Alternating hemiplegia of childhood with a de novo mutation in ATP1A3 and changes in SLC2A1 responsive to a ketogenic diet.
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.


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.


CONCLUSIONS
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.
Department of Pediatric Neurology, Hospital Sant Joan de Déu, Barcelona, Spain. Electronic address: aulate@hsjdbcn.org.
Adriana
A
Ulate-Campos
Department of Pediatric Neurology, Hospital Sant Joan de Déu and CIBERER-ISCIII, Barcelona, Spain.
Carmen
C
Fons
Department of Clinical Biochemistry, Hospital Sant Joan de Déu and CIBERER, Barcelona, Spain.
Rafael
R
Artuch
Department of Gastroenterology, Hospital Sant Joan de Déu, Barcelona, Spain.
Esperanza
E
Castejón
Department of Molecular Genetics, Hospital Sant Joan de Déu and CIBERER, Barcelona, Spain.
Loreto
L
Martorell
Departments of Genetics, Genomic Sciences and Neurology, Icahn School of Medicine at Mount Sinai, New York, New York.
Laurie
L
Ozelius
Rare Brain Disorders Clinic and Laboratory, UT Southwestern Medical Center, Dallas, Texas.
Juan
J
Pascual
Department of Pediatric Neurology, Hospital Sant Joan de Déu and CIBERER-ISCIII, Barcelona, Spain.
Jaume
J
Campistol
D001921:Brain / Q000000981:diagnostic imaging; D002648:Child; D055423:Diet, Ketogenic; D005260:Female; D051272:Glucose Transporter Type 1 / Q000235:genetics*; D006429:Hemiplegia / Q000000981:diagnostic imaging / Q000178:diet therapy* / Q000235:genetics*; D006801:Humans; D016254:Mutagenesis, Insertional; D009154:Mutation; D049268:Positron-Emission Tomography; D000254:Sodium-Potassium-Exchanging ATPase / Q000235:genetics*
C488756:ATP1A3 protein, human; D051272:Glucose Transporter Type 1; C495677:SLC2A1 protein, human; D000254:Sodium-Potassium-Exchanging ATPase
ATP1A3; GLUT1 DS; GLUT1 deficiency syndrome; SLC2A1; alternating hemiplegia of childhood; ketogenic diet