Porfiria aguda intermitente com complicações decorrentes do diagnóstico tardio em paciente pediátrico / Acute intermittent porphyria with complications arising from late diagnosis in a pediatric patient

A porfiria é uma doença rara, decorrente da deficiência enzimática associada à biossíntese do grupamento heme. O objetivo deste relato é descrever um caso de crise porfirêmica aguda intermitente em um paciente de 15 anos, que evoluiu rapidamente com tetraplegia e insuficiência renal crônica terminal, além de distúrbios neuropsiquiátricos. Representa uma entidade de difícil diagnóstico devido à inespecificidade dos achados clínicos. À admissão a creatinina era de 6,44 mg/dL e a uréia de 103 mg/dL. Déficit neurológico importante e insuficiência renal crônica são complicações raras, decorrentes do diagnóstico e tratamento tardio. É fundamental que o tratamento seja iniciado imediatamente após o diagnóstico, devido não somente à morbidade a curto-médio prazo, mas também aos possíveis efeitos deletérios permanentes. (AU)

Porphyria is a rare disease, consequence of enzymatic deficiencies associated with heme group biosynthesis. The aim of this report is to describe a case of acute intermittent porphyria crisis in a 15-year-old patient who progressed rapidly with tetraplegia and chronic terminal renal failure, as well as severe neuropsychiatric disorders. It represents an entity of difficult diagnosis due to the lack of specificity of the clinical findings. At admission, creatinine was 6.44 mg / dL and urea was 103 mg / dL. Significant neurological deficit and chronic renal failure are rare complications, arising from late diagnosis and treatment. A greater degree of clinical suspicion is fundamental that treatment be started immediately after diagnosis, due not only to short-term morbidity but also to possible deleterious permanent effects (AU)

Intra-arterial thrombectomy in the management of acute ischemic stroke: evidentiary analysis over the past two years

Stroke is one of the main causes of death and disability worldwide, and the ischemic modality is responsible for the majority of these events. Despite its high occurrence and potentially unfavorable prognosis, the management options were scarce and barely effective until recent times, when a relatively new endovascular intervention with demonstrated superior efficacy as compared with that of classic management was reported in the medical literature. The theoretical basis of this study was conducted through research in virtual databases Public MEDLINE (PubMed) and Scientific Electronic Library Online (SciELO) using associations among the keywords "acute ischemic stroke", "ischemic stroke", "thrombectomy", "endovascular," and "intra-arterial thrombectomy". Clinical trials, meta-analysis, and pertinent literature reviews published in the last two years were reviewed and 14 articles were selected for complete and critical evaluations. The results of the randomized clinical trials, consequences of implantation of the intra-arterial thrombectomy as routine management for eligible groups, cost-effectiveness, and the most related complications and outcomes associated with the procedure are critically explored throughout this study (AU)