SÍNDROMES GENÉTICAS Um guia prático de apoio no Ambulatório de Odontopediatria do IMIP
Deyse Camilla Gomes dos Santos
Lorem Ipsum is simply dummy text of the printing and typesetting industry. Lorem Ipsum has been the industry’s standard dummy text ever since the 1500s, when an unknown printer took a galley of type and scrambled it to make a type specimen book.
Lorem Ipsum is simply dummy text of the printing and typesetting industry. Lorem Ipsum has been the industry’s standard dummy text ever since the 1500s, when an unknown printer took a galley of type and scrambled it to make a type specimen book. It has survived not only five centuries, but also the leap into electronic typesetting, remaining essentially unchanged. It was popularised in the 1960s with the release of Letraset sheets containing Lorem Ipsum passages, and more recently with desktop publishing software like Aldus PageMaker including versions of Lorem Ipsum.
Lorem Ipsum is simply dummy text of the printing and typesetting industry. It has survived not only five centuries, but also the leap into electronic typesetting, remaining essentially unchanged.
Observação: Aqui serão as Notas Técnicas
Observação: Aqui será a dedicatória
Lorem Ipsum is simply dummy text of the printing and typesetting industry. Lorem Ipsum has been the industry’s standard dummy text ever since the 1500s, when an unknown printer took a galley of type and scrambled it to make a type specimen book. It has survived not only five centuries, but also the leap into electronic typesetting, remaining essentially unchanged.
AUTORES
Lorem Ipsum is simply dummy text of the printing and typesetting industry. Lorem Ipsum has been the industry’s standard dummy text ever since the 1500s, when an unknown printer took a galley of type and scrambled it to make a type specimen book. It has survived not only five centuries, but also the leap into electronic typesetting, remaining essentially unchanged. It was popularised in the 1960s with the release of Letraset sheets containing Lorem Ipsum passages, and more recently with desktop publishing software like Aldus PageMaker including versions of Lorem Ipsum. Lorem Ipsum is simply dummy text of the printing and typesetting industry. Lorem Ipsum has been the industry’s standard dummy text ever since the 1500s, when an unknown printer took a galley of type and scrambled it to make a type specimen book. It has survived not only five centuries, but also the leap into electronic typesetting, remaining essentially unchanged. It was popularised in the 1960s with the release of Letraset sheets containing Lorem Ipsum passages, and more recently with desktop publishing software like Aldus PageMaker including versions of Lorem Ipsum. Lorem Ipsum is simply dummy text of the printing and typesetting indus-
try. Lorem Ipsum has been the industry’s standard dummy text ever since the 1500s, when an unknown printer took a galley of type and scrambled it to make a type specimen book. It has survived not only five centuries, but also the leap into electronic typesetting, remaining essentially unchanged. It was popularised in the 1960s with the release of Letraset sheets containing Lorem Ipsum passages, and more recently with desktop publishing software like Aldus PageMaker including versions of Lorem Ipsum. Lorem Ipsum is simply dummy text of the printing and typesetting industry. Lorem Ipsum has been the industry’s standard dummy text ever since the 1500s, when an unknown printer took a galley of type and scrambled it to make a type specimen book. It has survived not only five centuries, but also the leap into electronic typesetting, remaining essentially unchanged. It was popularised in the 1960s with the release of Letraset sheets containing Lorem Ipsum passages, and more recently with desktop publishing software like Aldus PageMaker including versions of Lorem Ipsum.
AGRADECIMENTOS
Lorem Ipsum is simply dummy text of the printing and typesetting industry. Lorem Ipsum has been the industry’s standard dummy text ever since the 1500s, when an unknown printer took a galley of type and scrambled it to make a type specimen book. It has survived not only five centuries, but also the leap into electronic typesetting, remaining essentially unchanged. It was popularised in the 1960s with the release of Letraset sheets containing Lorem Ipsum passages, and more recently with desktop publishing software like Aldus PageMaker including versions of Lorem Ipsum. Lorem Ipsum is simply dummy text of the printing and typesetting industry. Lorem Ipsum has been the industry’s standard dummy text ever since the 1500s, when an unknown printer took a galley of type and scrambled it to make a type specimen book. It has survived not only five centuries, but also the leap into electronic typesetting, remaining essentially unchanged. It was popularised in the 1960s with the release of Letraset sheets containing Lorem Ipsum passages, and more recently with desktop publishing software like Aldus PageMaker including versions of Lorem Ipsum. Lorem Ipsum is simply dummy text of the printing and typesetting indus-
try. Lorem Ipsum has been the industry’s standard dummy text ever since the 1500s, when an unknown printer took a galley of type and scrambled it to make a type specimen book. It has survived not only five centuries, but also the leap into electronic typesetting, remaining essentially unchanged. It was popularised in the 1960s with the release of Letraset sheets containing Lorem Ipsum passages, and more recently with desktop publishing software like Aldus PageMaker including versions of Lorem Ipsum. Lorem Ipsum is simply dummy text of the printing and typesetting industry. Lorem Ipsum has been the industry’s standard dummy text ever since the 1500s, when an unknown printer took a galley of type and scrambled it to make a type specimen book. It has survived not only five centuries, but also the leap into electronic typesetting, remaining essentially unchanged. It was popularised in the 1960s with the release of Letraset sheets containing Lorem Ipsum passages, and more recently with desktop publishing software like Aldus PageMaker including versions of Lorem Ipsum.
PREFÁCIO
Lorem Ipsum is simply dummy text of the printing and typesetting industry. Lorem Ipsum has been the industry’s standard dummy text ever since the 1500s, when an unknown printer took a galley of type and scrambled it to make a type specimen book. It has survived not only five centuries, but also the leap into electronic typesetting, remaining essentially unchanged. It was popularised in the 1960s with the release of Letraset sheets containing Lorem Ipsum passages, and more recently with desktop publishing software like Aldus PageMaker including versions of Lorem Ipsum. Lorem Ipsum is simply dummy text of the printing and typesetting industry. Lorem Ipsum has been the industry’s standard dummy text ever since the 1500s, when an unknown printer took a galley of type and scrambled it to make a type specimen book. It has survived not only five centuries, but also the leap into electronic typesetting, remaining essentially unchanged. It was popularised in the 1960s with the release of Letraset sheets containing Lorem Ipsum passages, and more recently with desktop publishing software like Aldus PageMaker including versions of Lorem Ipsum. Lorem Ipsum is simply dummy text of the printing and typesetting indus-
try. Lorem Ipsum has been the industry’s standard dummy text ever since the 1500s, when an unknown printer took a galley of type and scrambled it to make a type specimen book. It has survived not only five centuries, but also the leap into electronic typesetting, remaining essentially unchanged. It was popularised in the 1960s with the release of Letraset sheets containing Lorem Ipsum passages, and more recently with desktop publishing software like Aldus PageMaker including versions of Lorem Ipsum. Lorem Ipsum is simply dummy text of the printing and typesetting industry. Lorem Ipsum has been the industry’s standard dummy text ever since the 1500s, when an unknown printer took a galley of type and scrambled it to make a type specimen book. It has survived not only five centuries, but also the leap into electronic typesetting, remaining essentially unchanged. It was popularised in the 1960s with the release of Letraset sheets containing Lorem Ipsum passages, and more recently with desktop publishing software like Aldus PageMaker including versions of Lorem Ipsum.
SĂšMĂ RIO
13. Aicardi Lorem Ipsum is simply dummy text of the printing and typesetting industry. 15. Alagille Lorem Ipsum is simply dummy text of the printing and typesetting industry. 17. Aalgelman Lorem Ipsum is simply dummy text of the printing and typesetting industry. 15. Aicardi Lorem Ipsum is simply dummy text of the printing and typesetting industry. 16. Alagille Lorem Ipsum is simply dummy text of the printing and typesetting industry. 16. Aalgelman Lorem Ipsum is simply dummy text of the printing and typesetting industry. 15. Aicardi Lorem Ipsum is simply dummy text of the printing and typesetting industry.
16. Alagille Lorem Ipsum is simply dummy text of the printing and typesetting industry. 16. Aalgelman Lorem Ipsum is simply dummy text of the printing and typesetting industry. 15. Aicardi Lorem Ipsum is simply dummy text of the printing and typesetting industry. 16. Alagille Lorem Ipsum is simply dummy text of the printing and typesetting industry. 16. Aalgelman Lorem Ipsum is simply dummy text of the printing and typesetting industry. 15. Aicardi Lorem Ipsum is simply dummy text of the printing and typesetting industry. 16. Alagille Lorem Ipsum is simply dummy text of the printing and typesetting industry.
lias oculares podem causar cegueira nos indivíduos afetados.1 Os espasmos são observados precocemente e tendem a evoluir para epilepsia.1,4 As características faciais atrubuídas a síndrome de Aicardi incluem um filtro labial curto, maxila proeminente com a ponta nasal invertida resultando em um ângulo estreitado da ponte nasal, orelhas grandes e sobrancelhas esparsas, plagiocefalia e assimetria facial.4 São comuns anormalidades na coluna e na costela, levando à curvatura anormal progressiva da coluna (escoliose). Eles costumam ter problemas gastrointestinais, como constipação ou diarreia, refluxo gastroesofágico e dificuldade de alimentação.1,4
AICARDI
É
uma síndrome caracterizada por três sinais: ausência do corpo caloso, espasmos que tendem a evoluir para convulsões e lacunas coriorretinianas.1-3
Radiográficas: Ressonância magnética, tomografia computadorizada e radiografias simples ajudam a determinar as características da síndrome: agenesia do corpo caloso, alterações neurológicas, malformações esqueléticas.
Etiologia A etiologia ainda permanece desconhecida. Acredita-se que um dos cromossomos X sofra inativação. Os casos não são herdados, ocorrem como consequência de novas mutações. Epidemiologia
Tratamento
Ocorre quase que exclusivamente em mulheres.1 No entanto, foram relatados alguns casos em homens com constituição cromossômica 47, XXY (Síndrome de Klinefelter).2,3 A prevalência e incidência exatas são incertas.3
Não existe tratamento conhecido para a Síndrome de Aicardi, mas os sintomas podem ser controlados dependendo das condições do paciente. Pacientes com convulsões geralmente são tratados com múltiplos antiepiléticos para controle das crises.4 Terapia ocupacional e fonoaudiologia podem ser úteis para o desenvolvimento. As condições gastrointestinais podem ser tratadas por um gastroenterologista. os problemas oftálmicos devem ser acompanhados pelo especialista.
Características Clínicas: Os indivíduos afetados pela síndrome apresentam anormalidades cerebrais adicionais: assimetria entre os dois lados do cérebro, dobras cerebrais e sulcos de tamanho pequeno ou reduzido em número, cistos, além de microcefalia. A maioria tem atraso moderado a grave no desenvolvimento e deficiência intelectual, embora algumas pessoas com esse distúrbio tenham uma deficiência mais leve.1,2 Além das lacunas coriorretinianas, podem ser observados microftalmia, colobomas da retina e do nervo óptico.2 Essas anoma-
Diagnóstico O diagnóstico é baseado em características clínicas, imagens cerebrais e achados esqueléticos. Não há exame de sangue ou outro teste de diagnóstico clínico para confirmar o diagnóstico.2
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Fique ligado!
Ocasionalmente, pode ocorrer fendas labiais ou palatinas nos pacientes afetados. Também foi relatado a sequência de Pierre-Robin em um caso.4
Referências
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1. U.S. National Library of Medicine. Genetics Homes Reference. [online]. Recife, Brasil; 2020. [acesso 03 ago 2020]. Disponível em: https://ghr.nlm.nih.gov/ condition/aicardi-syndrome
2. Orphanet. Síndrome de Aicardi. [online]. Recife, Brasil; 2020. [acesso 03 ago 2020]. Disponível em:https://www.orpha. net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=254 3. Lalrameng Mawii, Khayati Moudgil. Corpus Callosum Agenesis with Chorioretinal Abnormality (Aicardi Syndrome): An Educational Review. Pharmacophore, 2020; 10(2), 36-39. 4. Bakkali, Ouajid, et al. The Aicardi Syndrome: Case Report about a 3-month-old Infant. Asian Journal of Case Reports in Medicine and Health, 2020; 1-7. acterísticas
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