Widened clinical spectrum of the Q128P MECP2 mutation in Rett syndrome
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We describe a female patient with Arnold Chiari type I malformation, atypical Rett syndrome characterized by postnatal onset microcephaly, stereotypic hand movements, ataxia, severe developmental delay, intractable tonic–clonic seizures, and a MECP2 mutation with a unique set of clinical findings. Implementation of a ketogenic diet resulted in decreased seizure activity and an improvement in the patient’s degree of social relatedness with her family members.
An early diagnosis of Rett syndrome allows families to maximize utilization of existing treatment modalities and seek appropriate genetic counseling and prenatal diagnoses. This case also provides further evidence for the treatment benefit of ketogenic diets for seizures in patients with Rett syndrome.
KeywordsRett syndrome Type 1 Chiari malformation MECP2 Ketogenic diet
The authors thank Marshfield Clinic Research Foundation for its support through the assistance of Jennifer Hayes, Linda Weis, and Alice Stargardt in the preparation of this manuscript.
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