De Vivo disease

De Vivo disease is an autosomal dominant developmental disorder associated with a deficiency of GLUT1 also know as Glucose transporter type 1 deficiency syndrome (Glut1-DS)



Presentation
De Vivo disease is characterized by deceleration of head growth also know as microcephaly, mental and motor developmental delays, infantile seizures refractory to anticonvulsants, ataxia, dystonia, dysarthria, opsoclonus, spasticity, and other paroxysmal neurologic phenomena. Mothers of infants with this disorder usually have uneventful pregnancies and deliveries, with the child appearing normal and with in typical birth weight and length ranges. Typically, seizures start between one and four months in 90% of cases with abnormal eye movements and apneic episodes preceding the onset of seizures in some cases. Seizures usually are complex to begin with and later become more generalized. Seizure frequency is variable and a history of decreasing frequency during times of ketosis may prompt a diagnosis. Developmental delays are often global and include receptive and expressive language dysfunction.

Diagnosis and Treatment
De Vivo is diagnosed with CSF glucose value, (<2.2 mmol/L), or lowered CSF/plasma glucose ratio (<0.4), erythrocyte 3-O-methyl-d-glucose uptake assay. Once diagnosed, a Ketogenic diet is usually recommended as it helps to control seizures by providing ketones as an alternative fuel source for the brain other than glucose.

Seeing that the ketogenic diet was discovered as a way to reduce seizures long before 1991 when De Vivo was first diagnosed, it is speculated that some of the ketogentic diet's success was due to the fact that the children who experienced success on the diet actually had De Vivo at a time when the disease was not yet understood.