De Vivo disease

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De Vivo disease Classification and external resources
OMIM	606777

De Vivo disease is an autosomal dominant developmental disorder associated with a deficiency of GLUT1.

De Vivo disease has an autosomal dominant pattern of inheritance.

1 Presentation
2 Diagnosis
3 Treatment
4 References

[edit] Presentation

Children with this disease present with refractory seizure disorder, ataxia, and developmental delay with deceleration of head growth and microcephaly. The seizures are infantile, onset often beginning at 1-4 months of age, usually as complex seizures and later in childhood becoming more generalized. The frequency of seizures is variable and a history of decreasing seizure frequency during times of ketosis (ex: during an illness) may prompt the diagnosis.

Developmental delay is global and includes receptive and expressive language dysfunction.

[edit] Diagnosis

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

[edit] Treatment

Ketogenic diet helps control the seizure by providing ketones as an alternative fuel to the brain instead of glucose.^[1]

[edit] References

^ De Vivo DC, Trifiletti RR, Jacobson RI, Ronen GM, Behmand RA, Harik SI (1991). "Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay". N. Engl. J. Med. 325 (10): 703–709. PMID 1714544.