Rett Syndrome.

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Chahil G, Bollu PC

Rett Syndrome.

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Abstract

Rett syndrome (RTT) is a neurodevelopmental disorder in which regression of previously acquired skills follows a period of typical development. RTT can present with a multitude of symptoms including but not limited to a deceleration in head growth, gait abnormalities, loss of purposeful hand movements often replaced with repetitive stereotypical movement (hand-wringing), loss of speech and breathing abnormalities. RTT is associated with a complex phenotype and has been classified into typical, atypical, and variant presentations. Approximately 90% of reported cases of RTT inherit mutations of the methyl-CpG-binding protein 2 (MECP2) gene. Some atypical cases of RTT may result from mutations in cyclin-dependent kinase-like 5 (CDKL5). Mutations in MECP2 have been associated with impacting the development of neurons and axodendritic connections. Jellinger and Seitelberger (1986) were the first neuropathologists to identify and describe the pathology behind RTT. They found that the brain in patients of RTT weighed less, and the neurons of the substantia nigra pars compacta contained less melanin in comparison to the age-matched controls. Although RTT was thought to be exclusive to females, males with the phenotype and MECP2 mutations are now being defined.

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