André Vinícius Soares Barbosa

Unmet Needs in the Care of Patients with Duchenne Muscular Dystrophy in Brazil

Alexandra Prufer de Queiroz Campos Araújo, André Vinícius Soares Barbosa, Michele Michelin Becker, Andressa Araújo Braga et autres

Duchenne muscular dystrophy is a rare, progressive neuromuscular disorder primarily affecting boys, and it follows a predictable course. Early intervention is essential for effective management, but disparities in the care of patients with rare diseases hinder access to optimal treatment.To identify unmet …

br (code pays fourni par la source)

Síndrome de Rasmussen em paciente pediátrico: relato de caso

André Vinícius Soares Barbosa, Arthur Andrade Resende, CLARISSA MILBRATZ DE CASTRO, Luiza Sousa Vilano et autres

Introdução: A Síndrome de Rasmussen (SR) é uma encefalite rara, crônica e progressiva, presumivelmente de origem autoimune, que afeta predominantemente crianças. Caracteriza-se por crises epilépticas focais farmacorresistentes, deterioração neurológica progressiva e atrofia hemisférica cerebral. Objetivo: Descrever a evolução clínica, os desafios terapêuticos …

Rasmussen syndrome in a pediatric patient: case report

André Vinícius Soares Barbosa, Arthur Andrade Resende, CLARISSA MILBRATZ DE CASTRO, Luiza Sousa Vilano et autres

Introduction: Rasmussen’s Syndrome (RS) is a rare, chronic, and progressive encephalitis, presumably of autoimmune origin, that predominantly affects children. It is characterized by drug-resistant focal seizures, progressive neurological deterioration, and cerebral hemispheric atrophy. Objective: To describe the clinical course, therapeutic challenges, and …

Iphosphamide-induced encephalopathy treated with Methylene Blue: a pediatric case report

Luiza Fernandes Fonseca Sandes, Paulyane Thalita Miranda Gomes, Thamiris Nader Mota, Patricia Semino Tavares et autres

Case presentation: This is a 12-year-old female patient hospitalized for chemotherapy due to Acute Lymphoblastic Leukemia. She was on the fifth day of treatment, receiving iphosphamide, dexamethasone and daunorubicin. Suddenly, she developed hyporesponsiveness and focal seizure, which improved after Midazolam. A few …

br (code pays fourni par la source)

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 …

br (code pays fourni par la source)

Patients with mitochondrial diseases followed up at an outpatient clinic in Belo Horizonte: a case series

Renan Guimarães Santana, Fernando Nascimento Dias Carneiro, Ana Cristina Nascimento Dias Carneiro, André Vinícius Soares Barbosa et autres

Case presentation: In a referral hospital for rare diseases in Belo Horizonte, Minas Gerais, we followed up five patients with a molecular diagnosis of mitochondriopathies. A.E.S.V, 3 years and 11 months, diagnosed with Leigh Syndrome due to a homozygous point mutation in …

br (code pays fourni par la source)

Challenging diagnosis of myelin oligodendrocyte glycoprotein (MOG) antibody: positive optic neuritis

Nathália Jamille Moreira Nascimento David, Bruna Campos Cardoso Vilela, Sanny Kemelly Miquelante Yoshida, Laura Maria Silva Thiersh et autres

Case presentation: Ten year-old female presented whit visual loss and ocular pain with extraocular movements in the left eye and papilledema. After 15 days, it progressed to the right eye. No other neurological symptoms were observed. The case was investigated with optical …

br (code pays fourni par la source)

Atypical presentation of opsoclonus-myoclonus-ataxia syndrome in a newborn: a case report

Luiza Fernandes Fonseca Sandes, André Vinícius Soares Barbosa

Case presentation: This is a newborn patient, male. Vaginal delivery with no complications, preterm birth. The initial physical examination of the newborn (NB) identified a hard and painful mass in the left flank. The patient was transferred to Neonatal Intensive Care Unit …

br (code pays fourni par la source)

A 9-Year-old Boy With Fever, Eosinophilia, and Neurologic Symptoms

Lílian Martins Oliveira Diniz, Jesiana Ferreira Pedrosa, Pedro Henrique Pimenta, Luynne Lana Monteiro et autres

A 9-year-old male patient from Belo Horizonte, Brazil, presented to the Emergency Department with diarrhea, abdominal pain, coughing and vomiting for 7 days. The patient reported having swum in an artesian well 30 days before and developed a maculopapular rash on the …

br (code pays fourni par la source)

Obstructive Hydrocephalus Presenting with Bobble-Head Doll Syndrome

Igor de Assis Franco, Thiago Cardoso Vale, Leonardo Furtado Freitas, André Vinícius Soares Barbosa et autres

A previously healthy macrocephalic 3-year-old boy presented with a 3-month-history of progressive up-and-down head movements that were increased with distraction, decreased with concentration, and voluntarily suppressed ([ Video 1 ], Segment 1). Brain MRI showed suprasellar cystic lesion causing obstructive hydrocephalus ([ …

br (code pays fourni par la source)

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 …

br (code pays fourni par la source)

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