RETT SYNDROME

Rett syndrome, a neurodegenerative disorder, occurs almost exclusively in female children and has an incidence of 1/15.000. Development proceeds normally until 1 year of age when regression of language and motor milestones and acquired microcephaly become apparent. An ataxic gait or fine tremor of hand movements is an early neurologic finding. Most children develop peculiar sighing respirations with intermittent periods of apnea that may be associated with cyanosis. The hallmark of Rett syndrome is repetitive hand-wringing movements and a loss of purposeful and spontaneous use of the hands which may not appear until 2-3 years of age. Autistic behavior is a typical findings in all patients. Generalized tonic-clonic convulsions occur in the majority and are usually well controlled by anticonvulsivants. Feeding disorders and poor weight gain are common. Several studies have shown elevated CSF levels of endorphins in Rett syndrome. Trials of opiate receptorblocking agents (e.g., naltrexone) have improved the apnea and behavior abnormalities in some patients. After the initial period of neurologic regression, the disease process appears to plateau, with a persistence of the autistic behavior