member of the cGMP-inhibited cyclic nucleotide phosphodiesterase family. PED3A plays a role in many signal transduction pathways, including those involved in vascular smooth muscle proliferation and contraction, cardiac contractility, platelet aggregation, and hormone secretion. ...
Source: European Journal of Medical Genetics - October 3, 2019 Category: Genetics & Stem Cells Authors: Lee CG, Kang K, Yoon RG, Seo JY, Park JM Tags: Eur J Med Genet 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