Neurológia pre prax 5/2017
In the shadow of cerebral palsy: a case of ADCY5 related dyskinesias
We report a case of 39 years old woman diagnosed with dyskinetic cerebral palsy and perinatal hypoxic encephalopathy. Two years after a complicated delivery, paroxysmal choreatic limb movements, which became generalized and persistent later on, gradually developed. After many years, a mutation in ADCY5 gene was identified through whole exome sequencing, which is probably the first reported case of ADCY5 related dyskinesias in Slovakia. We present a case report of the patient and a brief summary of the essential facts about this recently described condition.
Keywords: ADCY5, cerebral palsy, paroxysmal dyskinesias, case report
