Five girls aged 4 to 13 years presented with clinical features of classical Rett syndrome - loss of acquired developmental skills including speech and hand function, progressive microcephaly and characteristic stereotyped “hand washing” movements. Two patients had generalized tonic, clonic seizures and one had atonic seizures with electroencephalogram (EEG) evidence of Lannox Gastaut syndrome. Cranial CT was normal in all except two patients, which showed marked perisylvian atrophy, and metabolic screening revealed non specific mild hyperammoniaemia in three. The aim of the study is to illustrate the unique clinical features of Rett syndrome and reiterate the importance of the diagnosis of this rare condition, clinically.

Five girls aged 4 to 13 years presented with clinical features of classical Rett syndrome - loss of acquired developmental skills including speech and hand function, progressive microcephaly and characteristic stereotyped “hand washing” movements. Two patients had generalized tonic, clonic seizu...