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Dive into the research topics where Alfredo Cerisola is active.

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Featured researches published by Alfredo Cerisola.


Pediatric Neurology | 2011

Locked-In Syndrome in Three Children With Guillain-Barré Syndrome

Conrado Medici; Gabriel González; Alfredo Cerisola; Cristina Scavone

Locked-in syndrome is a rare disorder in childhood. It resembles brain death, but patients are fully conscious, and incapable of communicating because of the complete paralysis of voluntary muscles. Although it can be caused by Guillain-Barré syndrome, it is rarely reported in pediatrics. We describe three pediatric cases of locked-in syndrome in patients with Guillain-Barré syndrome presenting acute tetraplegia, areflexia, cranial nerve involvement, and albuminocytologic dissociation in the cerebrospinal fluid. Electrophysiologic studies indicated acute motor axonal polyradiculoneuropathy in one patient, and acute motor sensory axonal polyradiculoneuropathy in the other two. Most Guillain-Barré syndrome patients with locked-in syndrome demonstrate nerve inexcitability in neurophysiologic studies, poor clinical outcomes, and increased risk of sequelae.


Mitochondrion | 2016

3697G>A in MT-ND1 is a causative mutation in mitochondrial disease.

Lucía Spangenberg; Martín Graña; Gonzalo Greif; Juan Suárez-Rivero; Karina Krysztal; Alejandra Tapié; María Boidi; Valeria Fraga; Aída Lemes; Rosario Gueçaimburú; Alfredo Cerisola; José A. Sánchez-Alcázar; Carlos Robello; Victor Raggio; Hugo Naya

Mitochondrial diseases are a group of clinically heterogeneous disorders that can be difficult to diagnose. We report a two and a half year old girl with clinical symptoms compatible with Leigh disease but with no definitive diagnosis. Using next generation sequencing we found that mutation 3697G>A was responsible for the patients clinical symptoms. Corroboration was performed via segregation analysis in mother and sister and by evolutionary analysis that showed that the mutation is located in a highly conserved region across a wide range of species. Functional analyses corroborated the mutation effect and indicated that the pathophysiological alterations were partially restored by Coenzyme Q10. In addition, we proposed that the presence of the mutation at high frequencies causes the phenotype in the patient, while other family members with intermediate levels of heteroplasmy are symptoms-free.


Journal of Child Neurology | 2013

Unusual Case of Phenylketonuria With Atypical Brain Magnetic Resonance Imaging Findings

Conrado Medici; Claudio Varacchi; Gabriel González; Aída Lemes; Alfredo Cerisola; Virginia Pedemonte; Nenad Blau

Phenylketonuria is a treatable inborn error of amino acid metabolism caused by deficiency of the enzyme phenylalanine hydroxylase, responsible for converting phenylalanine to tyrosine. We report a 10-month-old boy with psychomotor regression and infantile spasms. He was diagnosed with classic phenylketonuria and West syndrome. Treatment was initiated with phenylalanine-restricted diet and vigabatrin. After 5 months of treatment, he persists with developmental delay, severe hypotonia, swallowing disorder, and drug-resistant epilepsy. Brain magnetic resonance imaging showed the typical abnormalities in supratentorial white matter and exceptional infratentorial and basal ganglia compromise. Severity of white matter abnormalities and neurologic symptoms correlates with blood levels of phenylalanine. Infratentorial changes occur in severe cases. Other mechanisms could take part in cases like this with atypical neuroimaging abnormalities of the basal ganglia.


Archivos de Pediatría del Uruguay | 2009

Encefalomielitis difusa aguda en la edad pediátrica

Gabriela Capote; Alfredo Cerisola; Gabriel González; Sully López; Cristina Scavone


Archivos de Pediatría del Uruguay | 2009

Espasmos epilépticos de inicio tardío: presentación de un caso clínico

Gabriela Capote Moreira; Alfredo Cerisola; Cristina Scavone


European Journal of Paediatric Neurology | 2017

Targeted next generation sequencing in patients with infantile bilateral striatal necrosis

Juan Darío Ortigoza-Escobar; Laura Martí-Sánchez; Marta Molero-Luis; Carles Aviles; Heidy Baide; Jordi Muchart; Mónica Rebollo; Yannick J. Crow; J.C. Cabrera-Lopez; Marcos Madruga-Garrido; Olga Alonso-Luengo; Pilar Quijada-Fraile; Elena Martín-Hernández; María Teresa García-Silva; Alfredo Cerisola; Ramón Velázquez-Fragua; Elisabeth Schuler; Eduardo López-Laso; L.G. Gutierrez Solana; Belén Pérez-Dueñas


Revista Uruguaya de Medicina Interna | 2016

Neurofibromatosis segmentaria: una entidad subdiagnosticada

Melania Rosas; Alfredo Cerisola; Fernando Martínez; Carolina Gontade; Conrado Medici; Gabriel González


Archivos de Pediatría del Uruguay | 2016

Asociación de melanocitosis dérmica con enfermedades lisosomales

Lucía Cibils; Conrado Medici; Francisco Espinel; Karina Malan; Aída Lemes; Alfredo Cerisola; Gabriel González


Archive | 2015

Primera experiencia de tratamiento con everolimus en un paciente con esclerosis tuberosa y astrocitoma subependimario de células gigantes en Uruguay First experience of everolimus in patients with tuberous sclerosis and subependymal giant cell astrocytoma in Uruguay

Diego Costales; Conrado Medici; Alfredo Cerisola


Archivos de Pediatría del Uruguay | 2015

Guillain-Barré syndrome: Twelve years of experience

Lucía Cibils; Alfredo Cerisola; Gabriela Capote; Carina Ferreira; Natalia Rodríguez; Conrado Medici; Gabriel González; Cristina Scavone

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Gabriel González

Boston Children's Hospital

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Conrado Medici

Boston Children's Hospital

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Cristina Scavone

Boston Children's Hospital

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Lucía Cibils

Centro Hospitalario Pereira Rossell

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Claudio Varacchi

Boston Children's Hospital

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Nenad Blau

Boston Children's Hospital

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