Trisomy 8 mosaicism and favorable outcome after treatment of infantile spasms: case report.
Constitutional mosaic trisomy 8 syndrome occurs in approximately 1 of 35 000 live births. Clinically, it has a variable presentation. Some patients are asymptomatic, while others have multisystemic involvement. The overall incidence of neurological abnormalities has not been reported, but seizures are among the neurological symptoms associated with this condition. Previous reports describe astatic seizures, complex partial seizures, generalized tonic-clonic seizures, and absence seizures with the age of onset varying from 3 months to early childhood. However, instances of infantile spasms and the patients' response to treatment have not been reported to our knowledge. Accordingly, we report a case of a patient with constitutional mosaic trisomy 8 syndrome and infantile spasms, who became seizure free after treatment with adrencorticotropic hormone and clonazepam.
Datta
Anita
A
Division of Epilepsy, Department of Neurology, Children's Hospital Boston, Boston, Massachusetts, USA.
Picker
Jonathan
J
Rotenberg
Alexander
A
D000328:Adult; D002648:Child; D002898:Chromosomes, Human, Pair 8 / Q000187:drug effects / Q000235:genetics; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D009030:Mosaicism / Q000187:drug effects; D013036:Spasms, Infantile / Q000188:drug therapy / Q000235:genetics*; D014314:Trisomy / Q000235:genetics; D024182:Uniparental Disomy / Q000187:drug effects / Q000235:genetics