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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

Cranial magnetic resonance imaging demonstrated subcortical hyperintense signal changes throughout the cerebral hemispheres on both sides
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Figure 3: Cranial magnetic resonance imaging demonstrated subcortical hyperintense signal changes throughout the cerebral hemispheres on both sides

Mentions: Hyperintense signal changes were identified in the subcortical white matter of the bilateral cerebral hemispheres in the cranial magnetic resonance imaging, when the patient was 13-year old [Figure 2]. On valproic acid treatment, the patient experienced one generalized tonic-clonic seizure yearly, during the 9 years of follow-up. The frequency of absence seizures (focusing at one point with no answer to calling and awakening with shaking off) decreased gradually and currently occurs at a rate of one every 2-3 months. His last treatment regimen consists of 1000 mg/day valproic acid and 1.5 mg/day risperidone for agitation. His last recorded height was 1.85 m and weight was 52 kg. Generalized spike-wave discharges continued at his last control electroencephalogram without any clear accompanying clinical findings.


Galactosemia and phantom absence seizures.

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

Cranial magnetic resonance imaging demonstrated subcortical hyperintense signal changes throughout the cerebral hemispheres on both sides
© Copyright Policy - open-access
Related In: Results  -  Collection

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

Figure 3: Cranial magnetic resonance imaging demonstrated subcortical hyperintense signal changes throughout the cerebral hemispheres on both sides
Mentions: Hyperintense signal changes were identified in the subcortical white matter of the bilateral cerebral hemispheres in the cranial magnetic resonance imaging, when the patient was 13-year old [Figure 2]. On valproic acid treatment, the patient experienced one generalized tonic-clonic seizure yearly, during the 9 years of follow-up. The frequency of absence seizures (focusing at one point with no answer to calling and awakening with shaking off) decreased gradually and currently occurs at a rate of one every 2-3 months. His last treatment regimen consists of 1000 mg/day valproic acid and 1.5 mg/day risperidone for agitation. His last recorded height was 1.85 m and weight was 52 kg. Generalized spike-wave discharges continued at his last control electroencephalogram without any clear accompanying clinical findings.

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