Febrile convulsions, ataxia, developmental delay, and obesity: A new syndrome?

We describe the association of recurrent complicated febrile convulsions, d evelopmental delay, ataxia, and obesity in three unrelated girls. The three girls, aged 3 to 4 years, were all born to healthy, nonconsanguineous pare nts and have normal siblings. Their birth weight was appropriate for gestat ional age. They are not dysmorphic and have normal head circumference. Deve lopment 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 a like: they initially had a normal growth curve and around 24 months of age started to gain weight excessively. They all continue to suffer from compli cated febrile seizures, which started before 12 months of age, and are resi stant 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 m ental retardation syndrome that should be considered in children with recur rent febrile convulsions, developmental delay, and obesity. In a recent stu dy, mutations in the beta4 calcium channel were identified in the mutant ep ileptic mouse that presents with epilepsy, mental retardation, and ataxia. We hypothesize that a calcium channel gene may be involved in this syndrome .