Bruna Ribeiro Torres

Clinical and Genetic Spectrum of ATP1A3 -Related Disorders

Victor Rebelo Procaci, Raphael Pinheiro Camurugy da Hora, Anna Maria Gomes, Thiago Yoshinaga Tonholo Silva et autres

Background and ObjectivesATP1A3-related disorders comprise an expanding group of ultra-rare neurologic conditions, classically including rapid-onset dystonia-parkinsonism (RDP), alternating hemiplegia of childhood (AHC), and cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) syndrome. However, accumulating reports suggest a broader …

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Neurological manifestation of Brazilian spotted fever in childhood

Bruna Fernanda Deicke Mendes, Marina Melo Moreira, Ana Luisa Lodi Jimenez, Lucas Braulino Reis Silva et autres

Rocky Mountain Spotted Fever is a rickettsial disease caused by the bacteria Rickettsia rickettsii. In Brazil, the disease is known as Brazilian spotted fever (BSF), being the most significant tick-borne disease in the country. Among the affected patients, only 5% of cases …

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ANÁLISE COMPARATIVA ENTRE ECOFUNCIONAL POR PEDIATRA E ECOCARDIOGRAFIA COMPREENSIVA POR CARDIOLOGISTA EM UNIDADE DETERAPIA INTENSIVA PEDIÁTRICA E NEONATAL: ECOFUNCIONAL EM TERAPIA INTENSIVA NEONATAL E PEDIÁTRICA

Ronaldo Afonso Torres, Tiago Ribeiro Torres, Bruna Ribeiro Torres, Márcio Antônio Ferreira Arantes Júnior et autres

Introdução: A ultrassonografia à beira do leito realizada por não especialista em imagem tem mostrado ser uma ferramenta útil na avaliação diagnóstica e realização de procedimentos invasivos. Diversas situações clínicas favorecem manifestações de instabilidade hemodinâmica, principalmente, nas unidades de terapia intensiva. Neste …

Mutations in the gene MEGF10 causing a recessive congenital multiminicore myopathy

Thaís de Almeida Fonseca Oliveira, Laura Maria Silva Thiersch, Renan Guimarães Santana, Nathália Jamille Moreira Nascimento David et autres

Case presentation: 5-year-old girl, born from a consanguineous couple, is referred to our service due to weakness and hypotonia. It was necessary hospitalization, after birth, due to respiratory insufficiency and a severe motor delay was already evident in the first months of …

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Use of carglumic acid in propionic acidemia: a case report

Renan Guimarães Santana, Ana Cristina Nascimento Dias Carneiro, Nathália Jamille Moreira Nascimento David, Thaís de Almeida Fonseca Oliveira et autres

Case presentation: The case is about a 1 year and 9 month old infant, child of consanguineous parents, born at term, Apgar 9/10, with respiratory distress, vomiting and hypoactivity starting at 48 hours of life, laboratory tests were performed that showed severe …

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Epilepsy related to GLUT1 mutation and treated with ketogenic diet: a case series

Laura Maria Silva Thiersch, Thaís de Almeida Fonseca Oliveira, Nathália Jamille Moreira Nascimento David, Renan Guimarães Santana et autres

Case presentation: We conducted a descriptive study of 4 cases with GLUT1 Deficiency (Glut1D) diagnosed in our service in the past 2 years. The diagnosis was established by: hypoglycorrhachia, clinical symptoms and SLC2A1 mutation. Our first patient, a 4-year-old boy, presented with …

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Profile of patients diagnosed with spinal cord atrophy treated with an antisense oligonucleotide in a reference service in Minas Gerais

Thaís de Almeida Fonseca Oliveira, Laura Maria Silva Thiersch, Renan Guimarães Santana, Nathália Jamille Moreira Nascimento David et autres

Background: Spinal muscular atrophy (SMA) is a disorder caused by homozygous loss of function of the SMN1 gene. This gene produces the survival motor neuron (SMN) protein, which is important in motor neuron homeostasis. The SMN2 gene has homology with SMN1, but …

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Neurodevelopmental disorder with involuntary movements associated with mutation in the GNAO1 gene

Ana Cristina Nascimento Dias Carneiro, Fernando Nascimento Dias Carneiro, Renan Guimarães Santana, Karina Soares Loutfi et autres

Case presentation: JCMO, 17 years old, male, second child of non-consanguineous parents. No prenatal and delivery complications. At six months, neurodevelopmental departure delay was observed, he was diagnosed with non-progressive chronic encephalopathy and started treatment with physical therapy and speech therapy. He …

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MEGF10 gene mutations causing a recessive congenital multiminicore myopathy (P9-9.010)

Larissa Maria Faria, André Vinicius Soares Barbosa, Bruna Ribeiro Torres, Carlos Eduardo de Menezes e Souza Filho et autres

Congenital myopathies are classified into five main types: core myopathies, nemaline myopathies, centronuclear myopathies, congenital fiber-type disproportion, and myosin storage myopathies. The most common forms are core myopathies. Despite their phenotypic diversity, patients demonstrate common symptoms including hypotonia, muscle weakness, dysmorphic features, …

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Neuro-COVID-19 With or Without the Multisystem Inflammatory Syndrome (MIS-C): A Single-Center Study

Aline Almeida Bentes, Walter Rebuite dos Santos, Natália Lima Pessoa, Thaís Alkifeles Costa et autres

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Niemann-Pick Disease Type C with Isolated Splenomegaly: A Case Report in a Child

Bruna Ribeiro Torres, Daniela Otoni Russo, Vinícius Andrade Gomes Vuolo, Tarcísio Silva Borborema et autres

Abstract Niemann-Pick disease type C is an innate error of lysosomal storage metabolism with an autosomal recessive inheritance pattern. The disease causes intracellular cholesterol accumulation and changes in sphingolipid metabolism. If cholesterol accumulates, the signs and symptoms of visceral involvement predominate. Neurological …

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Síndrome de Kinsbourne: série de casos pediátricos durante doze anos em Belo Horizonte, Brasil

Luiza Fernandes Fonseca Sandes, Joyce Carvalho Martins, Mariana Moreira Soares de Sá, Bruna Ribeiro Torres et autres