De Barsy Syndrome (DBS): First Case Reported in Colombia

Sebastian Arteta, Maria Orozco, Ericka Aguilar-Britto, Wendy Guerrero, Maria Vittorino, Diana Moreno, Jorge Ordonez, Roberto Garcia-Bermejo

Abstract: De Barsy syndrome (DBS) is an infrequent autosomal recessive disease, where a relationship has been identified in ALDH18A1 and PYCR1 mutations, mainly producing cutis laxa in the affected patient. Other clinical characteristics are similar to patients with Progeria Syndrome. Diagnosis is usually difficult due to the few cases reported worldwide. In order to identify patients with DBS molecular and/or histopathological studies are necessary. There is no specific treatment in these patients, and management is done according to the associated alterations. Probably, the first case described in Colombia with DBS is described.

Keywords: Progeria - like syndrome, Cutis laxa, Intellectual disability, De Barsy Syndrome, Case report