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Galactosemia and phantom absence seizures.

Aydin-Özemir Z, Tektürk P, Uyguner ZO, Baykan B - J Pediatr Neurosci (2014 Sep-Dec)

Bottom Line: 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.

View Article: PubMed Central - PubMed

Affiliation: Department of Neurology and Clinical Neurophysiology, Faculty of Medicine, Istanbul University, Istanbul, Turkey ; Department of Neurology, Memorial Ataşehir Hospital, 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.

No MeSH data available.


Related in: MedlinePlus

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
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Figure 2: 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

Mentions: Interictal regular, generalized 3-4 Hz spike-wave discharges were identified in the routine electroencephalography examination [Figure 1a]. On these findings, a long-term video electroencephalogram was performed, and 3.5-4 Hz spikes and slow wave discharges lasting 4-5 s with high amplitude and anterior predominance were observed [Figure 1b]. The patient could not direct his attention during the discharges although he did not lose communication completely. He was started on 200 mg/day of valproic acid since he was thought to have phantom absence seizures. His family reported that his condition improved with the treatment. Afterwards, the patient had his first generalized tonic-clonic seizure at the age of 9.5 years, and the dosage of the drug treatment was increased according to the measured drug level.


Galactosemia and phantom absence seizures.

Aydin-Özemir Z, Tektürk P, Uyguner ZO, Baykan B - J Pediatr Neurosci (2014 Sep-Dec)

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
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4302547&req=5

Figure 2: 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
Mentions: Interictal regular, generalized 3-4 Hz spike-wave discharges were identified in the routine electroencephalography examination [Figure 1a]. On these findings, a long-term video electroencephalogram was performed, and 3.5-4 Hz spikes and slow wave discharges lasting 4-5 s with high amplitude and anterior predominance were observed [Figure 1b]. The patient could not direct his attention during the discharges although he did not lose communication completely. He was started on 200 mg/day of valproic acid since he was thought to have phantom absence seizures. His family reported that his condition improved with the treatment. Afterwards, the patient had his first generalized tonic-clonic seizure at the age of 9.5 years, and the dosage of the drug treatment was increased according to the measured drug level.

Bottom Line: 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.

View Article: PubMed Central - PubMed

Affiliation: Department of Neurology and Clinical Neurophysiology, Faculty of Medicine, Istanbul University, Istanbul, Turkey ; Department of Neurology, Memorial Ataşehir Hospital, 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.

No MeSH data available.


Related in: MedlinePlus