Abstract
A 5-year-old girl with Goldberg-Shprintzen syndrome and an abnormal CT scan suggesting neuronal migration defect or brain dysgenesis is reported from the Departments of Pediatrics, Asahikawa Habilitation Center, and Kitami Red Cross Hospital, Japan.
Highlights
Chromosome analysis may be indicated in a child with drug refractory idiopathic epilepsy and learning disabilities, despite the absence of dysmorphic features or other congenital anomalies
Ring chromosome 20 syndrome is characterized by progressive cognitive impairments, behavior disorders and epilepsy resistant to conventional medications
A 5-year-old girl with Goldberg-Shprintzen syndrome and an abnormal CT scan suggesting neuronal migration defect or brain dysgenesis is reported from the Departments of Pediatrics, Asahikawa Habilitation Center, and Kitami Red Cross Hospital, Japan
Summary
Chromosome analysis may be indicated in a child with drug refractory idiopathic epilepsy and learning disabilities, despite the absence of dysmorphic features or other congenital anomalies. Ring chromosome 20 syndrome is characterized by progressive cognitive impairments, behavior disorders and epilepsy resistant to conventional medications. Trials of newer antiepileptic medications with specificity against partial seizures (eg gabapentin) should provide more complete seizure control.
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