Abstracts

Rationale: Hemimegalencephaly is a rare serious dysplastic neuronal migration disorder characterized by overgrowth of part or all of one cerebral hemisphere. Patients manifest psychomotor retardation, hemiparesis, hemianopsia and epileptic seizures which are often resistant to medical treatment. HME can occur alone or associated with neurocutaneous disorders, such as neurofibromatosis, epidermal nevus syndrome, Ito s hypomelanosis, Klippel-Trenaunay-Weber syndrome, Focal alopecia. Methods: We present the clinical features, pathology and surgical outcome of 20 patients with HME. 13 patients were male and 7 female. 12 had L HME and 8 of the patients had R HME. The patients had isolated HME with no associated underlying etiology. 3 patients had epidermal navus, 1 had Goldenhar syndrome, one patient had focal alopecia and neurofibromatosis. 16 of the patients had their first seizures within first year of life. Only 4 patients had their seizures after first year of life. Earlier presentations usually associated with severe, frequent seizures and dev delay. All 10 patients continue to have intractable epilepsy in spite 3 and 4 anticonvulsant. 1 patient had controlled seizures on anticonvulsant. 18 patients with HME had functional hemispherectomy. 13 patients become seizure free after surgery. 2 patients had 80-90% reduction in seizures frequency. 1 had lost to follow up. 1 died at 8 months. 1 patient had no change in seizure frequency. All 15 patients who became seizure free or had reduction in seizure frequency with functional hemispherectomy. 19 out of 20 of our patients were intractable to all medical treatments. Functional hemispherectomy lead to seizures. Remission and all anticonvulsant was DIC in 13 out of 20 patients with seizures reduction in another 2 patients. Patients who had complete recovery of the seizures or had seizure reduction had improvement in psychomotor development. Clinical features from the 20 patients 13 had their seizures at first few days of life. 10 of the patients had their seizures within first year of life. Only 4 had their seizures after first year of life. Earlier presentation is usually associated with more severe frequent seizures and moderate to severe dev delay. 13 male 7 female 15 of the patients had HME plus no associated pathology 3 + epidermal nevus 1 + neurofibromatosis 1+ Goldenhar syndrome 12 had L HME 8 had R HME Results: 18 patients had surgery one seizures under control, one going through evaluation. 18 patients had surgery 2 became seizure free 2 had improvement 80-90% reduction 1 had no follow-up 1 had no change in seizure frequency or cognitive 1 died Conclusions: HME is not so rare in Saudi Arabia. Our HME patients commonly have isolated. HME can be associated with variety of conditions. The most common one is epidermal nevus. This first case of Goldenhar syndrome associated with HME. In our patient s earlier presentation less than 1 year of age associated with more severe condition. Surgical treatment with functional hemimegalencephaly have a high percentage of seizure remission and improvement in motor and cognitive function.