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Clinical Cases and Reviews in Epilepsy

Drug resistant epilepsy in a young male with Cat Eye Syndrome: a case study

Brief report/Clinical case, 15 - 19
doi: 10.11138/ccre/2017.2.1.015
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Abstract
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The Cat Eye Syndrome (CES) is a rare syndrome associated with gains of the pericentromeric region of chromosome 22. It is usually characterized by multiorgan and physical malformation, skeletal problems, short stature, anal atresia and moderate to severe intellectual disability.
We present a case study of a 31-year-old-male affected by tetrasomy in the q11.1q11.21 region of the chromosome 22. We also carried out clinical, neurophysiological and neuroradiological evaluations, and psychometric assessment. Moreover, the patient underwent Array-CGH, conventional cytogenetic and FISH analysis.
Clinically, we observed a pulmonary venous malformation which had been surgically treated, and several physical malformations. From a neurological point of view, we observed the following characterizing elements: intellectual disability, adaptive impairment and focal epilepsy. Seizures were characterized by loss of contact, staring, face pallor, motor stereotypies such as nose scratching, bimanual automatisms, chewing and severe asthenia. As the child grew seizures became more and more frequent (up to one/two episodes a day) and were drug resistant.
Prolonged EEG recordings captured focal seizures originating on the left temporal leads.
Magnetic resonance imaging (MRI) documented thinning of the corpus callosum, hypomyelination of the semi-oval centers, extensive and multifocal subcortical malacic areas and gliosis in the brain. Although seizure characterization is lacking in CES, in the present case, paralleling anatomic defects and intellectual disability, epilepsy emerged as a main disturbance in the clinical picture of CES.

Vol. 2 (No. 1) 2017 Janaury - December

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  1. Drug resistant epilepsy in a young male with Cat Eye Syndrome: a case study
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    doi: 10.11138/ccre/2017.2.1.015
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