title: Febrile convulsions, ataxia, developmental delay, and obesity: a new syndrome?
abstract: 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.
authors: Institute of Medical Genetics, and Metabolc Neurogenetic Clinic, Wolfson Medical Center, Holon, Israel.
authors: D
authors: D
authors: Lev
authors: N
authors: N
authors: Watemberg
authors: A
authors: A
authors: Aviram
authors: J
authors: J
authors: Fishoff
authors: E
authors: E
authors: Antman
authors: T
authors: T
authors: Lerman-Sagie
mesh_terms: D002675:Child, Preschool; D002658:Developmental Disabilities / Q000175:diagnosis*; D003937:Diagnosis, Differential; D005260:Female; D005500:Follow-Up Studies; D020234:Gait Ataxia / Q000175:diagnosis*; D006801:Humans; D009765:Obesity / Q000175:diagnosis*; D003294:Seizures, Febrile / Q000175:diagnosis*; D013577:Syndrome