Abstract

Context: We present a patient diagnosed with Tuberous Sclerosis (TS) who developed West Syndrome (WS) early on. Early diagnosis of TS is important for genetic counseling and WS requires early intervention to avoid neurodevelopmental deficits. Case report: Y.S.L.C., female, 45 days old, presented cardiac rhabdomyoma and 9 hypomelanotic lesions, being diagnosed with TS. At 2 months old, she presented epileptic seizures of flexion spasms, which progressed in 1 week to neuropsychomotor development (NP) regression and hypsarrhythmia. She was diagnosed with WS and treated with vigabatrin. There was suppression of hypsarrhythmic pattern at 8 months old. Currently 8 years old, she has hypochromic stains, hemangiomyolipomas in the right kidney, bilateral renal cysts, sebaceous adenomas, facial angiofibromas, cortical tubers, subependymal nodules, Intellectual Disability and Focal Epilepsy. Conclusions: ET is an autosomal dominant disease caused by mutations in TSC1 and TSC2 genes leading neurodevelopmental changes and cellular hyperplasias. TE diagnosis is clinical, based on major (such as facial angiofibromas, nail fibroma and hypopigmented macules) and minor criteria and molecular tests in doubtful cases. TE is associated with epilepsy in 80-90% of cases (30 to 50% of infantile spasms). WS is an encephalopathy of infantile spasms, NP arrest/regression and hypsarrhythmia. Early diagnosis and use of anti-epileptic drugs are necessary to avoid cognitive impairment.

Highlights

  • Capsaicin is able to induce mast cell degranulation, an event probably related to the pathophysiology of a migraine attack

  • Objectives: The present review study aimed to address the mechanisms of action of capsaicin and other chemical inducers in mast cell degranulation and an interaction of nerves and events that happen in the dura mater with the activation of mast cells

  • The analyses showed significantly higher frequency of the genotype VV in those who had depression, compared with the allele A

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Summary

Introduction

Capsaicin is able to induce mast cell degranulation, an event probably related to the pathophysiology of a migraine attack. Neuroinfections are pathologies that affect the CNS, for example, we have Murcomycosis, a progressive infection caused by opportunistic fungi of the order Mucorales, with high frequency in Immunodepressed patients, Diabetes Mellitus (DM) is the main underlying pathology associated with the development of Rhinocerebral Murcomycosis, which represents 50% of the cases, with a mortality rate of 70% (Sidrim, 2012, p.168). The COVID-19 pandemic has been alarming the world since its first outbreak in December 2019 In this scenario, the presence of aggravating factors such as the elevation of the D-dimer and the reduction of the angiotensin-converting enzyme 2 (ACE2) during the clinical course of the disease, collaborated in the appearance of thromboembolic events derived from inflammatory processes and extensive intravascular coagulation, contributing to the emergence of diseases such as Hemorrhagic Stroke (ICH), leading the patient to have a worse clinical prognosis and a consecutive worsening of their health. Despite being classically associated with this etiology, the finding may be present in other diseases, especially infiltrative ones

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