2020, Number 6
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Rev Mex Pediatr 2020; 87 (6)
Camurati-Engelmann disease
Moreno-Giraldo LJ, Ramírez-Ramírez S, Arturo-Terranova D, Satizábal-Soto JM
Language: Spanish
References: 13
Page: 221-226
PDF size: 332.37 Kb.
ABSTRACT
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.
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10.35366/97684