De Barsy syndrome due to ALDH18A1 mutation – Expanding the spectrum of a rare neurocutaneous syndrome

Abstract

De Barsy syndrome is a rare autosomal recessive genetic disorder that manifests with cutis laxa, progeroid appearance, and neurologic and eye abnormalities. It was initially described by De Barsy et al. in 1968. Mutations in the ALDH18A1 gene or PYCR1 genes have been implicated in this syndrome. ALDH18A1 mutations are associated with cutis laxa type IIIA and hereditary spastic paraplegia 9A. We describe an 8-month-old male with cutis laxa, developmental delay and seizures harbouring the ALDH18A1 mutation. Our patient has certain phenotypic manifestations and radiologic findings that make it unique from the other cases described till date.