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Ann Saudi MedAnn Saudi MedAnnals of Saudi Medicine0256-49470975-4466King Faisal Specialist Hospital and Research Centre 1839827010.5144/0256-4947.2008.138asm-2-138What's Your Diagnosis?An 18-month-old girl with a history of convulsions and a facial nevus Incecik Faruk Hergüner M. Ozlem Ozcan Kenan Altunbasak Sakir From the Department of Pediatric Neurology, Çukurova University Medical Faculty, Adana, TurkeyCorrespondence and reprints: Faruk Incecik, MD, Department of Pediatric Neurology, Çukurova University Medical Faculty, Balcah, Adana, 01330, Turkey, T: +90-322-338-6936, F: +90-322-338-6936, fincecik@yahoo.comMar-Apr 2008 28 2 138 138 01 5 2007 Copyright © 2008, Annals of Saudi Medicine2008This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.
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A 18-month-old girl was brought to our clinic with the complaint of convulsion. Her family stated that she had started to have short-lasting jerky movements localized to the left arm since 2 months previously and they had recently spread over the whole body. She was not taking any medicine for seizures. Her parents were second-degree relatives. Her birth was uncomplicated but her psychmotor milestones were significantly delayed.

On physical examination, the pupils were equal and reactive and there was no evidence of glaucoma or buphthalmus. In the neurological examination, she was conscious but mentally retarded. She had no motor deficits. The rest of the examination was unremarkable.

Interictal EEG revealed moderate-to-severe irregularities in background activities, especially in the anterior right hemisphere. A CT of the brain is shown in Figure 3.

What abnormalities are seen in Figure 1?

What abnormalities are seen in Figure 2?

What abnormalities are seen in Figure 3?

What is the diagnosis?

Answers on page 150

Figure 1 Facial nevus.

Figure 2 Megalocornea in the left eye.

Figure 3 Cerebral CT showing abnormalities.