Adriana Ulate-Campos1, Carmen Fons2, Rafael Artuch3, Esperanza Castejón4, Loreto Martorell5, Laurie Ozelius6, Juan Pascual7, Jaume Campistol2. 1. Department of Pediatric Neurology, Hospital Sant Joan de Déu, Barcelona, Spain. Electronic address: aulate@hsjdbcn.org. 2. Department of Pediatric Neurology, Hospital Sant Joan de Déu and CIBERER-ISCIII, Barcelona, Spain. 3. Department of Clinical Biochemistry, Hospital Sant Joan de Déu and CIBERER, Barcelona, Spain. 4. Department of Gastroenterology, Hospital Sant Joan de Déu, Barcelona, Spain. 5. Department of Molecular Genetics, Hospital Sant Joan de Déu and CIBERER, Barcelona, Spain. 6. Departments of Genetics, Genomic Sciences and Neurology, Icahn School of Medicine at Mount Sinai, New York, New York. 7. Rare Brain Disorders Clinic and Laboratory, UT Southwestern Medical Center, Dallas, Texas.
Abstract
BACKGROUND: Alternating hemiplegia of childhood (AHC) is a rare condition characterized by an early onset of hemiplegic episodes and other paroxysmal or permanent neurological dysfunctions. Recently, mutations in the ATP1A3 gene have been identified as the causal mechanism of AHC. Regarding the differential diagnosis of AHC, glucose transporter 1 deficiency syndrome may be considered because these two disorders share some paroxystic and nonparoxystic features. PATIENT AND RESULTS: We report a typical case of AHC harboring a de novo mutation in the ATP1A3 gene, together with a duplication and insertion in the SLC2A1 gene who exhibited marked clinical improvement following ketogenic diet. CONCLUSION: Because the contribution of the SLC2A1 mutation to the clinical phenotype cannot be definitely demonstrated, the remarkable clinical response after ketogenic diet led us to the hypothesis that ketogenic diet might be effective in AHC as it provides an alternative energy source for the brain.
BACKGROUND: Alternating hemiplegia of childhood (AHC) is a rare condition characterized by an early onset of hemiplegic episodes and other paroxysmal or permanent neurological dysfunctions. Recently, mutations in the ATP1A3 gene have been identified as the causal mechanism of AHC. Regarding the differential diagnosis of AHC, glucose transporter 1 deficiency syndrome may be considered because these two disorders share some paroxystic and nonparoxystic features. PATIENT AND RESULTS: We report a typical case of AHC harboring a de novo mutation in the ATP1A3 gene, together with a duplication and insertion in the SLC2A1 gene who exhibited marked clinical improvement following ketogenic diet. CONCLUSION: Because the contribution of the SLC2A1 mutation to the clinical phenotype cannot be definitely demonstrated, the remarkable clinical response after ketogenic diet led us to the hypothesis that ketogenic diet might be effective in AHC as it provides an alternative energy source for the brain.
Authors: Paula F Kinoshita; Jacqueline A Leite; Ana Maria M Orellana; Andrea R Vasconcelos; Luis E M Quintas; Elisa M Kawamoto; Cristoforo Scavone Journal: Front Physiol Date: 2016-06-02 Impact factor: 4.566