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Revista mexicana de pediatría
Print version ISSN 0035-0052
Abstract
MORENO-GIRALDO, Lina Johanna; RAMIREZ-RAMIREZ, Stephany; ARTURO-TERRANOVA, Daniela and SATIZABAL-SOTO, José María. Camurati-Engelmann disease. Rev. mex. pediatr. [online]. 2020, vol.87, n.6, pp.221-226. Epub June 27, 2022. ISSN 0035-0052. https://doi.org/10.35366/97684.
Introduction:
Camurati-Engelmann disease is an autosomal dominant sclerosing bone dysplasia, estimated at 1:1,000,000 people, with approximately 300 cases reported worldwide. Mutations in TGFB1 gene have been associated with the development of the disease. The objective is to describe clinically and molecularly a Colombian infant with this disease.
Clinical case:
22-month-old female patient, daughter of the first pregnancy of non-consanguineous parents, with no family history of diseases. The clinical picture consisted of limb weakness, signs of compromise of the osteo-arthro-neuromuscular system, hence, bone dysplasia was suspected. Molecular study by complete exome sequencing and genomic-bioinformatics study, using in-silico technology, was performed. A missense mutation (c.466C> T; p.Arg156Cys) was found in the TGFB1 gene; by bioinformatics, it was determined that this genetic variant had pathogenic clinical significance.
Conclusion:
This case provides data from the Camurati-Engelmann disease, highlighting the importance of genomic and bioinformatics techniques for its diagnosis.
Keywords : Camurati-Engelmann; contracture; infant; osteo-arthro-neuromuscular malformation; exome sequencing.