A rare case of hypomyelinating leukodystrophy-14 benefiting from ketogenic diet therapy
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...
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Hacettepe University Institute of Child Health
2022-08-01
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| Series: | The Turkish Journal of Pediatrics |
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| Online Access: | https://turkjpediatr.org/article/view/205 |
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| author | Aycan Ünalp Melis Köse Pakize Karaoğlu Yiğithan Güzin Ünsal Yılmaz |
| author_facet | Aycan Ünalp Melis Köse Pakize Karaoğlu Yiğithan Güzin Ünsal Yılmaz |
| author_sort | Aycan Ünalp |
| collection | DOAJ |
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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.
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| format | Article |
| id | doaj-art-e934819812f749f0a0d8a2be50aef773 |
| institution | DOAJ |
| issn | 0041-4301 2791-6421 |
| language | English |
| publishDate | 2022-08-01 |
| publisher | Hacettepe University Institute of Child Health |
| record_format | Article |
| series | The Turkish Journal of Pediatrics |
| spelling | doaj-art-e934819812f749f0a0d8a2be50aef7732025-08-20T03:00:51ZengHacettepe University Institute of Child HealthThe Turkish Journal of Pediatrics0041-43012791-64212022-08-0164410.24953/turkjped.2021.1662A rare case of hypomyelinating leukodystrophy-14 benefiting from ketogenic diet therapyAycan Ünalp0Melis Köse1Pakize Karaoğlu2Yiğithan Güzin3Ünsal Yılmaz4Department of Pediatrics, Division of Pediatric Neurology, University of Health Sciences Turkey, İzmir Faculty of Medicine, İzmir, Turkey.Department of Pediatrics, Division of Inborn Errors of Metabolism, Katip Çelebi University Medical Faculty, İzmir, Turkey.Department of Pediatrics, Division of Pediatric Neurology, University of Health Sciences, Dr. Behçet Uz Childrens Education and Research Hospital, İzmir, Turkey.Department of Pediatrics, Division of Pediatric Neurology, University of Health Sciences, Dr. Behçet Uz Childrens Education and Research Hospital, İzmir, Turkey.Department of Pediatrics, Division of Pediatric Neurology, University of Health Sciences Turkey, İzmir Faculty of Medicine, İzmir, Turkey. 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. https://turkjpediatr.org/article/view/205childrendrug-resistant epilepsyhypomyelinating leukodystrophy-14ketogenic diet therapy |
| spellingShingle | Aycan Ünalp Melis Köse Pakize Karaoğlu Yiğithan Güzin Ünsal Yılmaz A rare case of hypomyelinating leukodystrophy-14 benefiting from ketogenic diet therapy The Turkish Journal of Pediatrics children drug-resistant epilepsy hypomyelinating leukodystrophy-14 ketogenic diet therapy |
| title | A rare case of hypomyelinating leukodystrophy-14 benefiting from ketogenic diet therapy |
| title_full | A rare case of hypomyelinating leukodystrophy-14 benefiting from ketogenic diet therapy |
| title_fullStr | A rare case of hypomyelinating leukodystrophy-14 benefiting from ketogenic diet therapy |
| title_full_unstemmed | A rare case of hypomyelinating leukodystrophy-14 benefiting from ketogenic diet therapy |
| title_short | A rare case of hypomyelinating leukodystrophy-14 benefiting from ketogenic diet therapy |
| title_sort | rare case of hypomyelinating leukodystrophy 14 benefiting from ketogenic diet therapy |
| topic | children drug-resistant epilepsy hypomyelinating leukodystrophy-14 ketogenic diet therapy |
| url | https://turkjpediatr.org/article/view/205 |
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