Abstract
Glucose transporter type 1 (glut1) deficiency syndrome presents with developmental
delay, microcephaly, and recurrent seizures during infancy, as well as cerebrospinal
fluid (CSF) hypoglycorrhachia and mutations in the SLC2A1 gene. We describe a baby with microcephaly, global developmental delay, seizures
from 3 months of age, and CSF glucose in the lower limit of normal range, with heterozygous
p.Glu815Lys mutation of the ATP1A3 gene and no mutation in the SLC2A1 gene. Mutations in ATP1A3 gene are associated with alternating hemiplegia of childhood (AHC). Interestingly
the baby developed episodes of recurrent bouts of alternating hemiplegia from 13 months
of age. The case is reported to highlight ATP1A3 mutation as a probable etiology for glut1 deficiency like syndrome and AHC. A brief
review of literature emphasizing the overlapping paroxysmal and nonparoxysmal symptoms
of the two conditions is also included.
Keywords
Glut1 deficiency syndrome - alternating hemiplegia of childhood -
ATP1A3 mutation -
SLC2A1 mutation - CSF hypoglycorrhachia
