A unique case of Ito syndrome presenting with Juvenile Myoclonic Epilepsy and normal intelligence

ABSTRACT

Background: Hypomelanosis of Ito is a neurocutaineous disease commonly associated with seizure and mental retardation. Case description In this case report, we have found a unique coexistence of Hypomelanosis of Ito and Juvenile Myoclonic Epilepsy with normal intelligence. Discussion: The occurances of two genetically linked disease entities in a single individual arouse a possibility of some common genetic factors. Conclusion: The Juvenile myoclonic Epilepsy with normal intelligence can be a presenting feature in Hypomelanosis of ito. Key message In contrary to common perception Hypomelanosis of ito can present with normal intelligence and the seizure type can be Juvenile myoclonic epilepsy as found in this case