[GLUT-1 deficiency syndrome or De Vivo disease: a case report].
GLUT-1 protein is the principal glucose transporter across the blood-brain barrier. GLUT-1 deficiency results in a syndrome of infantile seizures refractory to anticonvulsive drugs, developmental delay, acquired microcephaly and neurologic manifestations including spasticity, hypotonia, and ataxia. A low cerebrospinal fluid glucose concentration in the absence of hypoglycaemia is pathognomonic of glucose transporter deficiency syndrome. Ketogenic diet is an effective treatment of epileptic manifestations but it has less effect on the cognitive symptoms. We report on a child who presented with paroxistical events often occurring prior to meals, developmental delay, microcephaly and spasticity. CSF and serum glucose levels measured simultaneously showed a CSF/serum glucose ratio of 0.39. Molecular analysis identified a heterozygous novel mutation.
Ticus
I
I
Service de pédiatrie et neurologie pédiatrique, hôpital d'Enfants, CHU La Timone, 264 rue Saint-Pierre, Marseille cedex 5, France.
Cano
A
A
Villeneuve
N
N
Milh
M
M
Mancini
J
J
Chabrol
B
B
D001259:Ataxia / Q000150:complications; D001786:Blood Glucose / Q000032:analysis; D001812:Blood-Brain Barrier; D002239:Carbohydrate Metabolism, Inborn Errors / Q000175:diagnosis / Q000178:diet therapy / Q000235:genetics; D004827:Epilepsy / Q000150:complications / Q000209:etiology; D005947:Glucose / Q000134:cerebrospinal fluid; D051272:Glucose Transporter Type 1 / Q000172:deficiency*; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008297:Male; D008831:Microcephaly / Q000150:complications; D009123:Muscle Hypotonia / Q000150:complications; D009154:Mutation; D013577:Syndrome
D001786:Blood Glucose; D051272:Glucose Transporter Type 1; D005947:Glucose