Four adult Rett patients at an institution for the handicapped

We report the clinical, laboratory, and magnetic resonance imaging results of 4 adult patients (ages 25, 26, 29, and 35 years) with stage IV Rett syndrome. The patients were diagnosed at an institution for the handicapped. Two of them had been previously diagnosed as having cerebral palsy. All were microcephalic and had seizures, although the frequency of seizures decreased with advancing age. Three patients had scoliosis. Magnetic resonance imaging demonstrated marked craniofacial disproportion in 2 patients, bilateral atrophy of the frontotemporal lobes in 3, and cerebellar atrophy in 1. The cerebrospinal fluid concentrations of biopterin and homovanillic acid did not differ significantly in these Rett syndrome patients from age-matched controls.