Results 1 to 10 of about 85,460 (124)
Espasmos infantiles como primera manifestación de la acidemia propiónica
Anales de Pediatría, 2005 Propionic acidemia is a disorder of branch-chain amino acids, the side chain of cholesterol and odd-chain fatty acid metabolism that leads to the accumulation of toxic acid metabolites. The clinical features typically begin shortly after birth, although they can also appear in young adulthood. We report the case of a 3-year-old boy with atypical onset,
L. Aldamiz-Echevarría Azuar +4 more
semanticscholar +4 more sources
Síndrome de aicardi: reporte de un caso
Revista GICOS, 2023 El síndrome de Aicardi (SA), es un trastorno genético raro, cuya incidencia es de aproximadamente 1/100.000. Fue descrito por primera vez en 1965 por el neurólogo francés Dr.
Juan Jerez
doaj +2 more sources
Pesquisa etiológica en espasmos masivos [PDF]
Revista chilena de pediatría, 1991 A systematic clinical protocol was applied in 16 infants that suffered from infantile spasms (IS) in order to identify etiologic factors. A positive family history was present in 2/16 patients and relevant perinatal or postnatal pathology in 5/16. Psychomotor retardation and other seizures anteceded IS in 10/16 and 8/16 infants respectively.
López S, Isabel +6 more
openaire +4 more sources
Tratamiento de espasmos masivos con ACTH sintético [PDF]
Revista chilena de pediatría, 1991 Ten infants with infantile spasms (IS) and hypsarrhytmic EEC, received 0.5 mg i.m. of synthetic ACTH, three times a week for 2 weeks. Six of them showed complete remission of seizures and dramatical EEG changes, and 3 cases resulted in a partial response. Spasms were controlled during the first week in 5/6 cases where treatment was successful.
Lopez S, Isabel +3 more
openaire +4 more sources
[Epilepsy and inborn errors of metabolism]. [PDF]
Rev NeurolIntroducción. La epilepsia es una manifestación común en los errores congénitos del metabolismo, con gravedad y respuesta al tratamiento variables. Objetivo. Determinar su incidencia y características en enfermedades metabólicas. Material y métodos.
Moya-López S +7 more
europepmc +2 more sources
Impact of therapeutic hypothermia on infantile spasms: an observational cohort study. [PDF]
Dev Med Child Neurol, 2020 Aim: To establish the incidence of infantile spasms in children in the southern region of the Republic of Ireland and to compare the incidence of infantile spasms before and after the introduction of therapeutic hypothermia in infants with hypoxic ...
Abu Dhais F +6 more
europepmc +3 more sources
Espasmos infantis: experiência em treze casos [PDF]
Arquivos de Neuro-Psiquiatria, 2000 Os espasmos infantis são crises típicas da primeira infância e constituem patologia grave, com prognóstico sombrio. Apresentamos a experiência no tratamento de 13 casos novos atendidos no Serviço de Neurologia Infantil do Centro Geral de Pediatria FHEMIG de Belo Horizonte no ano de 1997, bem como revisão da literatura sobre o assunto. Após propedêutica
Andréa Lara Oliveira +1 more
openaire +9 more sources
Síndrome de Aicardi: revisión bibliográfica
Pediatría (Asunción), 2023 Introducción: el síndrome de Aicardi (SA; OMIM #304050) es un trastorno genético raro, cuya incidencia es de aproximadamente 1/100.000. Fue descrito en 1965 como una triada consistente en agenesia del cuerpo calloso, lagunas coriorretinianas y espasmos ...
Cristina Toledo Gotor +5 more
semanticscholar +1 more source
A very rare cause of infantile spasms
Nascer e Crescer, 2020 NASCER E CRESCER - BIRTH AND GROWTH MEDICAL JOURNAL, Vol. 29 No. 2 (2020)
Fonseca, Margarida Silva +4 more
openaire +2 more sources
Frontiers in Pediatrics, 2022 We present an interesting report of a 5-month-old infant with epileptic spasms and developmental delay who presented with non-isolated ventriculomegaly in utero and whose brain magnetic resonance imaging revealed right ventricular choroid plexus papilloma (CPP).
Faliang Zhou +4 more
openaire +3 more sources