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| De Vivo disease ： ウィキペディア英語版 |
De Vivo disease
De Vivo disease is an autosomal dominant developmental disorder associated with a deficiency of GLUT1 also known as Glucose transporter type 1 deficiency syndrome (GLUT1-DS)
==Presentation==
De Vivo disease is characterized by deceleration of head growth also known 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 within typical birth weight and length ranges. Infants with GLUT1 deficiency syndrome have a normal head size at birth, but the growth of the brain and skull is slow, in severe cases resulting in an abnormally small head size. 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.
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