Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
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.

PubMed Disclaimer

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

References

    1. Bosch AM. Classical galactosaemia revisited. J Inherit Metab Dis. 2006;29:516–25. - PubMed
    1. Ridel KR, Leslie ND, Gilbert DL. An updated review of the long-term neurological effects of galactosemia. Pediatr Neurol. 2005;33:153–61. - PubMed
    1. Suzuki M, West C, Beutler E. Large-scale molecular screening for galactosemia alleles in a pan-ethnic population. Hum Genet. 2001;109:210–5. - PubMed
    1. Friedman JH, Levy HL, Boustany RM. Late onset of distinct neurologic syndromes in galactosemic siblings. Neurology. 1989;39:741–2. - PubMed
    1. Holtan JB, Walter JH, Tyfield LA. Galactosemia. In: Scriver CR, Beaudet AL, Sly WS, Vale D, editors. The Metabolic and Molecular Bases of Inherited Disease. 8th ed. Vol. 1. New York: The McGraw-Hill Companies; 2001. pp. 1562–74.

Publication types