Successful treatment of intractable epilepsy with ketogenic diet therapy in twins with ALG3-CDG
| Autor: | Ana Töpf, E. O'Heir, Rita Horvath, Steve Laurie, Uluç Yiş, Sergi Beltran, Yavuz Oktay, Didem Soydemir, Semra Hiz, Pinar Edem, Hanns Lochmüller, Ece Sonmezler, G. Sarikaya Uzan, Cem Paketçi |
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| Přispěvatelé: | Horvath, Rita [0000-0002-9841-170X], Apollo - University of Cambridge Repository |
| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
Male
Intractable epilepsy Drug Resistant Epilepsy congenital hereditary and neonatal diseases and abnormalities Microcephaly Pediatrics medicine.medical_specialty Developmental delay Developmental Disabilities medicine.medical_treatment Twins Mannosyltransferases Article Central Nervous System Neoplasms Craniofacial Abnormalities Hemangioma 03 medical and health sciences Congenital Disorders of Glycosylation 0302 clinical medicine Developmental Neuroscience Exome Sequencing medicine Humans Exome sequencing Heterogeneous group business.industry Infant General Medicine Ketogenic diet medicine.disease ALG3 Pediatrics Perinatology and Child Health Female Neurology (clinical) Diet Ketogenic business 030217 neurology & neurosurgery Lumbosacral joint Intractable seizures |
| Zdroj: | Brain Dev |
| Popis: | Background Congenital disorders of glycosylation (CDG) is a heterogeneous group of congenital metabolic diseases with multisystem clinical involvement. ALG3-CDG is a very rare subtype with only 24 cases reported so far. Case Here, we report two siblings with dysmorphic features, growth retardation, microcephaly, intractable epilepsy, and hemangioma in the frontal, occipital and lumbosacral regions. Results We studied two siblings by whole exome sequencing. A pathogenic variant in ALG3 (NM_005787.6: c.165C > T; p.Gly55=) that had been previously associated with congenital glycolysis defect type 1d was identified. Their intractable seizures were controlled by ketogenic diet. Conclusion Although prominent findings of growth retardation and microcephaly seen in our patients have been extensively reported before, presence of hemangioma is a novel finding that may be used as an indication for ALG3-CDG diagnosis. Our patients are the first reported cases whose intractable seizures were controlled with ketogenic diet. This report adds ketogenic diet as an option for treatment of intractable epilepsy in ALG3-CDG. |
| Databáze: | OpenAIRE |
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