De Vivo disease

De Vino disease is an autosomal dominant disease associated with a deficiency of GLUT1.

Presentation
Children with this disease presents with refractory seizure disorder, ataxia, and developmental delay with deceleration of head growth and microcephaly.1 The seizure is usually an infantile- onset often begin at 1-4 months of age.2 usually starts as complex seizure and later in childhood becomes more generalized.the frequency of seizure is variable and a history of decreasing seizure frequency during times of ketosis (ex: during an illness) should prompt the diagnosis2 Seizure is usually refractory to anticonvulsants and it might be exacerbated by phenobarbitaone.2 Developmental delay is global and includes receptive and expressive language dysfunction.2 Ataxia, fine motor control problems is also global.2

Diagnosis
CSF glucose value, (<2.2 mmol/L), or lowered CSF/Plasma glucose ratio( <0.4), erythrocyte 3-O-methyl-d-glucose uptake assay.

Treatment
Ketogenic diet helps control the seizure by providing ketones as an alternative fuel to the brain instead of glucose.