We describe the association of recurrent complicated
febrile convulsions, developmental delay,
ataxia, and
obesity in three unrelated girls. The three girls, aged 3 to 4 years, were all born to healthy, nonconsanguineous parents and have normal siblings. Their
birth weight was appropriate for gestational age. They are not dysmorphic and have normal head circumference. Development is delayed; they all walked with an ataxic gait after the age of 2 years and started speaking at 3 years. Their growth charts are remarkably alike: they initially had a normal growth curve and around 24 months of age started to
gain weight excessively. They all continue to suffer from complicated
febrile seizures, which started before 12 months of age, and are resistant to prophylactic
anticonvulsants. Metabolic evaluation is normal. They have normal magnetic resonance images and electroencephalograms. Fragile X and Prader-Willi syndromes were ruled out. We suggest that this is a new
mental retardation syndrome that should be considered in children with recurrent
febrile convulsions, developmental delay, and
obesity. In a recent study, mutations in the beta4
calcium channel were identified in the mutant epileptic mouse that presents with
epilepsy,
mental retardation, and
ataxia. We hypothesize that a
calcium channel gene may be involved in this syndrome.