MICROCEPHALY AND EPILEPSY

Abstract
Epilepsy was reported to occur in 33.3% to 35.7% in primary microcephaly (PMC) and 40 to 50% in secondary microcephaly (SMC). To evaluate seizures frequency and type in Egyptian patients with microcephaly (MC). One hundred and ten cases (61 males and 49 females) with microcephaly were examined at the Department of Human Genetics, National Research Centre, Cairo, Egypt. Seizures occurred in 32.6% in PMC versus 66.7% in SMC. It occurred with slight higher prevalence in males. Generalised tonic clonic seizure was by far the most common type of seizures among our cases. Correlation between severity of epilepsy and IQ and head circumference was established. Generally, mental retardation (MR) was found in 84.5%, within these cases, 18.3% had profound MR. Meanwhile, no correlation was observed between the head circumference at time of assessment and the IQ (p = 0.12), results showed inverse significant correlation between the severity of epilepsy and the IQ. In addition, there was a significant difference in the mean of IQ of those epileptic patients controlled on medication and those not controlled on antiepileptic drugs (p < 0.01). Since the majority of cases with uncontrolled seizures had brain developmental disorders. It seems that not only the epilepsy has a role in lower mental state of the microcephalic patients but also the type of brain malformation present. Valporates was the most common antiepileptic drug used either in monotherapy or polytherapy. CT and /or MRI showed different imaging abnormalities in 58 cases (52.7%). Consanguinity rate was 74.5% and 28 cases (25.5%) had similarly affected member in the family emphasising the role of the autosomal recessive gene among these cases. We modified the morphological classification of Abdel-Salam et al 2000¹ and cases were classified according to the modified morphological classification and etiologically. This newly suggested classification comprises all the described forms of microcephaly and it highlights the prevalence of epilepsy, MR and hence the genetic counselling of each group.

Key words
Epilepsy, microcephaly, classification, consanguinity, mental retardation, brain malformation.

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