Rett syndrome in Thai female girls: clinical studies.

ABSTRACT

Rett syndrome consists of a highly complex but consistent set of clinical signs and symptoms. Clinical characteristics consist of microcephaly, delayed psychomotor development, autistic behavior, stereotyped hand-washing, and seizures. Over a period of 14 years (1987-2000), 7 patients with Rett syndrome were evaluated at the Out Patient Unit, King Chulalongkorn Memorial Hospital, Bangkok, Thailand. All seven patients were females aging 1 1/2 to 5 years old when diagnosis was established. All were appearently normal at birth and had developmental regression after a period of time. All of them developed microcephaly, autistic features, seizures, and stereotyped hand-washing-movement. Five of seven patients (71.42%) developed episodic hyperventilation. All cases had abnormal electroencephalogram. Computer tomography scan were examined in 3 cases which were normal while magnetic resonance imaging were studied in 2 cases and was abnormal in one.