RETT-SYNDROME IN SAUDI-ARABIA - REPORT OF 6 PATIENTS

Six girls (five Saudis and one Sudanese) aged between 3.5 and 12 years demonstrated the classic features of Rett syndrome (RS), including de velopmental regression with dementia, loss of acquired speech and hand function, and stereotypic hand movements. Myoclonic seizures were obs erved in two of them. Electroencephalography showed diffuse slowing in three cases, generalized epileptic discharges in one, and normal find ings in two. Cranial computed tomography revealed normal findings, exc ept in the 12-year-old girl who had mild bilateral frontal lobe atroph y. Except for mildly elevated blood ammonia in three patients, associa ted with slightly elevated blood lactate in two of them, results of ne urometabolic screening tests were normal. There are, as yet, no labora tory markers pathognomonic for RS. Hence, adherence to current diagnos tic criteria is essential. To prevent unnecessary and costly investiga tions, especially in developing countries, wider knowledge of the clin ical features of the syndrome is warranted.