[A case of inv dup (15) mosaic with mental retardation and symptomatic generalized epilepsy].
We report a case of inv dup (15) mosaic with moderate mental retardation and symptomatic generalized epilepsy whose attacks were successfully controlled by phenytoin. Battaglia et al. (1997) reported four cases of inv dup (15) syndrome, whose symptoms contained intractable Lennox-Gastaut syndrome, moderate or severe mental retardation, diffuse hypotonia, and minor anomaly. The present case was diagnosed as mosaicism of inv dup (15) syndrome. It was suspected that the patient had a treatable epileptic seizure and no minor anomaly because of the mosaicism.
Kobayashi
Y
Y
Department of Behavioral Science, National Defense Medical College Research Institute, Tokorozawa, Japan.
Yoshino
A
A
D000328:Adult; D000927:Anticonvulsants / Q000627:therapeutic use*; D002884:Chromosomes, Human, Pair 15; D004829:Epilepsy, Generalized / Q000188:drug therapy / Q000235:genetics*; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D009030:Mosaicism; D010672:Phenytoin / Q000627:therapeutic use*
D000927:Anticonvulsants; D010672:Phenytoin