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Autonomic Dysfunction in Mental Retardation and Spastic Paraparesis With MECP2 Mutation

Departments of Neurological and Behavioural Sciences, University of Siena, Siena, Italy, dotti{at}unisi.it

Francesca Guideri, MD

Department of Internal Medicine, University of Siena, Siena, Italy

Maurizio Acampa, MD

Department of Internal Medicine, University of Siena, Siena, Italy

Alfredo Orrico, MD

Department of Molecular Medicine University of Siena, Siena, Italy

Carla Battisti, MD

Departments of Neurological and Behavioural Sciences, University of Siena, Siena, Italy

Antonio Federico, MD

Departments of Neurological and Behavioural Sciences, University of Siena, Siena, Italy

Autonomic nervous system involvement in female patients with classic Rett syndrome usually manifests as breathing abnormalities, peripheral vasomotor disturbances, and cardiac sympathetic imbalance, the latter a possible cause of sudden death. MECP2 gene mutations responsible for Rett syndrome have also been found in male patients with mental retardation, sometimes associated with different neurologic abnormalities. However, autonomic nervous system functions have never been investigated in male patients with X-linked mental retardation owing to MECP2 mutations. We studied heart rate variability, a marker of autonomic activity, in a family with the MECP2 mutation in male patients, one of whom had died suddenly. Cardiovascular features similar to those observed in a Rett syndrome variant with preserved speech were found, suggesting sympathetic imbalance. (J Child Neurol 2004; 19:964-966).

Journal of Child Neurology, Vol. 19, No. 12, 964-966 (2004)
DOI: 10.1177/08830738040190121001


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