ResumoIntrodução: A síndrome de Cornelia de Lange (SCdL) corresponde a uma condição rara caracterizada por mutações nos genes responsáveis pelas proteínas estruturais e reguladoras do complexo da coesina, levando o paciente à distrofia facial e aos atrasos no crescimento e desenvolvimento. Seu diagnóstico é baseado nos achados clínicos e/ou a identificação da heterozigose patogênica variante em N1PBL, RAD21, ou SMC3 ou homozigose patogênica variante em HDAC8 ou SMC1A. Essa síndrome possui um amplo espectro de manifestações que incluem anormalidades neurológicas, endocrinológicas, musculoesqueléticas e cutâneas. A Doença de Graves, por sua vez, representa o expoente mais comum de hipertireodismo, possui origem autoimune e resulta de uma complexa interação entre fatores genéticos e ambientais. Relato de caso: Este artigo tem por objetivo relatar um caso de uma paciente de 22 anos com diagnóstico de SCdL, a qual abriu o quadro de hipertireoidismo por Doença de Graves, apresentando insônia, irritabilidade e agitação, com melhora após tratamento medicamentoso. Palavras-chave:Hipertireoidismo. Síndrome de Cornélia de Lange. Doença de Graves. AbstractIntroduction: The Cornelia de Lange syndrome is a rare condition characterized by mutations in genes responsible for structural and regulatory proteins of the coesin complex, causing facial dystrophy, delays in development and growth. Your Diagnosis is based on clinical findings and/or the identification of a heterozygous pathogenic variant in NIPBL, RAD21 and SMC3 or a hemizyous pathogenic variant in HDAC8 or SMC1A. This syndrome has a wide spectrum of manifestations that includes neurological, endocrinological, muscle-skeletal and cutaneous abnormalities. Graves' disease, in turn, represents the most common etiology of hyperthyroidism; it has an autoimmune origin and results from a complex interaction between genetic and environmental factors. Case report: Therefore, the current study aims to report a case of a 22-year-old female with diagnosis of Graves' disease, presenting insomnia, irritability and restlessness with improvement after drug treatment.
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