A Rare Variant of Rett Syndrome: Zappella Variant

Introduction: Rett syndrome is a neurodevelopment syndrome of females which has a brief initial normal development followed by regression of milestones in form of loss of speech and purposeful hand use and gait abnormalities due to MECP2 gene mutation. Zappella variant is the variant in which speech is preserved of the patient.

Case Report: A 21-year-old female with full-term birth by caesarean section who cried immediately with delayed language milestones with bedwetting till age of 13 years and presented with seizure since 3 years of age with frequency of 15 to 20 episodes/day with semiology of head drops and atonic attacks. She had delayed language development with mental age of <10 years with impaired attention process, impaired verbal learning and memory, and impaired spatial functioning. She had delayed speech development. Her genetic testing was positive for MECP2 Video EEG showed T2-T4 localization. MRI brain was normal and SPECT localized to bilateral mesial frontal and MEG showed left occipital, right temporal, and left posterior temporal localization. Because of the frequent drop attacks and bilateral localization, patient underwent VNS after which her drop attacks had reduced.

Discussion: The preserved speech variant is the milder form of Rett syndrome have preserved function speech function and most of them can speak in sentences. These patients also have MECP2 mutation which can be missense mutation or late truncating mutation and can present as low-, intermediate-, and high-functioning with symptoms of mild neurovegetative abnormalities, autistic behavior, and epilepsy.

No conflict of interest has been declared by the author(s).

Publication History

Article published online:
12 September 2024