Cockayne’s syndrome: report of two cases <br><b>[Abstract in English]</b>

e-ISSN: 1980-6108
ISSN-L: 1806-5562

Catarina Teixeira Resende; Susana Loureiro; Elisa Cardoso; Sofia Fonseca; Joaquim Sá; Fátima Simões

Authors

Catarina Teixeira Resende Centro Hospitalar Tondela-Viseu
Susana Loureiro Centro Hospitalar Tondela-Viseu
Elisa Cardoso Centro Hospitalar Tondela-Viseu
Sofia Fonseca Centro Hospitalar Tondela-Viseu
Joaquim Sá Hospital Pediátrico de Coimbra
Fátima Simões Centro Hospitalar Tondela-Viseu

Keywords:

Cockayne Syndrome, Genetic Testing, Developmental Disabilities, Dwarfism, Facies.

Abstract

AIMS: To report cases of Cockayne syndrome in two siblings, describing the clinical presentation and evolution. CASE DESCRIPTION: We describe the cases of two siblings, an 8 years old girl and a 13 years old boy, both with global developmental disability, microcephaly, dwarfism and peculiar facies (triangular face, microphthalmia, microstomia and micrognathia). New problems emerged during follow-up: sensorineural hearing loss, hypermetropia and photosensitivity. Clinical features suggested Cockayne syndrome, which was confirmed by molecular genetic testing. CONCLUSIONS: Cockayne’s syndrome is a rare (1/100,000), recessive autosomal disorder. Its diagnosis may be delayed because the signs and symptoms arise gradually and slowly. Obtaining the diagnostic criteria can take years and clinical suspicion is extremely important.