Inv dup 15 syndrome: Case report with epilepsy onset in the first year

Inverted duplicated chromosome 15 (inv dup 15) syndrome is a genetic disorder characterized by facial dysmorphisms, psychomotor retardation, pervasive developmental disorder and neurological signs such as hypotonia and epilepsy. We describe a case of infantile spasms and myoclonia associated with invdup 15. In the literature only four cases of inv dup15 with early onset spasms was described. We suggest that a karyotype must be obtained in patients with unexplained infantile spasms, specially if associated to hypotonia and minor dysmorphic signs.