Atypical haemolytic uraemic syndrome (aHUS) is a rare and complex condition characterized by systemic thrombotic microangiopathy resulting from complement dysregulation. While primarily affecting renal microvasculature, aHUS can present with multi-organ involvement, posing significant diagnostic and therapeutic challenges. We report the case of a 22-year-old female with a history of aHUS who developed a catastrophic haemorrhagic stroke. Her clinical course underscores the severe and unpredictable nature of aHUS, illustrating the critical need for heightened awareness of its potential neurological manifestations. aHUS is typically triggered by a combination of genetic predisposition and environmental factors such as infections or medications. This case highlights the necessity for comprehensive evaluation and prompt intervention in patients with aHUS presenting with atypical symptoms. The complexity of aHUS necessitates a multidisciplinary approach to diagnosis and management to mitigate morbidity and mortality.
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http://dx.doi.org/10.7759/cureus.70159 | DOI Listing |
Nutrients
December 2024
Department of Cardiology, Peking University First Hospital, No. 8 Xishiku Street, Xicheng District, Beijing 100034, China.
The relationship between folate concentrations and stroke risk remains unestablished, and the mediation effect of homocysteine (Hcy) and interaction effect of methylenetetrahydrofolate reductase () gene polymorphism has yet to be investigated. This cohort study involved 4903 subjects derived from a Chinese community population. The association between folate and first stroke was examined in Cox proportional hazard regression models.
View Article and Find Full Text PDFInt J Mol Sci
January 2025
School of Pharmacy, Hunan University of Chinese Medicine, Changsha 410208, China.
Post-stroke spasticity (PSS), characterized by a velocity-dependent increase in muscle tone and exaggerated reflexes, affects a significant portion of stroke patients and presents a substantial obstacle to post-stroke rehabilitation. Effective management and treatment for PSS remains a significant clinical challenge in the interdisciplinary aspect depending on the understanding of its etiologies and pathophysiology. We systematically review the relevant literature and provide the main pathogenic hypotheses: alterations in the balance of excitatory and inhibitory inputs to the descending pathway or the spinal circuit, which are secondary to cortical and subcortical ischemic or hemorrhagic injury, lead to disinhibition of the stretch reflex and increased muscle tone.
View Article and Find Full Text PDFNat Rev Neurol
January 2025
J. Philip Kistler Stroke Research Center, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
Three monoclonal antibodies directed against specific forms of the amyloid-β (Aβ) peptide have been granted accelerated or traditional approval by the FDA as treatments for Alzheimer disease, representing the first step towards bringing disease-modifying treatments for this disease into clinical practice. Here, we review the detection, underlying pathophysiological mechanisms and clinical implications of amyloid-related imaging abnormalities (ARIA), the most impactful adverse effect of anti-Aβ immunotherapy. ARIA appears as regions of oedema or effusions (ARIA-E) in brain parenchyma or sulci or as haemorrhagic lesions (ARIA-H) in the form of cerebral microbleeds, convexity subarachnoid haemorrhage, cortical superficial siderosis or intracerebral haemorrhage.
View Article and Find Full Text PDFPediatr Pulmonol
January 2025
Department of Pulmonology, St. Antonius Hospital, Nieuwegein, the Netherlands.
Introduction: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular disease and screening to detect pulmonary arteriovenous malformations (PAVMs) is important to prevent complications. In adults, transthoracic contrast echocardiogram (TTCE) is used to screen PAVMs. In children, a conservative screening method seems to be sufficient to rule out major PAVMs and prevent them from PAVM-related complications.
View Article and Find Full Text PDFNat Rev Dis Primers
January 2025
European Reference Network for Rare Multisystemic Vascular Disease (VASCERN), HHT Rare Disease Working Group, Paris, France.
Hereditary haemorrhagic telangiectasia (HHT) is a vascular dysplasia inherited as an autosomal dominant trait and caused by loss-of-function pathogenic variants in genes encoding proteins of the BMP signalling pathway. Up to 90% of disease-causal variants are observed in ENG and ACVRL1, with SMAD4 and GDF2 less frequently responsible for HHT. In adults, the most frequent HHT manifestations relate to iron deficiency and anaemia owing to recurrent epistaxis (nosebleeds) or bleeding from gastrointestinal telangiectases.
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