Resumo

RAMIREZ-ZULUAGA, Liliana Patricia; RUANO-RESTREPO, Mario Iván; OSORIO-BERMUDEZ, Juan David  e  DIAZ-VALLEJO, Jhony Alejandro. Atypical presentation of Camurati-Engelmann syndrome in a colombian female patient. Case report. Medicas UIS [online]. 2021, vol.34, n.1, pp.119-127.  Epub 01-Abr-2021. ISSN 0121-0319.  https://doi.org/10.18273/revmed.v34n1-2021013.

Camurati-Engelmann syndrome, also known as progressive diaphyseal dysplasia, is a rare, autosomal dominant disease with a prevalence of one per million inhabitants. It generates mutations of the transforming growth factor beta, which participates in bone proliferation. Osteomuscular and neurological manifestations are frequent, with few laboratory expressions. The diagnosis is based on the clinic, radiological findings, and genetic confirmation, treatment is aimed at symptom control and prognosis is uncertain. The objective of this publication is to share with the medical community the third case of Camurati-Engelmann syndrome known in Colombia. This is a 33-year- old female patient with a clinical picture of intense dystonia and characteristic signs and symptoms of this syndrome, whose diagnosis was confirmed by molecular testing, finding the presence of the pathogenic variant p.Arg156Cys in the TGF-β1 gene, with de novo presentation. MÉD.UIS.2021;34(1): 119-27.

Palavras-chave : Camurati-Engelmann Syndrome; Transforming Growth Factor beta; Dystonic Disorders; Hyperostosis.

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