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2017 Case 3

Case 3

Mari Perez-Rosendahl1, Juan Pablo Villablanca2, Noriko Salamon2, Aria Fallah3 and Harry Vinters1

1Departments of Pathology and Laboratory Medicine (Division of Neuropathology), 2Radiology, and 3Neurosurgery, David Geffen School of Medicine, University of California at Los Angeles

Clinical Summary:

The patient is a 10-year-old female with a history of medically refractory epilepsy, global developmental delay, autism spectrum disorder and partial optic atrophy. She was born full term without complications. Seizures began at 3 months of age, characterized by daily infantile spasms and tonic-clonic seizures. At the age of 6, a vagal nerve stimulator was placed, which provided minimal benefit.

MR imaging of the brain showed focal areas of cortical thickening with associated FLAIR hyperintensity, suggestive of cortical dysplasia involving the left anterior insula, left inferior frontal lobe gyrus and left parasagittal frontal cortex. Hypoplasia of the rostrum of the corpus callosum was also seen. The right cerebral hemisphere was normal in appearance. Slight lateralization to the left cerebral hemisphere was suggested by electroencephalogram, but localization was poor. MRI/PET showed right temporal hypometabolism and normal left frontal metabolism. Given the more conspicuous MR imaging abnormalities on the left, a partial left frontal lobectomy was performed.

Following lobectomy, the frequency of epileptic spasms and tonic-clonic seizures diminished. She continued to have nocturnal clonic seizures, but these were less frequent and severe than prior to partial lobectomy.

Material Submitted:

One representative H&E stained section, scanned

Questions:

Diagnosis?

What syndrome is reported to be associated with this condition?