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.
Battaglia, D. I., Gurrieri, F., Pane, M., Donvito, V., Cesarini, L., Acquafondata, C., Lettori, D., Veredice, C., Russo, L., Neri, G., Guzzetta, F., Inv dup 15 syndrome: Case report with epilepsy onset in the first year, <<BOLLETTINO-LEGA ITALIANA CONTRO L'EPILESSIA>>, 2002; 2002 (118): 65-67 [https://hdl.handle.net/10807/260329]
Inv dup 15 syndrome: Case report with epilepsy onset in the first year
Battaglia, Domenica Immacolata;Gurrieri, Fiorella;Pane, Marika;Acquafondata, Celeste;Lettori, Donatella;Veredice, Chiara;
2002
Abstract
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.
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