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J Pediatr Neurosci. 2014 Sep-Dec;9(3):253-6. doi: 10.4103/1817-1745.147581.

Galactosemia and phantom absence seizures.

Author information

1
Department of Neurology and Clinical Neurophysiology, Faculty of Medicine, Istanbul University, Istanbul, Turkey ; Department of Neurology, Memorial Ataşehir Hospital, Istanbul, Turkey.
2
Department of Child Neurology, Faculty of Medicine, Istanbul University, Istanbul, Turkey.
3
Department of Medical Genetics, Faculty of Medicine, Istanbul University, Istanbul, Turkey.
4
Department of Neurology and Clinical Neurophysiology, Faculty of Medicine, Istanbul University, Istanbul, Turkey.

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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