Epilepsy surgery for refractory epilepsy due to encephalocele: a case report and review of the literature.

The management of medically intractable epilepsy is frequently assisted by the identification of structural abnormalities made possible by modern imaging techniques. The association between meningoencephaloceles and epileptic seizures is well reported in the literature. We report a patient with refractory right frontal lobe epilepsy caused by a right nasal meningoencephalocele who was rendered seizure free by endoscopic nasal excision and skull base repair, obviating the need for resective epilepsy surgery.

Cerebral palsy in siblings caused by compound heterozygous mutations in the gene encoding protein C.

We report two sisters with extensive bilateral periventricular haemorrhagic infarction (PVHI) causing cerebral palsy (CP). The older sister presented at 20 months with cortical visual blindness, spastic diplegia, and purpura fulminans. The younger sister presented aged 3 days old with apnoeas and multifocal seizures.

Three sisters with Chiari I malformation with and without associated syringomyelia.

Two daughters of non-consanguineous Ashkenazi Jewish parentage presented with occipital headaches in the second decade of life. Each had a symptomatic Chiari I malformation (CMI) and a large cervicothoracic syrinx. A third sister was diagnosed as having CMI without syrinx after MR screening of first-degree relatives.