A difficult airway approach in a merosin-deficient congenital muscular dystrophy patient: a case report.

Merosin-deficient muscular dystrophy is caused by an autosomal recessive mutation on laminin-..2 gene characterized by severe progressive muscle weakness associated with neuromuscular scoliosis and restrictive lung disease. In this case report, we describe an alternative airway approach performed in a child with anticipated difficult airway and merosin-deficient muscular dystrophy. Significant anesthetic implications may increase the perioperative risk, requiring accurate knowledge to anticipate an adequate management and provide patient-safety strategies.

Kawasaki-like Syndrome as an Emerging Complication of SARS-CoV-2 Infection in Young Adults.

BACKGROUND: Kawasaki-like syndrome occurring in children during the COVID-19 pandemic has been labelled multisystem inflammatory syndrome in children (MIS-C) by the CDC and paediatric inflammatory multisystem syndrome temporally associated with SARS-CoV-2 infection (PIMS-TS) by the ECDC. CASE REPORT: We report the case of an 18-year-old male patient presenting with a 72-hour history of abdominal pain, fever, erythematous skin rash, vomiting and diarrhoea. Examination showed he also had shock and he was first thought to have oedematous cholecystitis. SARS-CoV-2 infection was also diagnosed. He was admitted to the ICU, and echocardiography showed cardiac dysfunction, with a low ejection fraction and low cardiac index. High-sensitivity troponin serum levels were elevated. The patient received inotropic and vasopressor support. As he fulfilled several criteria for MIS-C/PIMS-TS, he was administered acetylsalicylic acid, corticosteroids and immunoglobulin, with a good clinical response. CONCLUSION: This case emphasizes how this severe presentation of COVID-19 can easily be misdiagnosed if the clinician is less aware of this syndrome in younger patients. LEARNING POINTS: SARS-CoV-2 infection is a diagnostic challenge in some patients with atypical clinical presentations, who may have MIS-C/PIMS-TS.Physicians should be aware of this condition when evaluating teenagers and young adults with COVID-19.

Clinical, genetic and neuropathological features of frontotemporal dementia: an update and guide.

INTRODUCTION: Frontotemporal Lobar Degeneration encompasses a group of heterogeneous disorders with shared behavioural and cognitive symptoms, as well as gross pathological features. The genetic underpinnings and histopathological aspects are quite diverse and form the basis of molecular classification, which is not easy to correlate with clinical findings and syndromes. Scientific research has brought to light an array of knowledge, often not easy to keep up with, especially in the last few years with regard to genetics and histopathology. MATERIAL AND METHODS: The authors have searched the published literature on this topic, chose relevant references, and extracted and systematized the data. RESULTS AND CONCLUSION: this manuscript presents an updated review of clinical, genetic and histopathological findings in Frontotemporal Lobar Degeneration, with special focus on behavioural variant Frontotemporal Dementia, the most common disorder. Current management is also reviewed, and genetic testing strategies are proposed by the authors for use in clinical practice. Public awareness on this group of disorders should be raised.

Introdução: A Degenerescência Lobar Frontotemporal engloba um conjunto de situações heterogéneas que partilham sintomas cognitivos e comportamentais, bem como características patológicas macroscópicas. As bases genéticas e características histopatológicas são bastante diversas e formam a base da classificação molecular das várias doenças, sendo difícil fazer uma correlação com os achados clínicos e síndromas. A investigação científica trouxe um conjunto vasto de conhecimentos, nem sempre fáceis de acompanhar,especialmente nos últimos anos em relação à genética e histopatologia.Material e Métodos: Os autores fizeram uma pesquisa de literatura neste tema, escolheram referências relevantes, extraíram e sistematizaram os dados.Resultados e Conclusão: o texto apresenta uma revisão atualizada dos aspetos clínicos, genéticos e histopatológicos da Degenerescência Lobar Frontotemporal, com ênfase especial na Demência Frontotemporal, a doença mais comum. O tratamento é também revisto e são propostas pelos autores estratégias relativamente à escolha dos testes genéticos na prática clínica. Deveriam serpromovidos a atenção e conhecimento públicos sobre este grupo de doenças.