The Turkish Journal of Pediatrics 2022 , Vol 64 , Num 4
A rare case of hypomyelinating leukodystrophy-14 benefiting from ketogenic diet therapy
Aycan Ünalp 1 ,Melis Köse 2 ,Pakize Karaoğlu 3 ,Yiğithan Güzin 3 ,Ünsal Yılmaz 1
1 Department of Pediatrics, Division of Pediatric Neurology, University of Health Sciences Turkey, İzmir Faculty of Medicine, İzmir, Turkey
2 Department of Pediatrics, Division of Inborn Errors of Metabolism, Katip Çelebi University Medical Faculty, İzmir, Turkey
3 Department of Pediatrics, Division of Pediatric Neurology, University of Health Sciences, Dr. Behçet Uz Childrens Education and Research Hospital, İzmir, Turkey
DOI : 10.24953/turkjped.2021.1662 Background. Hypomyelinating leukodystrophy-14 (HLD14) is a rarely seen neurodevelopmental disease caused by homozygous pathogenic ubiquitin-fold modifier 1 gene variants. The disease has an autosomal recessive inheritance. All patients with this condition reported to date have drug-resistant epilepsy. The posttranslational modification of proteins with ubiquitin fold modifier 1 is defective in these patients and is thought to be responsible for severe neurodevelopmental problems. There is no previous report on the effectiveness of the ketogenic diet in the treatment of drug-resistant epileptic seizures in this disease. Therefore, we present a pediatric case diagnosed with HLD14 and whose drug-resistant epileptic seizures were controlled by ketogenic diet therapy.

Case. The patient was a three-year-old male with drug-resistant epilepsy and developmental delay. His brain magnetic resonance imaging revealed cerebellar atrophy, periventricular white matter hypomyelination, and ventricular enlargement. Whole-exome sequencing analysis identified a homozygous pathogenic variant in the ubiquitin-fold modifier 1 gene on chromosome 13q13. Ketogenic diet therapy was initiated for his drug-resistant seizures and subsequently reduced seizure frequency by more than 75%. The patient is still on ketogenic diet therapy.

Conclusions. Ketogenic diet therapy may be beneficial for seizure control in HLD14 patients with drug-resistant seizures. Keywords : drug-resistant epilepsy, hypomyelinating leukodystrophy-14, ketogenic diet therapy, children

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