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Your search keyword '"Marcelo de Melo Aragão"' showing total 2 results
Start Over Author "Marcelo de Melo Aragão" Journal neurology
2 results on '"Marcelo de Melo Aragão"'

1. Teaching NeuroImages: When the Teeth are the Clue to the Etiology of an Epileptic Encephalopathy

Author

Marcelo Rodrigues Masruha, Victor Hugo Pantoja Leão, Marcelo de Melo Aragão, and Ricardo Silva Pinho

Subjects
Pediatrics, medicine.medical_specialty, Amelogenesis Imperfecta, Day of life, Compound heterozygosity, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Intellectual disability, Brain mri, Humans, Medicine, 030212 general & internal medicine, Global developmental delay, Exome sequencing, Epilepsy, Symporters, Tooth Abnormalities, business.industry, Epileptic encephalopathy, medicine.disease, Mutation, Etiology, Dementia, Epilepsy, Generalized, Female, Neurology (clinical), business, 030217 neurology & neurosurgery
Abstract

A 24-year-old woman with severe intellectual disability presented with refractory epilepsy since the first day of life. She had global developmental delay and remarkable abnormalities in both primary and secondary teeth (figure). Brain MRI was normal. A whole exome sequencing revealed SLC13A5 compound heterozygous mutations C>T at chr17:6.606.350, p.Gly219Arg, and G>A at chr17:6.590.909, p.Pro505Leu.

Published
2020
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2. The cerebellar histiocytosis

Author

Orlando Graziani Povoas Barsottini, Leonardo Furtado Freitas, Victor Hugo Rocha Marussi, José Luiz Pedroso, Pedro Braga-Neto, Igor de Assis Franco, Marcelo Rodrigues Masruha, Marcela Amaral Avelino, and Marcelo de Melo Aragão

Subjects
Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Pathology, medicine.medical_specialty, Adolescent, Cerebellar Ataxia, Disease, 03 medical and health sciences, 0302 clinical medicine, Cerebellum, medicine, Humans, 030212 general & internal medicine, Child, Autosomal recessive inheritance, business.industry, medicine.disease, Magnetic Resonance Imaging, Progressive ataxia, Histiocytosis, Disease Progression, Female, Neurology (clinical), business, 030217 neurology & neurosurgery
Abstract

Cerebellar ataxias may have genetic and nongenetic causes. Early-onset and progressive ataxias are frequently related to an autosomal recessive inheritance. However, some nongenetic ataxias may occur in childhood or young adulthood.1,2

Published
2018
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