Galactosemia and phantom absence seizures

Aydin-Ozemir Z., Tekturk P., UYGUNER Z. O., BAYKAL B.

JOURNAL OF PEDIATRIC NEUROSCIENCES, cilt.9, sa.3, ss.253-256, 2014 (ESCI) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 9 Sayı: 3
  • Basım Tarihi: 2014
  • Doi Numarası: 10.4103/1817-1745.147581
  • Dergi Adı: JOURNAL OF PEDIATRIC NEUROSCIENCES
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus
  • Sayfa Sayıları: ss.253-256
  • Anahtar Kelimeler: absence seizures, galactose-1-phosphate uridyl transferase enzyme deficiency, galactosemia
  • İstanbul Üniversitesi Adresli: Evet

Özet

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.