Rett syndrome

ABSTRACT

A 9 year old girl presented with gradual regression of both motor and language skills. She was a full term normal baby and early developmental milestones were normal. She gradually developed spastic paraparesis with loss of speech appearance of stereotype wringing movements of both hands generalized tonic clonic and myoclonic seizures. There was no family history of any neurological or metabolic disorder. All investigations including a CT. brain, CSF examination, urinary protein and amino acids screening, serology for toxoplasmosis cytomegalovirus and herpes simplex and chromosomal analysis was normal. EEG revealed slight slowing of background activity in posterior leads. Overall clinical picture was consistent with Rett syndrome. We describe the clinical presentation course and results of the investigations in this case report