A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: report of 35 cases.
Thirty-five patients, exclusively girls, from three countries had a uniform and striking progressive encephalopathy. After normal general and psychomotor development up to the age of 7 to 18 months, developmental stagnation occurred, followed by rapid deterioration of higher brain functions. Within one-and-a-half years this deterioration led to severe dementia, autism, loss of purposeful use of the hands, jerky truncal ataxia, and acquired microcephaly. The destructive stage was followed by apparent stability lasting through decades. Additional insidious neurological abnormalities supervened, mainly spastic parapareses, vasomotor disturbances of the lower limbs, and epilepsy. Prior extensive laboratory investigations have not revealed the cause. The condition is similar to a virtually overlooked syndrome described by Rett in the German literature. The exclusive involvement of females, correlated with findings in family data analyses, suggests a dominant mutation on one X chromosome that results in affected girls and nonviable male hemizygous conceptuses.
D000293:Adolescent; D000328:Adult; D000641:Ammonia / Q000097:blood; D001072:Apraxias / Q000175:diagnosis; D001259:Ataxia / Q000175:diagnosis*; D001321:Autistic Disorder / Q000175:diagnosis*; D002648:Child; D002657:Child Development; D002675:Child, Preschool; D003704:Dementia / Q000175:diagnosis*; D004569:Electroencephalography; D004827:Epilepsy / Q000175:diagnosis; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D008831:Microcephaly / Q000175:diagnosis; D009048:Motor Skills; D009128:Muscle Spasticity / Q000175:diagnosis; D010243:Paralysis / Q000175:diagnosis; D011596:Psychomotor Disorders / Q000175:diagnosis*; D013239:Stereotyped Behavior; D013577:Syndrome
D000641:Ammonia