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
ABSTRACT
Hypomelanosis of Ito (HI) is a rare neurocutaneous syndrome with characteristic whirled hypopigmented skin lesions and neurological manifestations. Less consistently, there may be non-neurological manifestations that include ophthalmic, musculoskeletal, craniofacial, cardiac, genitourinary, and gastrointestinal involvements. We report a case of HI, with typical skin lesions in association with hemimegalencephaly, seizures and mental retardation along with the hitherto unreported repetitive hand movements such as seen in Rett syndrome.