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+This young boy is the first child of healthy non-consanguineous, white British parents.
+He was born at term following an uneventful pregnancy weighing 3132 g (9th–25th centile).
+Early development was thought to be normal.
+At approximately 6 months of age he developed tonic upward eye deviation associated with flexion of his arms and neck consistent with infantile spasms.
+An electroencephalograph (EEG) at this time was grossly abnormal (hypsarrhythmia) and strongly supported a diagnosis of West Syndrome.
+Cranial MRI was reported as normal.
+Prednisolone was prescribed and treated the seizures effectively.
+Steroids were weaned over 6 weeks and he remained seizure free for a further 6 months.
+By the age of 1 year, it was apparent that his early developmental progress was not being maintained and that he was functioning at the 6–8 month developmental stage.
+Seizures returned shortly after his first birthday and were prolonged, frequent and on occasion focal, involving his right arm, leg and right side of face.
+Clonazepam briefly improved seizure frequency, but subsequently his epilepsy has proved refractory to various combinations of anticonvulsant therapy.
+Prolonged seizures of more than 60 min have been associated with a stepwise regression in his neurodevelopment.
+Seizure semiology is now predominantly one of epilepsia partialis continua involving the right side of his face, right arm and right leg.
+The development of focal seizures and the progressive nature of the condition prompted a second cranial MRI at the age of 2 years 6 months.
+By contrast with the previous scan, this MRI revealed symmetrical subcortical white matter lesions (Fig.1A) with thinning of the anterior and genu of the corpus callosum (Fig.1B).
+On examination, the patient had small, round, anteriorly rotated ears and a broad nasal root.
+He demonstrated no visual awareness but startled to loud noise.
+Tone was increased in all 4 limbs with internal rotation of both legs at the hips.
+Reflexes were pathologically brisk.
+Brief myoclonic jerks were evident throughout the examination.