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Case Reports
. 2014 Sep-Dec;9(3):253-6.
doi: 10.4103/1817-1745.147581.

Galactosemia and phantom absence seizures

Zeynep Aydin-Özemir  1 , Pınar Tektürk  2 , Zehra Oya Uyguner  3 , Betül Baykan  4
Affiliations
Case Reports

Galactosemia and phantom absence seizures

Zeynep Aydin-Özemir et al. J Pediatr Neurosci. 2014 Sep-Dec.

Abstract

Generalized and focal seizures can rarely be seen in galactosemia patients, but absence seizures were not reported previously. An 18-year-old male was diagnosed as galactosemia at the age of 8 months. No family history of epilepsy was present. His absence seizures realized at the age of 9 years. Generalized 3-4 Hz spike-wave discharges were identified in his electroencephalography. Homozygous mutation at exon 6 c. 563A > G was identified. The electroencephalogram of his sibling was unremarkable. Our aim was to present the long-term follow-up of a patient diagnosed with galactosemia, who had phantom absence seizures and typical 3-4 Hz spike-wave discharges in his electroencephalogram to draw attention to this rare association.

Keywords: absence seizures; galactose-1-phosphate uridyl transferase enzyme deficiency; galactosemia.

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Conflict of interest statement

Conflict of Interest: Zeynep Aydin-Özemir, MD and other co-authors declare no conflict of interest.

Figures

Figure 1a
Figure 1a
The electroencephalogram at the age of 9 years showed 3-4 Hz regular spike and wave discharges lasting 1-3 s
Figure 1b
Figure 1b
Video electroencephalogram examination disclosed 3.5-4 Hz spikes and slow wave discharges lasting 4-5 s with high amplitude and anterior predominance. During these discharges, the patient could look to the examiner but could not answer appropriately
Figure 2
Figure 2
Cranial magnetic resonance imaging demonstrated subcortical hyperintense signal changes throughout the cerebral hemispheres on both sides
See this image and copyright information in PMC

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