Karina Soares Loutfi

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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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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Miller Fisher syndrome with idiopathic intracranial hypertension: a case report

Laura Maria Silva Thiersch, Leonardo Mendonça Monteiro de Castro, Thais de Almeida Fonseca Oliveira, N. David et autres

Case presentation: A 11-years-old girl, previously healthy, presented with a respiratory infection. Few weeks later, developed myalgia and proximal weakness. Her symptoms worsened promptly and, in a week, she lost the ability to walk. She was admitted to our hospital presenting confusion, …

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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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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 …

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Risk factors for neurological complications in children with Flavivirus infection

Aline Almeida Bentes, Roberta Maia de Castro Romanelli, Paula Eillanny Silva Marinho, Ana Paula Correa Crispim et autres

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Neurological manifestations due to dengue virus infection in children: clinical follow-up

Aline Almeida Bentes, Roberta Maia de Castro Romanelli, Ana Paula Correa Crispim, Paula Eillanny Silva Marinho et autres

The aim was to assess neurological complications in children with an invasive neurological disease by dengue virus (DENV) and the time to resolve symptoms after hospital discharge. A prospective study was conducted at a referral hospital for infectious diseases in Brazil between …

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Neurologic Manifestations of Noncongenital Zika Virus in Children

Aline Almeida Bentes, Ana Paula Correa Crispim, Paula Eillanny Silva Marinho, Eisler Cristiane Carvalho Viegas et autres

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Artisanal cannabidiol as adjunct treatment for refractory epilepsy: A Brazilian experience

Luiz Augusto Marcondes Fonseca, Karina Soares Loutfi, Clara Gontijo Camelo, Raquel fani et autres

Introduction: The treatment of refractory epilepsy in childhood is a challenge in medical practice. The authors describe the experience with cannabidiol (CBD) use in patients with refractory epilepsy. Objectives: To evaluate the response to CBD treatment in the control of epileptic seizures, …

2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: Case report

Camila Camelo, Sabrina Diniz, Karina Soares Loutfi, André Vinícius Soares Barbosa et autres

We describe a patient with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (MHBD), which is a rare metabolic disorder resulted from an inborn error of isoleucine metabolism. A 7-month-old male infant with previously normal developmental milestones started with symptoms of fever, torpor and persistent metabolic acidosis …

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