RESUMO
ABSTRACT INTRODUCTION: Angelman syndrome is characterized by severe mental retardation and speech and seizure disorders. This rare genetic condition is associated with changes in GABAA receptor. Patients with Angelman syndrome need to be sedated during an electroencephalogram ordered for diagnostic purposes or evolutionary control. Dexmedetomidine, whose action is independent of GABA receptor, promotes a sleep similar to physiological sleep and can facilitate the performing of this examination in patients with Angelman syndrome. CASE REPORT: Female patient, 14 years old, with Angelman syndrome; electroencephalogram done under sedation with dexmedetomidine. The procedure was uneventful and bradycardia or respiratory depression was not recorded. The examination was successfully interpreted and epileptiform activity was not observed. CONCLUSION: Dexmedetomidine promoted satisfactory sedation, was well tolerated and enabled the interpretation of the electroencephalogram in a patient with Angelman syndrome and seizure disorder.
RESUMO INTRODUÇÃO: a síndrome de Angelman (SA) é caracterizada por retardo mental grave, distúrbio da fala e desordem convulsiva. Essa condição genética rara está associada a alterações do receptor GABA-A. Pacientes portadores de SA necessitam ser sedados durante a feitura de eletroencefalograma (EEG), indicado para fins diagnósticos ou controle evolutivo. A dexmedetomidina, cuja ação independe do receptor GABA, promove sono semelhante ao fisiológico e pode viabilizar a feitura desse exame em pacientes com SA. RELATO DE CASO: paciente feminina, 14 anos, portadora de SA, fez EEG sob sedação com dexmedetomidina. O procedimento transcorreu sem intercorrências e não foi registrada bradicardia ou depressão respiratória. O exame foi interpretado com sucesso e atividade epileptiforme não foi observada. CONCLUSÃO: a dexmedetomidina promoveu sedação satisfatória, foi bem tolerada e possibilitou a interpretação do EEG em paciente com SA e desordem convulsiva.
Assuntos
Humanos , Feminino , Adolescente , Síndrome de Angelman/complicações , Dexmedetomidina/administração & dosagem , Eletroencefalografia/métodos , Hipnóticos e Sedativos/administração & dosagem , Síndrome de Angelman/fisiopatologia , Dexmedetomidina/efeitos adversos , Hipnóticos e Sedativos/efeitos adversosRESUMO
INTRODUCTION: Angelman syndrome is characterized by severe mental retardation and speech and seizure disorders. This rare genetic condition is associated with changes in GABAA receptor. Patients with Angelman syndrome need to be sedated during an electroencephalogram ordered for diagnostic purposes or evolutionary control. Dexmedetomidine, whose action is independent of GABA receptor, promotes a sleep similar to physiological sleep and can facilitate the performing of this examination in patients with Angelman syndrome. CASE REPORT: Female patient, 14 years old, with Angelman syndrome; electroencephalogram done under sedation with dexmedetomidine. The procedure was uneventful and bradycardia or respiratory depression was not recorded. The examination was successfully interpreted and epileptiform activity was not observed. CONCLUSION: Dexmedetomidine promoted satisfactory sedation, was well tolerated and enabled the interpretation of the electroencephalogram in a patient with Angelman syndrome and seizure disorder.
Assuntos
Síndrome de Angelman/complicações , Dexmedetomidina/administração & dosagem , Eletroencefalografia/métodos , Hipnóticos e Sedativos/administração & dosagem , Adolescente , Síndrome de Angelman/fisiopatologia , Dexmedetomidina/efeitos adversos , Feminino , Humanos , Hipnóticos e Sedativos/efeitos adversosRESUMO
Angelman syndrome (AS) is a neurogenetic disorder, characterized by intellectual disability, movement or balance disorders, specific abnormal behaviors, and severe speech and language limitations. Due to its low incidence and the nonspecifity of developmental problems in newborns and young children, AS is not easily identified by clinical pediatricians. The aim of this paper is to present three cases of AS, reporting the orofacial characteristics and requisite dental care in these patients. Interestingly, this investigation found that certain typical features of mouth breathing syndrome, such as long and narrow faces, open mouth, shortened upper lip, lowered mandible position, shadows under the eyes (infraorbital cyanosis), muscular hypotonia, and enlarged and anteriorized tongue, were present in the three studied AS patients.
Assuntos
Síndrome de Angelman/complicações , Assistência Odontológica para a Pessoa com Deficiência , Deficiência Intelectual , Saúde Bucal , Criança , Pré-Escolar , Face/anormalidades , Feminino , Humanos , Lábio/anormalidades , Masculino , Má Oclusão/etiologia , Destreza Motora/fisiologia , Anormalidades da Boca/etiologia , Respiração Bucal/etiologia , Hipotonia Muscular/etiologia , Prognatismo/etiologia , Língua/anormalidades , Adulto JovemRESUMO
Angelman syndrome (AS) is a rare genetic neurological disorder. The main clinical characteristics of this syndrome are delayed neuropsychological development, intellectual disability, speech impairment, movement or balance disorder, and a behavioural uniqueness. The syndrome has oral manifestations such as diastemas, tongue thrusting, sucking/swallowing disorder, mandibular prognathism, a wide mouth, frequent drooling, and excessive chewing behaviour. The dental literature on the syndrome is scarce. The purpose of paper is to describe the interesting aspects of the dental treatment of a child with AS.
Assuntos
Síndrome de Angelman/complicações , Assistência Odontológica para a Pessoa com Deficiência , Pré-Escolar , Diastema/terapia , Seguimentos , Humanos , Incisivo/patologia , Masculino , Mordida Aberta/terapia , Higiene Bucal , Ortodontia Corretiva , Comportamento de Sucção , Hábitos Linguais/terapiaRESUMO
BACKGROUND: Angelman syndrome (AS) is a neurogenetic disorder characterized by severe mental retardation, speech disorder, stereotyped jerky movements, and a peculiar behavioral profile, with a happy disposition and outbursts of laughter. Most patients with AS present with epilepsy and suggestive electroencephalographic patterns, which may be used as diagnostic criteria. OBJECTIVE: To study epilepsy and response to treatment in a series of patients with AS determined by deletion. DESIGN: Parent and caregiver interview and medical record review. SETTING: Epilepsy Center at the University of São Paulo. PATIENTS: Nineteen patients with AS determined by deletion of chromosome 15q11-13. MAIN OUTCOME MEASURES: Epilepsy severity, epilepsy evolution, and response to antiepileptic drug treatment. RESULTS: All patients with AS in this group had generalized epilepsy, and 10 (53%) also had partial epilepsy. Main seizure types were atypical absences and myoclonic and tonic-clonic seizures. Mean age at onset was 1 year 1 month. Epilepsy aggravated by fever occurred in 10 patients (53%) and status epilepticus in 16 (84%). Eighteen patients (95%) had previous or current history of daily seizures, of which 14 (64%) had disabling seizures. Multiple seizure types were observed in 13 patients (53%). History of refractory epilepsy was reported in 16 patients (84%). Parents reported improvement, characterized by decrease in seizure frequency or seizure control, at the mean age of 5.3 years. Therefore, most of these patients had a period of refractory epilepsy; however, improvement occurred during late childhood and puberty. The best therapeutic response was obtained with valproic acid alone or in association with phenobarbital or clonazepam. Epilepsy was aggravated by carbamazepine, oxcarbazepine, and vigabatrin. CONCLUSIONS: Patients with AS with deletion have epilepsy with early onset and stereotyped electroclinical profile regarding seizure type, severity, and response to antiepileptic drug treatment. Another feature of AS is the age-related improvement, even in refractory cases, during late childhood and puberty. These characteristics are not specific to this syndrome but, when inserted in the proper clinical context, may anticipate diagnosis. We believe that AS should be considered a differential diagnosis in developmentally delayed infants with severe, generalized, cryptogenic epilepsy; however, a proper electroclinical delineation of each genetic group is mandatory.
Assuntos
Síndrome de Angelman/complicações , Deleção Cromossômica , Cromossomos Humanos Par 15/genética , Epilepsia/etiologia , Epilepsia/genética , Adolescente , Idade de Início , Anticonvulsivantes/uso terapêutico , Criança , Pré-Escolar , Análise Mutacional de DNA/métodos , Progressão da Doença , Eletroencefalografia/métodos , Epilepsia/classificação , Epilepsia/tratamento farmacológico , Feminino , Febre/etiologia , Seguimentos , Humanos , Masculino , Resultado do TratamentoRESUMO
Se describen dos niños con Síndrome de Angelman, diagnosticados antes de los dos años de edad. La sospecha clínica basada en la presencia de retraso global del desarrollo, ausencia de lenguaje, temblores y/o movimientos anormales y risa fácil, permitió plantear el diagnóstico y solicitar el estudio genético confirmatorio. El diagnóstico precoz es importante ya que evita exámenes innecesarios, permite informar a los padres de su evolución a futuro, dar asesoría genética y un tratamiento apropiado al paciente.
Assuntos
Masculino , Humanos , Lactente , Síndrome de Angelman/diagnóstico , Síndrome de Angelman/genética , Metilação de DNA , Diagnóstico Precoce , Deficiências do Desenvolvimento/genética , Cariotipagem , Síndrome de Angelman/complicações , Sinais e SintomasRESUMO
The authors describe the case of a typical Angelman syndrome patient. The proband presents developmental delay, mental retardation, macrostomia, wide-spaced teeth, seizures, absent speech, jerky gait, and paroxysms of laughter. The cytogenetic and molecular studies showed a maternal deletion of 15q11q13. These results are in agreement with the clinical diagnosis of Angelman syndrome.