Neuropediatrics 2006; 37 - MP97
DOI: 10.1055/s-2006-943694

SECKEL SYNDROME AND EPILEPSY

R Teleanu 1, D Plesca 1, A Lazar 1, M Moiceanu 1, F Buruiana 1, D Dragomir 1
  • 1University of Medicine Carol Davila Bucharest, Bucharest, Romania

Objectives: Seckel syndrome is a very rare autosomal recessive disorder characterized by growth retardation, severe microcephaly with a bird-headed like appearance and mental retardation. Methods: We present 3 patients diagnosed with Seckel syndrome.

Results: All patients had severe microcephaly, epileptic seizures, mental retadation and CT scan revealed in all patients a pachygyric cortex.

Conclusion: Seckel syndrome is a rare genetically disorder. In some cases, very anusual, children present epileptic seizure. Mental retardation is usually severe and families should be helped for social problems. According to the literature we reviewed, this is the first report of epilepsy in Seckel syndrome.