Síndrome de Pitt-Hopkins: relato de caso com fenótipo atenuado
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A síndrome de Pitt-Hopkins (PTHS) é uma síndrome de neurodesenvolvimento rara provocada por mutações no gene TCF4, usualmente associado a atraso neuropsicomotor, crises convulsivas, distúrbios respiratórios, deficiência intelectual e dismorfias faciais. Relatamos o caso de paciente brasileira com mutação no gene TCF4 apresentando sinais clínicos compatíveis com a PTHS, embora não apresentando o característico distúrbio respiratório. A paciente apresenta uma nova mutação no gene
TCF4 previamente não descrita na literatura e um fenótipo clínico mais atenuado em comparação com pacientes descritos anteriormente.
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Esta obra está bajo una licencia internacional Creative Commons Atribución 4.0.
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