DOORS syndrome: Differential Diagnosis in Epileptic Syndromes with Nail Dysplasia

Abstract

Introduction: DOORS syndrome is a rare genetic disease, affecting 1 patient in 1.000.000, with multisystemic involvement whose first clinical manifestations usually are present at birth and can be easily identified in the newborn physical examination. Objective: To report a Brazilian patient with features of DOORS syndrome whose genetic molecular testing has not shown TBC1D24 gene mutations, widening the genetic heterogeneity in such disease. Case description: Female case, 1 year 7 months, presenting with gingival hypertrophy, seizures, onicodystrophy, developmental delay, right sixth cranial nerve palsy referred for genetic investigation. Conventional karyotype, chromosome array and whole exome sequencing were unremarkable; TBC1D24 gene sequencing did not show abnormal findings. Discussion: “DOORS” syndrome is a congenital disorder involving multiple abnormalities: deafness; onychodystrophy; osteodystrophy; intellectual disability and seizures. TBC1D24 mutations can be found in about half of the patients with typical clinical features of the disease. Absence of mutations in this gene in our case suggests that other genes may be responsible for DOORS phenotype.