Hypomelanosis Ito and hemimegalencephaly

Aims: The disorder of Hypomelanosis Ito is characterized by unilateral or bilateral macular hypopigmented whorls, streaks, and patches. Neurologic impairment can be quite severe with hemimegalencephaly and/or migration disorders. Affected children often suffer from difficult to treat drug-resistant epilepsy.

We report a boy with drug-resistant epilepsy due to Hemimegalencephaly associated with Hypomelanosis Ito who became seizure free after functional hemisherectomy done in october 2011.

Methods: Case report

Results: We report on a 4 year old Serbian boy who was referred to our clinic because of a drug resistant epilepsy since the age of 2 months. Additionally he suffered from a mild right sided hemiparesis. Because of a streaky hypopigmentation in the area of the left shoulder and arm the diagnosis of Hypomelanosis Ito was made. The MRI revealed a left-sided hemimegalencephaly with lack of any potentially epileptogenic lesions in the right hemisphere. The ictual as well as the interictual EEG pointed towards a left hemispheric seizure origin. We therefore suggested a functional hemispherectomy of the left hemisphere which was performed in october 2011. Postoperatively the boy is seizure free and the anticonvulsant therapy is slowly reduced.

Fig.1

Conclusion: Epilepsy surgery is a therapeutical option in drug-resistant epilepsy due to hemimegalencephaly associated with Hypomelanosis Ito.

Hemimegalencephaly - Hypomelanosis Ito - Epilepsy Surgery