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1.
Cureus ; 15(11): e49490, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-38152814

RESUMO

Ecchordosis physaliphora (EP) is a rare benign lesion arising from embryonic notochordal remnants, typically located in the retroclival region. This case report presents a 46-year-old male patient experiencing intermittent headaches and occipital pain. Imaging revealed a well-defined, smoothly corticated bony lesion on the left side of the clivus, accompanied by a characteristic bony stalk devoid of any aggressive features. A review of the patient's medical records indicated stable imaging findings of the lesion over six years. Clinicians and radiologists should be familiar with EP as a benign entity and differentiate it from aggressive pathologies.

2.
Medicine (Baltimore) ; 102(47): e35906, 2023 Nov 24.
Artigo em Inglês | MEDLINE | ID: mdl-38013323

RESUMO

Vertebral artery aneurysm is a rare condition with diverse clinical manifestations in pediatric patients. We present the case of a 12-year-old male who presented with diplopia, vomiting, ataxia, and severe headache. Diagnostic evaluation revealed an extracranial vertebral artery dissection with an associated aneurysm at the C3-C4 level. Despite the absence of recurrent ischemic strokes, the aneurysm posed challenges in differentiating the symptoms from other inflammatory demyelinating disorders, particularly internuclear ophthalmoplegia. Diagnosis relied on a thorough history, physical examination, and imaging studies. Magnetic resonance imaging with magnetic resonance angiography confirmed the diagnosis and played a crucial role in assessing the size, location, and extent of the aneurysm. Additionally, the imaging findings helped guide treatment decisions and determine the need for anticoagulation therapy. Regular follow-up imaging was initiated to monitor for late complications and evaluate the effectiveness of the management approach. This case highlights the atypical presentation of vertebral artery aneurysm in a pediatric patient, underscoring the importance of clinical suspicion and the role of advanced imaging techniques in facilitating accurate diagnosis and guiding appropriate management. Prompt diagnosis and optimal utilization of imaging modalities are essential in preventing severe morbidity and mortality. Further research is warranted to enhance our understanding of this condition and refine imaging and management protocols in pediatric population.


Assuntos
Dissecação da Artéria Vertebral , Masculino , Humanos , Criança , Dissecação da Artéria Vertebral/diagnóstico , Dissecação da Artéria Vertebral/diagnóstico por imagem , Artéria Vertebral/diagnóstico por imagem , Artéria Vertebral/patologia , Imageamento por Ressonância Magnética , Angiografia por Ressonância Magnética
3.
Cureus ; 15(12): e51216, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-38283439

RESUMO

Posterior reversible encephalopathy syndrome (PRES) is a neurological disorder characterized by the sudden onset of seizures, headaches, and visual disturbances. Its exact cause is unknown, but several triggers and associated conditions are identified, including high blood pressure, kidney dysfunction, and various medications. Magnetic resonance imaging (MRI) plays a crucial role in diagnosis due to its high sensitivity and specificity for detecting characteristic features. Pediatric PRES exhibit age-dependent differences in triggers, radiological findings, and clinical course. The lesions typically involve the posterior cortical and subcortical white matter, but atypical locations and features are also observed. While generally reversible with appropriate treatment, PRES carries a risk of permanent neurological damage. Despite increasing cases, the current literature on pediatric PRES remains limited. This review highlights the need for further research to understand the mechanisms, delineate distinct clinical and radiological features, and develop precise diagnostic and management strategies for pediatric patients.

4.
Medicine (Baltimore) ; 97(40): e12591, 2018 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-30290626

RESUMO

RATIONALE: Polymerase subunit gamma (POLG) is a gene that codes for the catalytic subunit of the mitochondrial DNA polymerase, which is involved in the replication of mitochondrial DNA. Mutations in these genes are associated with a range of clinical syndromes characterized by secondary mtDNA defect including mtDNA mutation and mtDNA depletion which may culminate in complete failure of energy production (respiratory changes complex 1 defect) as in this case. PATIENT CONCERNS: We herein report a full term Saudi female neonate born to consanguineous parents, who was noticed immediately after birth to have severe hypotonia, poor respiratory effort, and dysmorphic features. She had 3 siblings who died with same clinical scenario in neonatal period. DIAGNOSES: Molecular genetic testing revealed a novel compound heterozygous mutation of POLG gene c.680G>A (p.Arg227Gin) and c.3098C>T (p.Ala1033Val). INTERVENTIONS: The patient remained in neonatal intensive care unit with multidisciplinary team management and was ventilator dependent until she passed away. OUTCOMES: The detected mutation had led to complete failure of energy production (respiratory changes complex 1 defect) until she died at the age of 5 months. LESSONS: Mitochondrial respiratory chain defect should be considered in patients with severe neonatal hypotonia,encephalopathy, and respiratory failure especially in highly consanguineous population.


Assuntos
DNA Polimerase gama/genética , Doenças Mitocondriais/genética , Consanguinidade , DNA Mitocondrial/genética , Feminino , Humanos , Recém-Nascido , Mutação
5.
Metab Brain Dis ; 33(4): 1121-1130, 2018 08.
Artigo em Inglês | MEDLINE | ID: mdl-29557530

RESUMO

Due to the high ability of cadmium to cross the blood-brain barrier, cadmium (Cd) causes severe neurological damages. Hence, the purpose of this study was to investigate the possible protective effect of Mangifera indica leaf extract (MLE) against Cd-induced neurotoxicity. Rats were divided into eight groups. Group 1 served as vehicle control group, groups 2, 3 and 4 received MLE (100, 200, 300 mg /kg b.wt, respectively). Group 5 was treated with CdCl2 (5 mg/kg b.wt). Groups 6, 7 and 8 were co-treated with MLE and CdCl2 using the same doses. All treatments were orally administered for 28 days. Cortical oxidative stress biomarkers [Malondialdehyde (MDA), nitric oxide (NO), glutathione content (GSH), oxidized form of glutathione (GSSG), 8-hydroxy-2-deoxyguanosine (8-OHdG), superoxide dismutase (SOD), catalase (CAT) and glutathione peroxidase (GPx)], inflammatory cytokines [tumor necrosis factor (TNF-α) and interlukin-1ß (IL-1ß)], biogenic amines [norepinephrine (NE), dopamine (DA) and serotonin (5-HT)], some biogenic metabolites [3,4-dihydroxyphenylacetic acid (DOPAC), homovanillic acid (HVA) and 5-hydroxyindoleacetic acid (5-HIAA)], acetylcholine esterase activity (AChE) and purinergic compound [adenosine triphosphate (ATP)] were determined in frontal cortex of rats. Results indicated that Cd increased levels of the oxidative biomarkers (MDA, NO, GSSG and 8-OHdG) and the inflammatory mediators (TNF-α and IL-1ß), while lowered GSH, SOD, CAT, GPx and ATP levels. Also, Cd significantly decreased the AChE activity and the tested biogenic amines while elevated the tested metabolites in the frontal cortex. Levels of all disrupted cortical parameters were alleviated by MLE co-administration. The MLE induced apparent protective effect on Cd-induced neurotoxicity in concern with its medium and higher doses which may be due to its antioxidant and anti-inflammatory activities.


Assuntos
Lesões Encefálicas/tratamento farmacológico , Encéfalo/efeitos dos fármacos , Cádmio/toxicidade , Fármacos Neuroprotetores/uso terapêutico , Estresse Oxidativo/efeitos dos fármacos , Extratos Vegetais/uso terapêutico , Acetilcolinesterase/metabolismo , Animais , Encéfalo/metabolismo , Lesões Encefálicas/metabolismo , Glutationa/metabolismo , Masculino , Malondialdeído/metabolismo , Mangifera , Fármacos Neuroprotetores/farmacologia , Óxido Nítrico/metabolismo , Extratos Vegetais/farmacologia , Ratos , Ratos Wistar , Superóxido Dismutase/metabolismo
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