Oral findings in a patient with Alexander disease: A case report

Abstract

Alexander disease (AxD) is a rare neurodegenerative disorder caused by mutation of the glial fibrillary acidic protein gene. AxD is characterized by severe motor impairment, intellectual disability, epilepsy, megalencephaly, and seizures. Although palatal tremor and palatal myoclonus have been reported, no other oral findings in AxD patients have been described. Here, we report oral findings from house call dentistry for a 14-year 3-month-old child with AxD. Intraoral findings included gingival hyperplasia, partially impacted teeth, delayed eruption, enamel hypoplasia, macroglossia, anterior open bite, and low tongue posture. This is the first report of oral findings for an AxD patient.