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Journals
Balkan Journal of Medical Genetics
Volume 26 (2023): Issue 2 (December 2023)
Open Access
Experience with the Ketogenic Diet in a Boy with
CLCN4
Related Neurodevelopmental Disorder
G Sager
G Sager
,
U Yukselmis
U Yukselmis
,
O Güzel
O Güzel
,
A Turkyilmaz
A Turkyilmaz
and
M Akcay
M Akcay
| Mar 12, 2024
Balkan Journal of Medical Genetics
Volume 26 (2023): Issue 2 (December 2023)
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Article Category:
Case Report
Published Online:
Mar 12, 2024
Page range:
77 - 82
DOI:
https://doi.org/10.2478/bjmg-2023-0013
Keywords
ClC-4
,
epilepsy
,
lennox gastaut
,
ketogenic diet
,
Raynaud-Claes
© 2023 G Sager et al., published by Sciendo
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.
Figure 1.
a) Top EEG shows atypical absence status epilepticus with ictal generalized spike-and-wave discharges with a frequency of 3 Hz. b) Middle EEG shows ictal generalized paroxysmal fast activity accompanied by an intense tonic contraction induced by benzodiazepine infusion c) Last EEG shows, slow background activity superimposed with fast rhythms caused by phenobarbital use without ictal or inter-ictal discharges. Patient was on the 8 months of his ketogenic diet.
Figure 2.
Axiel T2 and Coronal T2 flair Cranial MRI images of the patient showed a thin corpus callosum, ventriculomegaly, and white matter atrophy.