Multiple cerebral cavernous haemangiomas in an infant
A 20-month-old male infant presented with two episodes of focal seizures, each lasting 4 minutes and consisting of staring, lip and teeth clenching, and eye deviation to one side followed by stiffening and jerking of all four limbs. He had an antenatal ultrasound finding of an intracranial cyst. The pregnancy was otherwise uneventful and delivery and early development were normal. He had a past history of two febrile convulsions associated with upper respiratory tract infections. Electroencephalography showed normal background rhythms visible at times but the recording was dominated by runs of high-amplitude rhythmic sharpened slow waves most prominent in the right lateral leads and bi-frontally. Magnetic resonance imaging (MRI) [] showed a right frontal cavernous haemangioma with typical, popcorn-like, smoothly circumscribed, well- delineated complex lesion features. The core is formed by multiple foci of mixed signal intensities representing haemorrhage in various stages of evolution. His seizures were refractory to initial management with carbamazepine and the angioma was resected. He continued to have seizures following resection. Repeat MRI brain at age 4 years showed a new cavernous angioma []. Genetic analysis showed a c.845 + 1 G > C heterozygous transversion mutation of the Krev interaction trapped 1 (KRIT 1) gene.